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Marilyn Jo Telen

Wellcome Clinical Distinguished Professor of Medicine in Honor of R. Wayne Rundles, M.D.
Medicine, Hematology
Duke Box 2615, Durham, NC 27710
333 Med Sci Res Bldg, Durham, NC

Selected Publications


Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.

Journal Article Nat Commun · May 24, 2024 Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted a multi-ancestry ... Full text Link to item Cite

Riociguat in patients with sickle cell disease and hypertension or proteinuria (STERIO-SCD): a randomised, double-blind, placebo controlled, phase 1-2 trial.

Journal Article Lancet Haematol · May 2024 BACKGROUND: Although nitric oxide based therapeutics have been shown in preclinical models to reduce vaso-occlusive events and improve cardiovascular function, a clinical trial of a phosphodiesterase 5 inhibitor increased rates of admission to hospital for ... Full text Link to item Cite

Multicenter, phase 1 study of etavopivat (FT-4202) treatment for up to 12 weeks in patients with sickle cell disease.

Journal Article Blood Adv · April 19, 2024 Etavopivat is an investigational, once-daily, oral, selective erythrocyte pyruvate kinase (PKR) activator. A multicenter, randomized, placebo-controlled, double-blind, 3-part, phase 1 study (https://clinicaltrials.gov/study/NCT03815695) was conducted to ch ... Full text Link to item Cite

Functions of blood group antigens

Chapter · March 8, 2024 This chapter reviews current knowledge about erythrocyte membrane proteins expressing blood group antigens. Known functions and physiologic roles are also reviewed. Primary attention is paid to two of the most highly expressed and interesting of these prot ... Full text Cite

Nontargeted Plasma Proteomic Analysis of Renal Disease and Pulmonary Hypertension in Patients with Sickle Cell Disease.

Journal Article J Proteome Res · March 1, 2024 Sickle cell disease (SCD) is characterized by red blood cell sickling, vaso-occlusion, hemolytic anemia, damage to multiple organ systems, and, as a result, shortened life expectancy. Sickle cell disease nephropathy (SCDN) and pulmonary hypertension (pHTN) ... Full text Link to item Cite

Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis.

Journal Article Blood · January 25, 2024 Cell-surface exposure of phosphatidylserine (PS) is essential for phagocytic clearance and blood clotting. Although a calcium-activated phospholipid scramblase (CaPLSase) has long been proposed to mediate PS exposure in red blood cells (RBCs), its identity ... Full text Link to item Cite

Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results.

Journal Article iScience · December 15, 2023 Metabolite genome-wide association studies (mGWAS) have advanced our understanding of the genetic control of metabolite levels. However, interpreting these associations remains challenging due to a lack of tools to annotate gene-metabolite pairs beyond the ... Full text Link to item Cite

Preferences for potential benefits and risks for gene therapy in the treatment of sickle cell disease.

Journal Article Blood Adv · December 12, 2023 Objective of this study is to quantify benefit-risk tradeoffs pertaining to potential gene therapies among adults and parents/caregivers of children with sickle cell disease (SCD). A discrete-choice experiment survey was developed in which respondents sele ... Full text Link to item Cite

PIEZO1-TMEM16F Interplay in Hereditary Xerocytosis

Conference Blood · November 2, 2023 Cell surface exposure of phosphatidylserine (PS), an anionic phospholipid that is usually confined to the inner leaflet of the plasma membrane, triggers a plethora of cellular responses. PS exposure in RBCs contributes ... Full text Cite

Biologic Assessment of RBC Biology and Neutrophil Activation: Correlation with Sickle Cell Disease Activity

Conference Blood · November 2, 2023 Sickle cell disease (SCD) has pleiomorphic effects on affected individuals, most typically including both hemolysis and vaso-occlusive events (VOE). However, previous reports have suggested that these two paradigmatic p ... Full text Cite

Differences in the Circulating Proteome in Individuals with versus without Sickle Cell Trait.

Journal Article Clin J Am Soc Nephrol · November 1, 2023 BACKGROUND: Sickle cell trait affects approximately 8% of Black individuals in the United States, along with many other individuals with ancestry from malaria-endemic regions worldwide. While traditionally considered a benign condition, recent evidence sug ... Full text Link to item Cite

OA4-AM23-MN-36

Journal Article Transfusion · October 1, 2023 Full text Cite

Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy.

Journal Article Blood Adv · September 12, 2023 Sickle cell disease nephropathy (SCDN), a common SCD complication, is strongly associated with mortality. Polygenic risk scores calculated from recent transethnic meta-analyses of urinary albumin-to-creatinine ratio and estimated glomerular filtration rate ... Full text Link to item Cite

Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma.

Journal Article EBioMedicine · September 2023 BACKGROUND: Identifying novel epigenetic signatures associated with serum immunoglobulin E (IgE) may improve our understanding of molecular mechanisms underlying asthma and IgE-mediated diseases. METHODS: We performed an epigenome-wide association study us ... Full text Link to item Cite

WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.

Journal Article medRxiv · August 22, 2023 Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-geno ... Full text Link to item Cite

Management of Older Adults with Sickle Cell Disease: Considerations for Current and Emerging Therapies.

Journal Article Drugs Aging · April 2023 People with sickle cell disease (SCD) are living longer than ever before, with the median survival increasing from age 14 years in 1973, beyond age 40 years in the 1990s, and as high as 61 years in recent cohorts from academic centers. Improvements in surv ... Full text Link to item Cite

Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.

Journal Article Nat Commun · May 24, 2024 Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted a multi-ancestry ... Full text Link to item Cite

Riociguat in patients with sickle cell disease and hypertension or proteinuria (STERIO-SCD): a randomised, double-blind, placebo controlled, phase 1-2 trial.

Journal Article Lancet Haematol · May 2024 BACKGROUND: Although nitric oxide based therapeutics have been shown in preclinical models to reduce vaso-occlusive events and improve cardiovascular function, a clinical trial of a phosphodiesterase 5 inhibitor increased rates of admission to hospital for ... Full text Link to item Cite

Multicenter, phase 1 study of etavopivat (FT-4202) treatment for up to 12 weeks in patients with sickle cell disease.

Journal Article Blood Adv · April 19, 2024 Etavopivat is an investigational, once-daily, oral, selective erythrocyte pyruvate kinase (PKR) activator. A multicenter, randomized, placebo-controlled, double-blind, 3-part, phase 1 study (https://clinicaltrials.gov/study/NCT03815695) was conducted to ch ... Full text Link to item Cite

Functions of blood group antigens

Chapter · March 8, 2024 This chapter reviews current knowledge about erythrocyte membrane proteins expressing blood group antigens. Known functions and physiologic roles are also reviewed. Primary attention is paid to two of the most highly expressed and interesting of these prot ... Full text Cite

Nontargeted Plasma Proteomic Analysis of Renal Disease and Pulmonary Hypertension in Patients with Sickle Cell Disease.

Journal Article J Proteome Res · March 1, 2024 Sickle cell disease (SCD) is characterized by red blood cell sickling, vaso-occlusion, hemolytic anemia, damage to multiple organ systems, and, as a result, shortened life expectancy. Sickle cell disease nephropathy (SCDN) and pulmonary hypertension (pHTN) ... Full text Link to item Cite

Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis.

Journal Article Blood · January 25, 2024 Cell-surface exposure of phosphatidylserine (PS) is essential for phagocytic clearance and blood clotting. Although a calcium-activated phospholipid scramblase (CaPLSase) has long been proposed to mediate PS exposure in red blood cells (RBCs), its identity ... Full text Link to item Cite

Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results.

Journal Article iScience · December 15, 2023 Metabolite genome-wide association studies (mGWAS) have advanced our understanding of the genetic control of metabolite levels. However, interpreting these associations remains challenging due to a lack of tools to annotate gene-metabolite pairs beyond the ... Full text Link to item Cite

Preferences for potential benefits and risks for gene therapy in the treatment of sickle cell disease.

Journal Article Blood Adv · December 12, 2023 Objective of this study is to quantify benefit-risk tradeoffs pertaining to potential gene therapies among adults and parents/caregivers of children with sickle cell disease (SCD). A discrete-choice experiment survey was developed in which respondents sele ... Full text Link to item Cite

PIEZO1-TMEM16F Interplay in Hereditary Xerocytosis

Conference Blood · November 2, 2023 Cell surface exposure of phosphatidylserine (PS), an anionic phospholipid that is usually confined to the inner leaflet of the plasma membrane, triggers a plethora of cellular responses. PS exposure in RBCs contributes ... Full text Cite

Biologic Assessment of RBC Biology and Neutrophil Activation: Correlation with Sickle Cell Disease Activity

Conference Blood · November 2, 2023 Sickle cell disease (SCD) has pleiomorphic effects on affected individuals, most typically including both hemolysis and vaso-occlusive events (VOE). However, previous reports have suggested that these two paradigmatic p ... Full text Cite

Differences in the Circulating Proteome in Individuals with versus without Sickle Cell Trait.

Journal Article Clin J Am Soc Nephrol · November 1, 2023 BACKGROUND: Sickle cell trait affects approximately 8% of Black individuals in the United States, along with many other individuals with ancestry from malaria-endemic regions worldwide. While traditionally considered a benign condition, recent evidence sug ... Full text Link to item Cite

OA4-AM23-MN-36

Journal Article Transfusion · October 1, 2023 Full text Cite

Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy.

Journal Article Blood Adv · September 12, 2023 Sickle cell disease nephropathy (SCDN), a common SCD complication, is strongly associated with mortality. Polygenic risk scores calculated from recent transethnic meta-analyses of urinary albumin-to-creatinine ratio and estimated glomerular filtration rate ... Full text Link to item Cite

Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma.

Journal Article EBioMedicine · September 2023 BACKGROUND: Identifying novel epigenetic signatures associated with serum immunoglobulin E (IgE) may improve our understanding of molecular mechanisms underlying asthma and IgE-mediated diseases. METHODS: We performed an epigenome-wide association study us ... Full text Link to item Cite

WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.

Journal Article medRxiv · August 22, 2023 Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-geno ... Full text Link to item Cite

Management of Older Adults with Sickle Cell Disease: Considerations for Current and Emerging Therapies.

Journal Article Drugs Aging · April 2023 People with sickle cell disease (SCD) are living longer than ever before, with the median survival increasing from age 14 years in 1973, beyond age 40 years in the 1990s, and as high as 61 years in recent cohorts from academic centers. Improvements in surv ... Full text Link to item Cite

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.

Journal Article Nature · April 2023 Mutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells (HSCs), leading to clonal haematopoiesis1. These lesions are precursors for blood cancers2-6, but the basis of their fitness advantage remains largely unknown, par ... Full text Link to item Cite

Clonal haematopoiesis and risk of chronic liver disease.

Journal Article Nature · April 2023 Chronic liver disease is a major public health burden worldwide1. Although different aetiologies and mechanisms of liver injury exist, progression of chronic liver disease follows a common pathway of liver inflammation, injury and fibrosis2. Here we examin ... Full text Link to item Cite

Genetic regulation of fetal hemoglobin across global populations.

Journal Article medRxiv · March 28, 2023 Human genetic variation has enabled the identification of several key regulators of fetal-to-adult hemoglobin switching, including BCL11A, resulting in therapeutic advances. However, despite the progress made, limited further insights have been obtained to ... Full text Link to item Cite

Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results.

Journal Article bioRxiv · March 24, 2023 Studies combining metabolomics and genetics, known as metabolite genome-wide association studies (mGWAS), have provided valuable insights into our understanding of the genetic control of metabolite levels. However, the biological interpretation of these as ... Full text Link to item Cite

Variation and impact of polygenic hematologic traits in monogenic sickle cell disease.

Journal Article Haematologica · March 1, 2023 Several of the complications observed in sickle cell disease (SCD) are influenced by variation in hematologic traits (HT), such as fetal hemoglobin (HbF) level and neutrophil count. Previous large-scale genome-wide association studies carried out in largel ... Full text Link to item Cite

Structural variation across 138,134 samples in the TOPMed consortium.

Journal Article Res Sq · February 3, 2023 Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence data is non-trivial and requires a bala ... Full text Link to item Cite

Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing.

Journal Article Nat Genet · February 2023 Most transcriptome-wide association studies (TWASs) so far focus on European ancestry and lack diversity. To overcome this limitation, we aggregated genome-wide association study (GWAS) summary statistics, whole-genome sequences and expression quantitative ... Full text Link to item Cite

Structural variation across 138,134 samples in the TOPMed consortium.

Journal Article bioRxiv · January 25, 2023 Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence data is non-trivial and requires a bala ... Full text Link to item Cite

A randomized clinical trial of the efficacy and safety of rivipansel for sickle cell vaso-occlusive crisis.

Journal Article Blood · January 12, 2023 The efficacy and safety of rivipansel, a predominantly E-selectin antagonist, were studied in a phase 3, randomized, controlled trial for vaso-occlusive crisis (VOC) requiring hospitalization (RESET). A total of 345 subjects (204 adults and 141 children) w ... Full text Link to item Cite

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.

Journal Article Nat Genet · January 2023 Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies provides an attractive solution to the problem of collecting large sample sizes for discovering rare variants associated with complex phenotypes. Existing rare variant meta-a ... Full text Open Access Link to item Cite

Genetic Modifiers of Sickle Cell Disease.

Journal Article Hematol Oncol Clin North Am · December 2022 Sickle cell disease (SCD) is characterized by tremendous phenotypic heterogeneity across patients, but this clinical variability is poorly understood, thus motivating the search for genetic modifiers. The early identification of genetic variants that contr ... Full text Link to item Cite

Genetic diversity fuels gene discovery for tobacco and alcohol use.

Journal Article Nature · December 2022 Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury1-4. These substances are used across the globe, yet genome-wide association studies ... Full text Open Access Link to item Cite

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.

Journal Article Nat Methods · December 2022 Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-variant (RV) associations with complex human diseases and traits. Variant-set analysis is a powerful approach to study RV association. However, existing methods have limite ... Full text Open Access Link to item Cite

Rare genetic variants explain missing heritability in smoking.

Journal Article Nat Hum Behav · November 2022 Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this 'missing heritability'. We investigated the contribution of rare genetic variants to tobacco use with ... Full text Link to item Cite

Design, Synthesis, and Investigation of Novel Nitric Oxide (NO)-Releasing Aromatic Aldehydes as Drug Candidates for the Treatment of Sickle Cell Disease.

Journal Article Molecules · October 12, 2022 Sickle cell disease (SCD) is caused by a single-point mutation, and the ensuing deoxygenation-induced polymerization of sickle hemoglobin (HbS), and reduction in bioavailability of vascular nitric oxide (NO), contribute to the pathogenesis of the disease. ... Full text Link to item Cite

Whole genome sequence analysis of blood lipid levels in >66,000 individuals.

Journal Article Nat Commun · October 11, 2022 Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery of lipid-associated alleles using whole genome sequencing (WGS), partly ... Full text Open Access Link to item Cite

Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.

Journal Article Nat Commun · August 22, 2022 Integrating genetic information with metabolomics has provided new insights into genes affecting human metabolism. However, gene-metabolite integration has been primarily studied in individuals of European Ancestry, limiting the opportunity to leverage gen ... Full text Link to item Cite

Longitudinal study of glomerular hyperfiltration in adults with sickle cell anemia: a multicenter pooled analysis.

Journal Article Blood Adv · August 9, 2022 Glomerular hyperfiltration is common in young sickle cell anemia patients and precedes development of overt kidney disease. In this multicenter pooled cohort, we characterized hyperfiltration and its decline to normal range in adult patients. Glomerular fi ... Full text Link to item Cite

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.

Journal Article Nat Genet · March 2022 Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining ... Full text Link to item Cite

Clonal hematopoiesis in sickle cell disease.

Journal Article J Clin Invest · February 15, 2022 BACKGROUNDCurative gene therapies for sickle cell disease (SCD) are currently undergoing clinical evaluation. The occurrence of myeloid malignancies in these trials has prompted safety concerns. Individuals with SCD are predisposed to myeloid malignancies, ... Full text Link to item Cite

Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.

Journal Article Cell Genom · January 12, 2022 Genetic studies on telomere length are important for understanding age-related diseases. Prior GWAS for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally ... Full text Link to item Cite

Etavopivat, an Allosteric Activator of Pyruvate Kinase-R, Improves Sickle RBC Functional Health and Survival and Reduces Systemic Markers of Inflammation and Hypercoagulability in Patients with Sickle Cell Disease: An Analysis of Exploratory Studies in a Phase 1 Study

Conference Blood · November 5, 2021 AbstractThe hallmark of sickle cell disease (SCD) is polymerization of deoxygenated hemoglobin S (HbS), resulting in red blood cell (RBC) sickling, oxidative and membrane damage, hemolysis, vaso-occlusion, a ... Full text Cite

Activation of Pyruvate Kinase-R with Etavopivat (FT-4202) Is Well Tolerated, Improves Anemia, and Decreases Intravascular Hemolysis in Patients with Sickle Cell Disease Treated for up to 12 Weeks

Conference Blood · November 5, 2021 AbstractEtavopivat is a small molecule activator of erythrocyte pyruvate kinase (PKR), that increases PKR activity, resulting in decreased 2,3-DPG and increased ATP in red blood cells (RBCs) of healthy volun ... Full text Cite

Identification of optimal thalassemia screening strategies for migrant populations in Thailand using a qualitative approach.

Journal Article BMC Public Health · October 6, 2021 BACKGROUND: Thalassemia is a common inherited hemoglobin disorder in Southeast Asia. Severe thalassemia can lead to significant morbidity for patients and economic strain for under-resourced health systems. Thailand's thalassemia prevention and control pro ... Full text Link to item Cite

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.

Journal Article Nat Genet · October 2021 Fine-mapping to plausible causal variation may be more effective in multi-ancestry cohorts, particularly in the MHC, which has population-specific structure. To enable such studies, we constructed a large (n = 21,546) HLA reference panel spanning five glob ... Full text Link to item Cite

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program.

Journal Article Genome Med · August 26, 2021 BACKGROUND: Sleep-disordered breathing is a common disorder associated with significant morbidity. The genetic architecture of sleep-disordered breathing remains poorly understood. Through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, we p ... Full text Link to item Cite

Feasibility of and barriers to thalassemia screening in migrant populations: a cross-sectional study of Myanmar and Cambodian migrants in Thailand.

Journal Article BMC Public Health · June 21, 2021 BACKGROUND: Thalassemia, an inherited hemoglobin disorder, has become a global public health problem due to population migration. Evidence-based strategies for thalassemia prevention in migrants are lacking. We characterized barriers to thalassemia screeni ... Full text Link to item Cite

Genome sequencing unveils a regulatory landscape of platelet reactivity.

Journal Article Nat Commun · June 15, 2021 Platelet aggregation at the site of atherosclerotic vascular injury is the underlying pathophysiology of myocardial infarction and stroke. To build upon prior GWAS, here we report on 16 loci identified through a whole genome sequencing (WGS) approach in 3, ... Full text Link to item Cite

Variant-specific inflation factors for assessing population stratification at the phenotypic variance level.

Journal Article Nat Commun · June 9, 2021 In modern Whole Genome Sequencing (WGS) epidemiological studies, participant-level data from multiple studies are often pooled and results are obtained from a single analysis. We consider the impact of differential phenotype variances by study, which we te ... Full text Link to item Cite

Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium.

Journal Article Genome Med · April 21, 2021 BACKGROUND: The large airway epithelial barrier provides one of the first lines of defense against respiratory viruses, including SARS-CoV-2 that causes COVID-19. Substantial inter-individual variability in individual disease courses is hypothesized to be ... Full text Link to item Cite

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.

Journal Article Nat Commun · April 12, 2021 Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-cov ... Full text Link to item Cite

Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis.

Journal Article Blood Cells Mol Dis · February 2021 In a recent clinical trial, the metabolite l-glutamine was shown to reduce painful crises in sickle cell disease (SCD) patients. To support this observation and identify other metabolites implicated in SCD clinical heterogeneity, we profiled 129 metabolite ... Full text Link to item Cite

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.

Journal Article Transfusion · February 2021 BACKGROUND: Genetic variants in the SLC14A1, ACKR1, and KEL genes, which encode Kidd, Duffy, and Kell red blood cell antigens, respectively, may result in weakened expression of antigens or a null phenotype. These variants are of particular interest to ind ... Full text Link to item Cite

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.

Journal Article Nature · February 2021 The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The init ... Full text Link to item Cite

Clonal hematopoiesis in sickle cell disease

Journal Article · 2021 Curative gene therapies for sickle cell disease (SCD) are currently undergoing clinical evaluation. However, the occurrence of several myeloid malignancy cases in these trials has prompted safety concerns. Individuals with SCD are predisposed to myeloid ma ... Full text Cite

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Journal Article Nat Commun · December 18, 2020 Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse effects, we perform genome-wide anal ... Full text Link to item Cite

Genome Wide Association Analysis of Iron Overload in the Trans-Omics for Precision Medicine (TOPMed) Sickle Cell Disease Cohorts

Conference Blood · November 5, 2020 Introduction: Transfusional iron (Fe) overload is a significant problem among patients with chronic, transfusion-dependent anemias. Iron overload is an important problem in pediatric sickle cell disease (SCD) patients on chronic transfusion regimen ... Full text Cite

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Journal Article Nature · October 2020 Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unknown1. The age-related acquisition of somatic mutations that lead to clonal expansion in regenerating haematopoietic s ... Full text Link to item Cite

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.

Journal Article Nat Genet · September 2020 Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests have limited scope to leverage variant functions. We propose STAAR (variant-set test for ass ... Full text Link to item Cite

Curative vs targeted therapy for SCD: does it make more sense to address the root cause than target downstream events?

Journal Article Blood Adv · July 28, 2020 Sickle cell disease (SCD) places a heavy burden on a global and increasing population predominantly resident in resource-poor and developing countries. Progress continues to be made in preventing childhood mortality, and increasing numbers of chronically i ... Full text Link to item Cite

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Journal Article Nat Commun · April 1, 2020 An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Full text Link to item Cite

Serum albumin is independently associated with higher mortality in adult sickle cell patients: Results of three independent cohorts.

Journal Article PLoS One · 2020 Sickle cell disease (SCD) impacts liver and kidney function as well as skin integrity. These complications, as well as the hyperinflammatory state of SCD, could affect serum albumin. Serum albumin has key roles in antioxidant, anti-inflammatory and antithr ... Full text Link to item Cite

Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma.

Conference Chest · December 2019 BACKGROUND: Asthma is a common respiratory disorder with a highly heterogeneous nature that remains poorly understood. The objective was to use whole genome sequencing (WGS) data to identify regions of common genetic variation contributing to lung function ... Full text Link to item Cite

Phase 1 Single (SAD) and Multiple Ascending Dose (MAD) Studies of the Safety, Tolerability, Pharmacokinetics (PK) and Pharmacodynamics (PD) of FT-4202, an Allosteric Activator of Pyruvate Kinase-R, in Healthy and Sickle Cell Disease Subjects

Conference Blood · November 13, 2019 Background: The hallmark of sickle cell disease (SCD) is hemoglobin S (HbS) polymerization upon deoxygenation, resulting in red blood cell (RBC) sickling, oxidative damage, membrane damage, hemolysis, chronic anemia, vaso-occlusions and inflammatio ... Full text Cite

Identification of Optimal Thalassemia Screening Strategies for Migrant Populations in Thailand: A Mixed-Methods Approach

Conference Blood · November 13, 2019 BACKGROUND: Severe thalassemia is common in Southeast Asia (SEA) and can lead to transfusion dependent anemia, growth retardation, and perinatal death. Prevention and control of thalassemia can be approached either preconceptionally (through carrie ... Full text Cite

Nitric oxide loading reduces sickle red cell adhesion and vaso-occlusion in vivo.

Journal Article Blood Adv · September 10, 2019 Sickle red blood cells (SSRBCs) are adherent to the endothelium, activate leukocyte adhesion, and are deficient in bioactive nitric oxide (NO) adducts such as S-nitrosothiols (SNOs), with reduced ability to induce vasodilation in response to hypoxia. All t ... Full text Open Access Link to item Cite

Therapeutic strategies for sickle cell disease: towards a multi-agent approach.

Journal Article Nat Rev Drug Discov · February 2019 For over 100 years, clinicians and scientists have been unravelling the consequences of the A to T substitution in the β-globin gene that produces haemoglobin S, which leads to the systemic manifestations of sickle cell disease (SCD), including vaso-occlus ... Full text Link to item Cite

RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes.

Conference PLoS One · 2019 Kidney failure occurs in 5-13% of individuals with sickle cell disease and is associated with early mortality. Two APOL1 alleles (G1 and G2) have been identified as risk factors for sickle cell disease nephropathy. Both risk alleles are prevalent in indivi ... Full text Link to item Cite

Functions of blood group antigens

Chapter · January 1, 2019 This chapter reviews knowledge about erythrocyte membrane proteins that bear blood group antigens and whose functional importance has been characterized. It focuses on two of the most interesting of these proteins: the anion exchanger protein, which bears ... Full text Cite

Clinical and metabolomic risk factors associated with rapid renal function decline in sickle cell disease.

Journal Article Am J Hematol · December 2018 Sickle cell disease (SCD) nephropathy and lower estimated glomerular filtration rate (eGFR) are risk factors for early mortality. Furthermore, rate of eGFR decline predicts progression to end-stage renal disease in many clinical settings. However, factors ... Full text Link to item Cite

Knowledge, Cultural, and Structural Barriers to Thalassemia Screening in Migrant Populations in Thailand

Conference Blood · November 29, 2018 AbstractBACKGROUND: Thalassemia syndromes are inherited hemoglobin (Hb) disorders that most severely affect Southeast Asia (SEA). As a result of population migration, thalassemia has grown into a global heal ... Full text Cite

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Journal Article Nat Commun · August 23, 2018 The original version of this article contained an error in the name of the author Ramachandran S. Vasan, which was incorrectly given as Vasan S. Ramachandran. This has now been corrected in both the PDF and HTML versions of the article. ... Full text Link to item Cite

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.

Journal Article Nat Commun · August 23, 2018 Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X and analyze genotypes with four quantitative traits-p ... Full text Link to item Cite

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Journal Article Nat Commun · July 4, 2018 Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that varies in concentrations across ancestries. Here, we use d ... Full text Link to item Cite

Depression, quality of life, and medical resource utilization in sickle cell disease.

Journal Article Blood Adv · October 24, 2017 Sickle cell disease (SCD) is a chronic, debilitating disorder. Chronically ill patients are at risk for depression, which can affect health-related quality of life (HRQoL), health care utilization, and cost. We performed an analytic epidemiologic prospecti ... Full text Open Access Link to item Cite

Developing new pharmacotherapeutic approaches to treating sickle-cell disease.

Journal Article ISBT Sci Ser · February 2017 Survival for patients with SCD has been prolonged by improvements in supportive care, including vaccinations, antibiotic prophylaxis, and overall medical management, including tra nsfusion. However, there remains only one approved, partially effective drug ... Full text Link to item Cite

Communications: To contributors to the 2017 issues

Journal Article Immunohematology · January 1, 2017 Cite

Thrombospondin-1 Polymorphisms Are Associated with Chronic Kidney Disease in Sickle Cell Anemia

Conference Blood · December 2, 2016 AbstractBackground: Sickle cell anemia (SCA) is characterized by the "sickling" of red blood cells (RBCs) and red cell rigidity, as well as increased cellular adhesiveness of blood cells and endothelium, lea ... Full text Cite

Factors Related to the Progression of Sickle Cell Disease Nephropathy

Conference Blood · December 2, 2016 AbstractBACKGROUND: As life expectancy in sickle cell disease (SCD) has continued to increase, chronic diseases are playing a bigger role in morbidity and mortality in this population. SCD nephropathy is a k ... Full text Cite

GWAS Meta-Analysis of Glomerular Filtration Rate in Three Cohorts of Sickle Cell Disease Patients and In Vivo Functional Analysis Reveals Potential Nephropathy Candidate Genes

Conference Blood · December 2, 2016 AbstractBACKGROUND: Sickle cell disease nephropathy (SCDN) is a common complication of sickle cell disease (SCD) associated with risk for early mortality (Platt et al., 1994; Elmari ... Full text Cite

Use of Mobile Technology to Monitor Pain and Reduce Outpatient, Emergency Department (ED), and Hospital Visits for Sickle Cell Pain Crisis

Conference Blood · December 2, 2016 AbstractIntroduction: Sickle cell disease (SCD) is a chronic illness associated with frequent medical complications and hospitalizations. Importantly, approximately ninety percent of hospitalizations are for ... Full text Cite

Effect of FXIII Polymorphism on Formation of Heterocellular Aggregates in SCD

Conference Blood · December 2, 2016 AbstractBACKGROUND: We have recently identified a SNP (rs5988) in the gene encoding the factor XIII A chain (F13A) that is highly associated with risk for priapism in SCD. The P val ... Full text Cite

Sevuparin binds to multiple adhesive ligands and reduces sickle red blood cell-induced vaso-occlusion.

Journal Article Br J Haematol · December 2016 Sevuparin is a novel drug candidate in phase II development as a treatment for vaso-occlusive crises (VOC) in patients with sickle cell disease (SCD). As a heparin-derived polysaccharide, sevuparin has been designed to retain anti-adhesive properties, whil ... Full text Link to item Cite

Beyond hydroxyurea: new and old drugs in the pipeline for sickle cell disease.

Journal Article Blood · February 18, 2016 Despite Food and Drug Administration (FDA) approval of hydroxyurea to reduce the frequency of vaso-occlusive episodes, sickle cell disease (SCD) has continued to be treated primarily with analgesics for pain relief. However, elucidation of the multiple pat ... Full text Link to item Cite

Phase 1 Study of a Sulforaphane-Containing Broccoli Sprout Homogenate for Sickle Cell Disease.

Journal Article PLoS One · 2016 Sickle cell disease (SCD) is the most common inherited hemoglobinopathy worldwide. Our previous results indicate that the reduced oxidative stress capacity of sickle erythrocytes may be caused by decreased expression of NRF2 (Nuclear factor (erythroid-deri ... Full text Link to item Cite

A comprehensive joint analysis of the long and short RNA transcriptomes of human erythrocytes.

Journal Article BMC Genomics · November 16, 2015 BACKGROUND: Human erythrocytes are terminally differentiated, anucleate cells long thought to lack RNAs. However, previous studies have shown the persistence of many small-sized RNAs in erythrocytes. To comprehensively define the erythrocyte transcriptome, ... Full text Link to item Cite

Validation of a novel point of care testing device for sickle cell disease.

Journal Article BMC Med · September 16, 2015 BACKGROUND: Sickle cell disease is one of the most common inherited blood disorders. Universal screening and early intervention have significantly helped to reduce childhood mortality in high-resource countries. However, persons living in low-resource sett ... Full text Link to item Cite

In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress.

Journal Article PLoS Genet · July 2015 African Americans have a disproportionate risk for developing nephropathy. This disparity has been attributed to coding variants (G1 and G2) in apolipoprotein L1 (APOL1); however, there is little functional evidence supporting the role of this protein in r ... Full text Open Access Link to item Cite

Alloimmunization in sickle cell disease: changing antibody specificities and association with chronic pain and decreased survival.

Journal Article Transfusion · June 2015 BACKGROUND: Alloimmunization remains a significant complication of transfusion and has been associated with multiple factors, including inflammation, an important pathophysiologic mechanism in sickle cell disease (SCD). We explored whether alloimmunization ... Full text Link to item Cite

Randomized phase 2 study of GMI-1070 in SCD: reduction in time to resolution of vaso-occlusive events and decreased opioid use.

Journal Article Blood · April 23, 2015 Treatment of vaso-occlusive crises (VOC) or events in sickle cell disease (SCD) remains limited to symptom relief with opioids. Animal models support the effectiveness of the pan-selectin inhibitor GMI-1070 in reducing selectin-mediated cell adhesion and a ... Full text Link to item Cite

Biomarkers and recent advances in the management and therapy of sickle cell disease.

Journal Article F1000Res · 2015 Although production of hemoglobin S, the genetic defect that causes sickle cell disease (SCD), directly affects only red blood cells, the manifestations of SCD are pervasive, and almost every cell type and organ system in the body can be involved. Today, t ... Full text Link to item Cite

Pan-Selectin Antagonist Rivipansel (GMI-1070) Reduces Soluble E-Selectin Levels While Improving Clinical Outcomes in SCD Vaso-Occlusive Crisis

Conference Blood · December 6, 2014 AbstractIntroduction: The pan-selectin antagonist rivipansel (GMI-1070) reduced intravascular arrest of red/white blood cell aggregates and improved blood flow and survival in a mouse model of sickle cell di ... Full text Cite

Factors associated with survival in a contemporary adult sickle cell disease cohort.

Journal Article Am J Hematol · May 2014 In this study, the relationship of clinical differences among patients with sickle cell disease (SCD) was examined to understand the major contributors to early mortality in a contemporary cohort. Survival data were obtained for 542 adult subjects who were ... Full text Link to item Cite

Cellular adhesion and the endothelium: E-selectin, L-selectin, and pan-selectin inhibitors.

Journal Article Hematol Oncol Clin North Am · April 2014 The pathophysiology of vasoocclusion is thought to involve a wide variety of adhesive interactions involving erythrocytes, leukocytes, and the endothelium. Selectins are expressed by leukocytes, platelets, and the endothelium, among other tissues. They con ... Full text Link to item Cite

An official American Thoracic Society clinical practice guideline: diagnosis, risk stratification, and management of pulmonary hypertension of sickle cell disease.

Journal Article Am J Respir Crit Care Med · March 15, 2014 BACKGROUND: In adults with sickle cell disease (SCD), an increased tricuspid regurgitant velocity (TRV) measured by Doppler echocardiography, an increased serum N-terminal pro-brain natriuretic peptide (NT-pro-BNP) level, and pulmonary hypertension (PH) di ... Full text Link to item Cite

Cellular adhesion and the endothelium: E-selectin, L-selectin, and pan-selectin inhibitors

Journal Article Hematology/Oncology Clinics of North America · 2014 Cite

Phase 1 study of the E-selectin inhibitor GMI 1070 in patients with sickle cell anemia.

Journal Article PLoS One · 2014 BACKGROUND: Sickle cell anemia is an inherited disorder of hemoglobin that leads to a variety of acute and chronic complications. Abnormal cellular adhesion, mediated in part by selectins, has been implicated in the pathophysiology of the vaso-occlusion se ... Full text Link to item Cite

Teaching evidence-based medicine in the former Soviet Union: lessons learned.

Journal Article Trans Am Clin Climatol Assoc · 2014 Between 2009 and 2012, I taught principles of evidence-based medicine and clinical research in Russia, Tatarstan, Moldova, and Kazakhstan. The Soviet Union left a medical legacy characterized by balkanization of top tier medicine in highly specialized cent ... Link to item Cite

GMI 1070: Reduction In Time To Resolution Of Vaso-Occlusive Crisis and Decreased Opioid Use In a Prospective, Randomized, Multi-Center Double Blind, Adaptive Phase 2 Study In Sickle Cell Disease

Conference Blood · November 15, 2013 AbstractBackgroundTreatment for vaso-occlusive crisis (VOC) in sickle cell disease (SCD) remains supportive, focusing largely on sympt ... Full text Cite

Effects Of GMI 1070, a Pan-Selectin Inhibitor, On Pain Intensity and Opioid Utilization In Sickle Cell Disease

Conference Blood · November 15, 2013 AbstractBackgroundManagement of acute, painful vaso-occlusive crisis (VOC), the hallmark of sickle cell dise ... Full text Cite

In Vivo Modeling Of Genetic Mechanisms Associated With Sickle Cell Disease Nephropathy

Conference Blood · November 15, 2013 AbstractEnd-organ damage in patients with sickle cell disease (SCD) has become an emergent clinical priority over recent decades due to the increased lifespan of affected individuals. Renal failure (ESRD), w ... Full text Cite

Sevuparin Reduces Adhesion Of Both Sickle Red Cells and Leukocytes To Endothelial Cells In Vitro and Inhibits Vaso-Occlusion In Vivo

Conference Blood · November 15, 2013 AbstractIntroductionSevuparin is a new chemically modified heparin with low anticoagulant activity currently being studied as an adjuv ... Full text Cite

Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients.

Journal Article Blood · July 18, 2013 Patients with sickle cell disease (SCD) present with a wide range of clinical complications. Understanding this clinical heterogeneity offers the prospects to tailor the right treatments to the right patients and also guide the development of novel therapi ... Full text Link to item Cite

IMPROVE trial: a randomized controlled trial of patient-controlled analgesia for sickle cell painful episodes: rationale, design challenges, initial experience, and recommendations for future studies.

Journal Article Clin Trials · April 2013 BACKGROUND: The hallmark of sickle cell disease (SCD) is pain from a vaso-occlusive crisis. Although ambulatory pain accounts for most days in pain, pain is also the most common cause of hospitalization and is typically treated with parenteral opioids. The ... Full text Link to item Cite

Sickle erythrocytes target cytotoxics to hypoxic tumor microvessels and potentiate a tumoricidal response.

Journal Article PLoS One · 2013 Resistance of hypoxic solid tumor niches to chemotherapy and radiotherapy remains a major scientific challenge that calls for conceptually new approaches. Here we exploit a hitherto unrecognized ability of sickled erythrocytes (SSRBCs) but not normal RBCs ... Full text Open Access Link to item Cite

Effect of propranolol as antiadhesive therapy in sickle cell disease.

Journal Article Clin Transl Sci · December 2012 Sickle red blood cells (SSRBCs) adhere to both endothelial cells (ECs) and the extracellular matrix. Epinephrine elevates cyclic adenosine monophosphate in SSRBCs and increases adhesion of SSRBCs to ECs in a β-adrenergic receptor and protein kinase A-depen ... Full text Link to item Cite

Pan-Selectin Antagonist GMI-1070 Affects Biomarkers of Adhesion, Activation and the Coagulation Cascade in Sickle Cell Adults At Steady State

Conference Blood · November 16, 2012 AbstractAbstract 87Introduction:Engagement of selectins by their ligands leads to cellular activation ... Full text Cite

Characterization of the hypercoagulable state in patients with sickle cell disease.

Journal Article Thromb Res · November 2012 BACKGROUND: The pathophysiology of sickle cell disease (SCD) is complex, with increasing evidence of a pronounced prothrombotic state. OBJECTIVE: We investigated thrombin generation in SCD utilizing calibrated automated thrombography (CAT) and D-dimer, wit ... Full text Link to item Cite

Translocation of sickle cell erythrocyte microRNAs into Plasmodium falciparum inhibits parasite translation and contributes to malaria resistance.

Journal Article Cell Host Microbe · August 16, 2012 Erythrocytes carrying a variant hemoglobin allele (HbS), which causes sickle cell disease and resists infection by the malaria parasite Plasmodium falciparum. The molecular basis of this resistance, which has long been recognized as multifactorial, remains ... Full text Link to item Cite

Mechanisms behind adhesive erythrocytes in sickle‐cell disease

Journal Article ISBT Science Series · July 2012 Erythrocytes containing primarily hemoglobin S (SS RBCs) are abnormally adherent to a number of ligands, including normal constituents of the extracellular matrix as well as those present on the surfaces of other blood cells and endothelial cells. ... Full text Cite

GMI-1070: Pan-selectin antagonist treatment of sickle cell disease

Journal Article Drugs of the Future · June 1, 2012 GMI-1070 is a rationally designed carbohydrate molecule created as an antagonist of all selectin proteins. Selectins are adhesion molecules expressed by many hematopoietic and endothelial cells. They mediate early stages of cell adhesion and are therefore ... Full text Cite

Dynamic quantitative microscopy and nanoscopy of red blood cells in sickle cell disease

Conference Progress in Biomedical Optics and Imaging - Proceedings of SPIE · April 16, 2012 We have applied wide-field digital interferometric techniques to quantitatively image sickle red blood cells (RBCs) [1] in a noncontact label-free manner, and measure the nanometer-scale fluctuations in their thickness as an indication of their stiffness. ... Full text Cite

Erythrocyte plasma membrane-bound ERK1/2 activation promotes ICAM-4-mediated sickle red cell adhesion to endothelium.

Journal Article Blood · February 2, 2012 The core pathology of sickle cell disease (SCD) starts with the erythrocyte (RBC). Aberration in MAPK/ERK1/2 signaling, which can regulate cell adhesion, occurs in diverse pathologies. Because RBCs contain abundant ERK1/2, we predicted that ERK1/2 is funct ... Full text Link to item Cite

Novel optical signature for sickle cell trait red blood cells

Journal Article Frontiers in Optics, FIO 2012 · January 1, 2012 We identified unique optical signatures for sickle cell trait, a condition where heterozygous individuals are carriers for the hemoglobin allele that causes sickle cell anemia, by using wide-field interferometric microscopy. © OSA 2012. ... Full text Cite

GMI-1070: Pan-selectin antagonist treatment of sickle cell disease

Journal Article Drugs of the Future · January 1, 2012 GMI-1070 is a rationally designed carbohydrate molecule created as an antagonist of all selectin proteins. Selectins are adhesion molecules expressed by many hematopoietic and endothelial cells. They mediate early stages of cell adhesion and are therefore ... Full text Cite

A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.

Journal Article PLoS One · 2012 Serum bilirubin levels have been associated with polymorphisms in the UGT1A1 promoter in normal populations and in patients with hemolytic anemias, including sickle cell anemia. When hemolysis occurs circulating heme increases, leading to elevated bilirubi ... Full text Link to item Cite

Kikuchi-Fugimoto's disease in sickle cell disease: report of 2 cases.

Journal Article J Natl Med Assoc · 2012 Kikuchi-Fugimoto's Disease (KFD), also known as histiocytic necrotizing lymphadenitis, is most frequently seen in young women and has been associated with autoimmune disorders such as polymyositis and systemic lupus erythematosus. It is generally a self-li ... Full text Link to item Cite

Opioid patient controlled analgesia use during the initial experience with the IMPROVE PCA trial: a phase III analgesic trial for hospitalized sickle cell patients with painful episodes.

Journal Article Am J Hematol · December 2011 Opioid analgesics administered by patient-controlled analgesia (PCA)are frequently used for pain relief in children and adults with sickle cell disease (SCD) hospitalized for persistent vaso-occlusive pain, but optimum opioid dosing is not known. To better ... Full text Link to item Cite

Sickle Red Blood Cell Induced Adhesion of Neutrophils to Endothelial Cells and Biologic Correlates of Leukocyte Activation

Conference Blood · November 18, 2011 Abstract 1055In sickle cell disease (SCD), any event that slows the passage of red blood cells (RBCs) in the microcirculation can promote hemoglobin polymerization, red cell sickling, and vaso-occlusion. Homozygous ... Full text Cite

Impaired adenosine-5'-triphosphate release from red blood cells promotes their adhesion to endothelial cells: a mechanism of hypoxemia after transfusion.

Journal Article Crit Care Med · November 2011 OBJECTIVE: Transfusion of red blood cells has been linked to disappointing clinical outcomes in the critically ill, but specific mechanisms of organ dysfunction after transfusion remain poorly understood. We tested the hypothesis that red blood cell storag ... Full text Link to item Cite

MYH9 and APOL1 are both associated with sickle cell disease nephropathy.

Journal Article Br J Haematol · November 2011 Renal failure occurs in 5-18% of sickle cell disease (SCD) patients and is associated with early mortality. At-risk SCD patients cannot be identified prior to the appearance of proteinuria and the pathobiology is not well understood. The myosin, heavy chai ... Full text Link to item Cite

RNA aptamer therapy for vaso-occlusion in sickle cell disease.

Journal Article Nucleic Acid Ther · August 2011 Patients with sickle cell disease (SCD) often suffer painful vaso-occlusive episodes caused in part by the adhesion of sickle erythrocytes (SS-RBC) to the vascular endothelium. To investigate inhibition of SS-RBC adhesion as a possible treatment for vaso-o ... Full text Link to item Cite

Quantitative microscopy and nanoscopy of sickle red blood cells performed by wide field digital interferometry.

Journal Article J Biomed Opt · March 2011 We have applied wide-field digital interferometry (WFDI) to examine the morphology and dynamics of live red blood cells (RBCs) from individuals who suffer from sickle cell anemia (SCA), a genetic disorder that affects the structure and mechanical propertie ... Full text Link to item Cite

The effects of hydroxycarbamide and magnesium on haemoglobin SC disease: results of the multi-centre CHAMPS trial.

Journal Article Br J Haematol · March 2011 In a phase-II multi-centre double-blinded trial, we evaluated haematological effects of oral hydroxycarbamide (HC) and magnesium (Mg) in patients with HbSC, aged 5-53 years old. Subjects were randomized to HC + placebo, Mg + placebo, HC + Mg, or placebo + ... Full text Link to item Cite

Red Blood Cell Release Of ATP Prevents Endothelial Adhesion: Implications For Post-Transfusion Lung Dysfunction

Journal Article AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE · January 1, 2011 Link to item Cite

Hydroxyurea Induces Genome-Wide Epigenetic Changes In Sickle Cell Disease

Conference Blood · November 19, 2010 AbstractAbstract 2670Introduction:Hydroxyurea (HU) is currently the only pharmacologic agent widely u ... Full text Cite

microRNA miR-144 modulates oxidative stress tolerance and associates with anemia severity in sickle cell disease.

Journal Article Blood · November 18, 2010 Featured Publication Although individuals with homozygous sickle cell disease (HbSS) share the same genetic mutation, the severity and manifestations of this disease are extremely heterogeneous. We have previously shown that the microRNA expression in normal and HbSS erythrocy ... Full text Link to item Cite

The relationship of opioid analgesia to quality of life in an adult sickle cell population

Journal Article Health Outcomes Research in Medicine · July 1, 2010 Background: Pain is a limiting factor in the daily life activities of sickle cell disease (SCD) patients. Although opioid analgesics are widely used, to date there have been no studies on the relationship of daily opioid use to quality of life (QoL) measur ... Full text Cite

Placenta growth factor in sickle cell disease: association with hemolysis and inflammation.

Journal Article Blood · March 11, 2010 Featured Publication Placenta growth factor (PlGF) is released by immature erythrocytes and is elevated in sickle cell disease (SCD). Previous data generated in vitro suggest that PlGF may play a role in the pathophysiology of SCD-associated pulmonary hypertension (PHT) by ind ... Full text Link to item Cite

Functions of Blood Group Antigens

Journal Article · March 10, 2010 Full text Cite

Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.

Journal Article Blood · March 4, 2010 Featured Publication In a genome-wide association study of 848 blacks with sickle cell anemia, we identified single nucleotide polymorphisms (SNPs) associated with fetal hemoglobin concentration. The most significant SNPs in a discovery sample were tested in a replication set ... Full text Link to item Cite

Adherence to hydroxyurea therapy in children with sickle cell anemia.

Journal Article J Pediatr · March 2010 OBJECTIVES: To assess adherence to hydroxyurea therapy in children with sickle cell anemia (SCA), evaluate the association between adherence and hematologic profile, and identify barriers and facilitators of adherence. STUDY DESIGN: Children with SCA (n=75 ... Full text Link to item Cite

Dose of prophylactic platelet transfusions and prevention of hemorrhage.

Journal Article N Engl J Med · February 18, 2010 BACKGROUND: We conducted a trial of prophylactic platelet transfusions to evaluate the effect of platelet dose on bleeding in patients with hypoproliferative thrombocytopenia. METHODS: We randomly assigned hospitalized patients undergoing hematopoietic ste ... Full text Link to item Cite

Costs and length of stay for patients with and without sickle cell disease after hysterectomy, appendectomy, or knee replacement.

Journal Article Am J Hematol · January 2010 Patients with sickle cell disease (SCD) who undergo surgical procedures experience greater risk for preoperative and postoperative complications than patients without SCD; however, the impact of SCD on inpatient resource use and costs had not been reported ... Full text Link to item Cite

Cardiopulmonary complications leading to premature deaths in adult patients with sickle cell disease.

Journal Article Am J Hematol · January 2010 Sickle cell disease (SCD) is associated with early mortality. We sought to determine the incidence, cause, and risk factors for death in an adult population of patients with SCD. All patients aged >/=18 years seen at the Adult Sickle Cell Center at Duke Un ... Full text Link to item Cite

Definitions of the phenotypic manifestations of sickle cell disease.

Journal Article Am J Hematol · January 2010 Featured Publication Sickle cell disease (SCD) is a pleiotropic genetic disorder of hemoglobin that has profound multiorgan effects. The low prevalence of SCD ( approximately 100,000/US) has limited progress in clinical, basic, and translational research. Lack of a large, read ... Full text Link to item Cite

Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study.

Journal Article Am J Hematol · January 2010 Featured Publication We conducted a genome-wide association study (GWAS) to discover single nucleotide polymorphisms (SNPs) associated with the severity of sickle cell anemia in 1,265 patients with either "severe" or "mild" disease based on a network model of disease severity. ... Full text Link to item Cite

Polymorphisms in TNFα Are Associated with Cerebrovascular Events in Sickle Cell Disease.

Conference Blood · November 20, 2009 AbstractAbstract 1540Poster Board I-563Tumor necrosis factor alpha (TNFα) is a pro-inflammatory cytokine that stimulates phagocytosis, neutro ... Full text Cite

Genetic Polymorphisms in NEDD4L Are Associated with Pulmonary Hypertension of Sickle Cell Anemia.

Conference Blood · November 20, 2009 AbstractAbstract 2562Poster Board II-539Pulmonary hypertension (PH) is present in up to 43% of adults with sickle cell anemia (SCA; homozygos ... Full text Cite

Outcomes of inpatients with and without sickle cell disease after high-volume surgical procedures.

Journal Article Am J Hematol · November 2009 In this study, we examined differences in inpatient costs, length of stay, and in-hospital mortality between hospitalizations for patients with and without sickle cell disease (SCD) undergoing high-volume surgical procedures. We used Clinical Classificatio ... Full text Link to item Cite

Sickle red cells induce adhesion of lymphocytes and monocytes to endothelium.

Journal Article Blood · October 15, 2008 Featured Publication Infusion of epinephrine-activated human sickle erythrocytes (SS RBCs) into nude mice promotes both SS RBC and murine leukocyte adhesion to vascular endothelium in vivo. We hypothesized that interaction of epinephrine-stimulated SS RBCs with leukocytes lead ... Full text Link to item Cite

Surgical and obstetric outcomes in adults with sickle cell disease.

Journal Article Am J Med · October 2008 BACKGROUND: Sickle cell disease patients are more likely than the general population to undergo surgery and usually do so at a younger age. Female sickle cell disease patients also have special gynecological and obstetric issues related to their disease. M ... Full text Link to item Cite

It really IS the red cell.

Journal Article Blood · August 1, 2008 Full text Link to item Cite

Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease.

Journal Article Blood · June 15, 2008 Featured Publication Up to 30% of adult patients with sickle cell disease (SCD) will develop pulmonary hypertension (pHTN), a complication associated with significant morbidity and mortality. To identify genetic factors that contribute to risk for pHTN in SCD, we performed ass ... Full text Link to item Cite

The genomic analysis of erythrocyte microRNA expression in sickle cell diseases.

Journal Article PLoS One · June 4, 2008 BACKGROUND: Since mature erythrocytes are terminally differentiated cells without nuclei and organelles, it is commonly thought that they do not contain nucleic acids. In this study, we have re-examined this issue by analyzing the transcriptome of a purifi ... Full text Open Access Link to item Cite

Lack of Duffy antigen expression is associated with organ damage in patients with sickle cell disease.

Journal Article Transfusion · May 2008 Featured Publication BACKGROUND: The Duffy glycoprotein (Fy) on red blood cells (RBCs) has been hypothesized to promote clearance of inflammatory cytokines, which may play a role in the pathogenesis of vasoocclusion in sickle cell disease (SCD). Persons with the African-type F ... Full text Link to item Cite

beta(2)-Adrenergic receptor and adenylate cyclase gene polymorphisms affect sickle red cell adhesion.

Journal Article Br J Haematol · April 2008 Featured Publication Sickle red cell (SS RBC) adhesion is thought to contribute to sickle cell disease (SCD) pathophysiology. SS RBC adhesion to laminin increases in response to adrenaline stimulation of beta(2)-adrenergic receptors (beta(2)ARs) and adenylate cyclase (ADCY6), ... Full text Link to item Cite

Pulmonary hypertension associated with sickle cell disease: clinical and laboratory endpoints and disease outcomes.

Journal Article Am J Hematol · January 2008 Featured Publication Screening for pulmonary hypertension (pHTN) has not yet become routine in sickle cell disease (SCD), despite clinical evidence of its high prevalence and associated mortality. Our objectives are to identify clinical conditions and laboratory findings predi ... Full text Link to item Cite

Role and regulation of sickle red cell interactions with other cells: ICAM-4 and other adhesion receptors.

Journal Article Transfus Clin Biol · 2008 Featured Publication Erythrocytes containing primarily hemoglobin S (SS RBCs) are abnormally adherent. We now know that SS RBCs express numerous adhesion molecules, and that many of these can undergo activation. SS RBCs exposed briefly to epinephrine show markedly increased ad ... Full text Link to item Cite

Fludarabine-based nonmyeloablative stem cell transplantation for sickle cell disease with and without renal failure: clinical outcome and pharmacokinetics.

Journal Article Biol Blood Marrow Transplant · December 2007 End-organ damage is common in patients with sickle cell disease (SCD) thereby limiting the use of allogeneic stem cell transplantation (SCT). We report the outcome of 2 adult SCD patients, 1 with end-stage renal disease (ESRD), who underwent fludarabine-ba ... Full text Link to item Cite

The Effects of Chronic Opiates Pain Therapy in Sickle Cell Anemia.

Conference Blood · November 16, 2007 AbstractSickle cell disease (SCD) patients experience high rates of morbidity and early mortality. Hydroxyurea (HU) therapy is associated with decreased morbidity and mortality as well as improved patient he ... Full text Cite

Evolution of adverse changes in stored RBCs.

Journal Article Proc Natl Acad Sci U S A · October 23, 2007 Featured Publication Recent studies have underscored questions about the balance of risk and benefit of RBC transfusion. A better understanding of the nature and timing of molecular and functional changes in stored RBCs may provide strategies to improve the balance of benefit ... Full text Link to item Cite

Epinephrine-induced activation of LW-mediated sickle cell adhesion and vaso-occlusion in vivo.

Journal Article Blood · October 1, 2007 Featured Publication Sickle red cell (SS RBC) adhesion is believed to contribute to the process of vaso-occlusion in sickle cell disease (SCD). We previously found that the LW RBC adhesion receptor can be activated by epinephrine to mediate SS RBC adhesion to endothelial alpha ... Full text Link to item Cite

Genetic polymorphisms associated with priapism in sickle cell disease.

Journal Article Br J Haematol · May 2007 Priapism occurs in 30-45% of male patients with sickle cell disease (SCD), but the possible influence of genetic risk factors on the incidence of priapism is not well understood. We examined genetic polymorphisms in 199 unrelated, adult (>18 years), male p ... Full text Link to item Cite

Innovative Drug Design Using RNA Aptamers for Various Anemias

Journal Article Oncology & Hematology Review (US) · 2007 ... Full text Cite

Role of adhesion molecules and vascular endothelium in the pathogenesis of sickle cell disease.

Journal Article Hematology Am Soc Hematol Educ Program · 2007 A number of lines of evidence now support the hypothesis that vaso-occlusion and several of the sequelae of sickle cell disease (SCD) arise, at least in part, from adhesive interactions of sickle red blood cells, leukocytes, and the endothelium. Both exper ... Full text Link to item Cite

Lack of isohemagglutinin production following minor ABO incompatible unrelated HLA mismatched umbilical cord blood transplantation.

Journal Article Bone Marrow Transplant · July 2006 While immune hemolysis due to donor isohemagglutinin (IH) production often complicates minor ABO incompatible peripheral blood hematopoietic stem cell transplantation (PBSCT), it is not known if this occurs with umbilical cord blood transplantation (UCBT). ... Full text Link to item Cite

The Lutheran glycoprotein: a multifunctional adhesion receptor.

Journal Article Transfusion · April 2006 The Lutheran blood group system, which comprises one of the largest families of human red blood cell (RBC) antigens, resides on two immunoglobulin superfamily (IgSF) proteins: Lutheran and basal cell adhesion molecule (B-CAM). These two glycoproteins arise ... Full text Link to item Cite

LW protein: a promiscuous integrin receptor activated by adrenergic signaling.

Journal Article Transfus Clin Biol · 2006 The LW blood group antigen glycoprotein, although part of the Rh macromolecular complex, is nonetheless a member of the intercellular adhesion molecule (ICAM) family. Thus, while it is only rarely clinically important in the setting of transfusion and preg ... Full text Link to item Cite

Transfusion management in sickle cell disease.

Journal Article Hematol Oncol Clin North Am · October 2005 Sickle cell disease (SCD) is the most commonly inherited hemoglobinopathy in the United States. Blood transfusion is a critical part of the multidisciplinary approach necessary in the management of SCD; however, blood transfusions are not without complicat ... Full text Link to item Cite

Role of Rap1 in promoting sickle red blood cell adhesion to laminin via BCAM/LU.

Journal Article Blood · April 15, 2005 Vaso-occlusion is a hallmark of sickle cell disease. Agonist-induced activation of sickle red blood cells (SS RBCs) promotes their adhesion to vascular proteins, potentially contributing to vasoocclusion. Previously, we described a cyclic adenosine monopho ... Full text Link to item Cite

Erythrocyte adhesion receptors: blood group antigens and related molecules.

Journal Article Transfus Med Rev · January 2005 During the second half of the 20th century, blood bankers quickly expanded our knowledge of human erythrocyte blood group antigens. By the dawn of the 21st century, several hundred blood group antigen polymorphisms had been identified. Hot on the heels of ... Full text Link to item Cite

Epinephrine acts through erythroid signaling pathways to activate sickle cell adhesion to endothelium via LW-alphavbeta3 interactions.

Journal Article Blood · December 1, 2004 The possible role of physiologic stress hormones in enhancing adhesion of sickle erythrocytes (SS RBCs) to endothelial cells (ECs) in sickle cell disease (SCD) has not been previously explored. We have now found that up-regulation of intracellular cyclic a ... Full text Link to item Cite

Genetic Polymorphisms Associated with Risk for Pulmonary Hypertension and Proteinuria in Sickle Cell Disease.

Conference Blood · November 16, 2004 AbstractIn order to identify genetic variants that modify the clinical severity of sickle cell disease (SCD), 118 patients with Hb SS or Hb Sβ0-thalassemia at our centers have undergone echocardiography (ech ... Full text Cite

Pulmonary Hypertension in SS, SC and Sβ Thalassemia: Prevalence, Associated Clinical Syndromes, and Mortality.

Conference Blood · November 16, 2004 AbstractThe natural history and mechanisms associated with pulmonary hypertension (pHTN) in sickle cell disease (SCD) are incompletely characterized. We investigated the prevalence of pHTN, diagnosed by echo ... Full text Cite

Effects of Single Nucleotide Polymorphisms of the β2 Adrenergic Receptor and of Adenylate Cyclase on Sickle Red Cell Adhesion to Laminin.

Conference Blood · November 16, 2004 AbstractSingle nucleotide polymorphisms (SNPs) of the β2 adrenergic receptor (β2AR) gene (ADRB2) on chromosome 5 have been implicated in clinical variability of several cardiopulmonary disorders. Also, Hoppe ... Full text Cite

Epinephrine-Induced Sickle Red Cell Adhesion and Vaso-Occlusion In Vivo Is Inhibited by the β-Adrenoceptor Blocker Propranolol.

Conference Blood · November 16, 2004 AbstractPainful vaso-occlusive episodes in SCD are commonly associated with infection and other less definable stressors. Since epinephrine activates sickle red cell (SS RBC) adhesion in vitro, we studied th ... Full text Cite

Protein Kinases Associated with Activation of Sickle Red Blood Cell Adhesion.

Conference Blood · November 16, 2004 AbstractWe have previously found that activation of adenylate cyclase in sickle red cells (SS RBCs) results in increased RBC adhesion to cultured endothelial cells (EC) through activation of protein kinase A ... Full text Cite

Molecular interactions of B-CAM (basal-cell adhesion molecule) and laminin in epithelial skin cancer.

Journal Article Arch Dermatol Res · July 2004 Molecular events underlying the progression of malignant tumors through the surrounding tissue are largely mediated by membrane-bound adhesion molecules. Basal-cell adhesion molecule (B-CAM), a 90-kDa laminin receptor of the immunoglobulin superfamily, is ... Full text Link to item Cite

B-CAM/LU expression and the role of B-CAM/LU activation in binding of low- and high-density red cells to laminin in sickle cell disease.

Journal Article Am J Hematol · February 2004 Red blood cells from patients with sickle cell disease (SS RBC) adhere to laminin and over-express the high-affinity laminin receptor basal cell adhesion molecule/Lutheran protein (B-CAM/LU). This receptor has recently been shown to undergo activation in v ... Full text Link to item Cite

Examination of VCAM1 as a modulator of stroke risk in sickle cell disease

Conference AMERICAN JOURNAL OF HUMAN GENETICS · November 1, 2003 Link to item Cite

B-CAM/LU modifies sickle cell disease severity

Conference AMERICAN JOURNAL OF HUMAN GENETICS · November 1, 2003 Link to item Cite

Novel epinephrine and cyclic AMP-mediated activation of BCAM/Lu-dependent sickle (SS) RBC adhesion.

Journal Article Blood · April 15, 2003 The vasoocclusive crisis is the major clinical feature of sickle cell anemia, which is believed to be initiated or sustained by sickle (SS) red blood cell (RBC) adhesion to the vascular wall. SS RBCs, but not unaffected (AA) RBCs, adhere avidly to multiple ... Full text Link to item Cite

Erythrocyte adhesion in sickle cell disease.

Journal Article Curr Hematol Rep · March 2003 The vaso-occlusive process in patients with sickle cell disease is complex and is likely to involve interactions between hemoglobin S red blood cells (SS RBCs) and vascular endothelium, as well as between SS RBCs and leukocytes. Vaso-occlusive events lead ... Link to item Cite

Paroxysmal cold hemoglobinuria and cardiopulmonary bypass.

Journal Article Ann Thorac Surg · February 2003 Paroxysmal cold hemoglobinuria, a cold-reactive autoimmune disease associated with the Donath-Landsteiner antibody, has not been described in patients undergoing cardiac surgery. We report a case of mitral valve replacement in a woman with a positive Donat ... Full text Link to item Cite

Red cell antigens as functional molecules and obstacles to transfusion.

Journal Article Hematology Am Soc Hematol Educ Program · 2002 Blood group antigens (BGAs) can act as functional molecules but also can evoke autoantibodies and alloantibodies, causing autoimmune hemolytic anemia, hemolytic disease of the newborn and hemolytic transfusion reactions. In Section I, Dr. Marilyn Telen dis ... Full text Link to item Cite

Principles and problems of transfusion in sickle cell disease.

Journal Article Semin Hematol · October 2001 Sickle cell disease (SCD) is associated with red blood cell (RBC) abnormalities and moderate to severe anemia, and blood transfusion is naturally a mainstay of treatment. However, transfusion therapy for SCD may incur special and distinctive adverse effect ... Full text Link to item Cite

Antibodies exhibiting dosage in gel

Journal Article TRANSFUSION · September 1, 2001 Link to item Cite

Molecular defects underlying the Kell null phenotype.

Journal Article J Biol Chem · July 20, 2001 Expression of the Kell blood group system is dependent on two proteins, Kell and XK, that are linked by a single disulfide bond. Kell, a type II membrane glycoprotein, is a zinc endopeptidase, while XK, which has 10 transmembrane domains, is a putative mem ... Full text Link to item Cite

Re: Use of red blood cell units containing alloantibodies [1]

Journal Article Immunohematology · January 1, 2001 Full text Cite

Use of red blood cell units containing alloantibodies (multiple letters)

Journal Article Immunohematology · January 1, 2001 Cite

Cardiac metastasis from a transitional cell carcinoma: a case report.

Journal Article Med Oncol · May 2000 We report the case of a patient with a metastatic tumor in the right ventricle, apparently derived from a transitional cell carcinoma. The patient presented with severe hypoxemia as a result of right-to-left shunt due to the position of the tumor and a pat ... Full text Link to item Cite

Red blood cell surface adhesion molecules: their possible roles in normal human physiology and disease.

Journal Article Semin Hematol · April 2000 Human erythrocytes express a relatively large number of known adhesion receptors, despite the fact that red blood cells (RBCs) are generally considered to be nonadhesive for endothelial cell surfaces. Some of these adhesion receptors are expressed by many ... Full text Link to item Cite

Large-scale use of red blood cell units containing alloantibodies.

Journal Article Immunohematology · 2000 Many transfusion services are reluctant to accept red blood cell (RBC) units containing antibodies. We evaluated the impact of accepting routine shipments of our region's inventory of alloantibody- positive RBC units over a 4-month period. All patients' sa ... Link to item Cite

Critical factors in basal cell adhesion molecule/lutheran-mediated adhesion to laminin.

Journal Article J Biol Chem · January 8, 1999 Featured Publication Basal cell adhesion molecule (B-CAM) and Lutheran (LU) are two spliceoforms of a single immunoglobulin superfamily protein containing five Ig domains and comprise the sickle (SS) red cell receptor for laminin. We have now analyzed laminin binding to murine ... Full text Link to item Cite

Erratum: (The Journal of Clinical Investigation (June 1998) 101:11 (2550-2558))

Journal Article Journal of Clinical Investigation · July 1, 1998 Cite

Basal cell adhesion molecule/lutheran protein. The receptor critical for sickle cell adhesion to laminin.

Journal Article J Clin Invest · June 1, 1998 Featured Publication Sickle red cells bind significant amounts of soluble laminin, whereas normal red cells do not. Solid phase assays demonstrate that B-CAM/LU binds laminin on intact sickle red cells and that red cell B-CAM/LU binds immobilized laminin, whereas another putat ... Full text Link to item Cite

Leukocyte phenotypic changes in an in vitro model of ABO hemolytic transfusion reaction.

Journal Article Transfusion · September 1997 BACKGROUND: ABO antigen-antibody interaction in the presence of peripheral blood leukocytes (white cells) results in the production of a variety of proinflammatory cytokines. However, although tumor necrosis factor alpha has been shown to be derived at lea ... Full text Link to item Cite

Expression of cell adhesion molecule CD44 in primary tumors of the liver: an immunohistochemical study.

Journal Article Liver · February 1997 CD44, a widely distributed integral membrane protein, has been implicated in tumor invasion and metastatic spread in some human carcinomas and lymphomas. In this study, 35 cases of hepatocellular carcinoma from 32 patients (11 cholangiocarcinomas, 9 hepati ... Full text Link to item Cite

Coordinator's report--section 2D3.

Journal Article Transfus Clin Biol · 1997 Full text Link to item Cite

Biologic functions of blood group antigens.

Journal Article Curr Opin Hematol · November 1996 In the past few years, we have learned a great deal about the biologic function of structures bearing blood group antigens. Some blood group antigen-bearing proteins function as major transport channels within the erythrocyte membrane; these include the an ... Full text Link to item Cite

Introduction of the term “partial D”

Journal Article Transfusion · August 1996 Full text Cite

A blood group-related polymorphism of CD44 abolishes a hyaluronan-binding consensus sequence without preventing hyaluronan binding.

Journal Article J Biol Chem · March 22, 1996 CD44 is a widely expressed integral membrane protein that acts as a receptor for hyaluronan (HA) and is proposed to be important to cell-extracellular matrix interaction. The Indian (In) blood group antigens reside on CD44, and most individuals express the ... Full text Link to item Cite

Modulation of hyaluronan binding to CD44H.

Journal Article BLOOD · November 15, 1995 Link to item Cite

Clinical problem-solving: costly errors.

Journal Article N Engl J Med · October 19, 1995 Link to item Cite

AN ANTI-JMH CAUSING IN-VIVO RED-CELL DESTRUCTION

Journal Article TRANSFUSION · October 1, 1995 Link to item Cite

DOMBROCK PROTEIN - A MONOCYTE ACTIVATION MARKER

Journal Article TRANSFUSION · October 1, 1995 Link to item Cite

ACANTHOCYTOSIS ASSOCIATED WITH PARTIAL CD44 DEFICIENCY

Journal Article TRANSFUSION · October 1, 1995 Link to item Cite

Evidence that CDw108 membrane protein bears the JMH blood group antigen.

Journal Article Transfusion · July 1995 BACKGROUND: CDw108 is a cluster-of-differentiation antigen that resides on a glycosylphosphatidylinositol (GPI)-linked protein; it has not previously been shown to be expressed on red cells. JMH is a high-frequency red cell blood group antigen that resides ... Full text Link to item Cite

Investigations using a novel monoclonal antibody to the glycosylphosphatidylinositol-anchored protein that carries Gregory, Holley, and Dombrock blood group antigens.

Journal Article Transfusion · June 1995 BACKGROUND: The high-frequency Hy and Gya antigens have been shown to reside on the same protein. Gy(a-) Hy-negative red cells are also Do(a-b-). A mouse monoclonal antibody, 5B10, was produced with specificity related to the human Gregory, Holley, and Dom ... Full text Link to item Cite

JMH variants: serologic, clinical, and biochemical analyses in two cases.

Journal Article Transfusion · 1995 BACKGROUND: JMH is a high-frequency red cell blood group antigen that resides on a 76- to 80-kDa glycosylphosphatidylinositol-linked protein also known as CDw108. Antibodies with JMH specificity are often autoimmune and are usually, if not always, clinical ... Full text Link to item Cite

Identification of the Tcb allele of the Cromer blood group gene by PCR and RFLP analysis.

Journal Article Immunohematology · 1995 The Cromer blood group antigens reside on the complement regulatory protein, decay-accelerating factor (DAF). The Cromer system comprises 10 antigens, 3 of which are of low incidence. When an individual is homozygous for the allele encoding one of these lo ... Link to item Cite

Glycosyl phosphatidylinositol-linked blood group antigens and paroxysmal nocturnal hemoglobinuria.

Journal Article Transfus Clin Biol · 1995 Human erythrocyte cell surface molecules that are attached to the cell membrane by glycosyl-phosphatidylinositol (GPI) anchors include the complement regulatory proteins decay accelerating factor (DAF, CD55) and membrane inhibitor of reactive lysis (MIRL, ... Full text Link to item Cite

Lutheran antigens, CD44-related antigens, and Lutheran regulatory genes.

Journal Article Transfus Clin Biol · 1995 The Lutheran (Lu) blood group antigens are a family of human erythrocyte antigens which reside on two closely-related erythrocyte integral membrane proteins. Sixteen Lutheran or so-called para-Lutheran antigens have thus far been described, and human antis ... Full text Link to item Cite

Molecular mapping of the Cromer blood group Cra and Tca epitopes of decay accelerating factor: toward the use of recombinant antigens in immunohematology.

Journal Article Blood · November 1, 1994 Cromer blood group antigens reside on the complement regulatory protein decay accelerating factor (DAF, CD55). This glycosyl-phosphatidylinositol-anchored glycoprotein is widely distributed, especially among cell types in contact with plasma. Numerous Crom ... Link to item Cite

Expression of the cell adhesion molecule CD44 in gastric adenocarcinomas.

Journal Article Hum Pathol · October 1994 CD44, an integral membrane glycoprotein expressed by many cell types, serves as the principal transmembrane hyaluronate receptor and may be a determinant of metastatic and invasive behavior in carcinomas. The expression of CD44 in 23 gastric adenocarcinoma ... Full text Link to item Cite

MOLECULAR-GENETIC BASIS OF THE IN-A/B POLYMORPHISM

Journal Article TRANSFUSION · October 1, 1994 Link to item Cite

Molecular basis of reduced or absent expression of decay-accelerating factor in Cromer blood group phenotypes.

Journal Article Blood · August 15, 1994 The human erythrocyte blood group system Cromer consists of high-incidence and low-incidence antigens that reside on decay-accelerating factor (DAF; CD55), a glycosyl-phosphatidylinositol-anchored membrane protein that regulates complement activation on ce ... Link to item Cite

Tissue culture of epithelium derived from Barrett's oesophagus.

Journal Article Gut · July 1994 Barrett's oesophagus is a preneoplastic condition in which the squamous mucosa of the oesophagus is replaced by columnar epithelium. Epithelial cells of Barrett's oesophagus were isolated from resected oesophagus specimens by two methods not previously app ... Full text Link to item Cite

EXPRESSION OF CD44 ISOFORMS DURING ERYTHROID-DIFFERENTIATION

Journal Article CLINICAL RESEARCH · April 1, 1994 Link to item Cite

Recent advances in immunohematology.

Journal Article Curr Opin Hematol · March 1994 Knowledge of the biochemistry and genetics of erythrocyte blood group antigens has been growing rapidly over the past several years. Last year, the molecular basis for the major Rh blood group antigens was delineated. In addition, the genetic and biochemic ... Link to item Cite

Rh-related antigen CD47 is the signal-transducer integrin-associated protein.

Journal Article J Biol Chem · January 21, 1994 Integrin-associated protein (IAP) is a 50-kDa membrane protein with an amino-terminal immunoglobulin domain and a carboxyl-terminal multiply membrane-spanning region. It is physically and functionally associated with the integrin alpha v beta 3 vitronectin ... Link to item Cite

Regulation of human CD44H and CD44E isoform binding to hyaluronan by phorbol myristate acetate and anti-CD44 monoclonal and polyclonal antibodies.

Journal Article J Immunol · December 1, 1993 CD44 molecules are comprised of multiple alternatively spliced forms and are associated with diverse functions such as mediation of carcinoma metastasis and T cell coactivation. To study the function of individual CD44 isoforms, we have transfected CD44 is ... Link to item Cite

Human erythrocyte acetylcholinesterase bears the Yta blood group antigen and is reduced or absent in the Yt(a-b-) phenotype.

Journal Article Blood · February 1, 1993 The Cartwright (Yt) blood group antigens have previously been shown likely to reside on a phosphatidylinositol-linked erythrocyte membrane protein. In this study, an unusual individual whose red blood cells (RBCs) were of the previously unreported Yt(a-b-) ... Link to item Cite

More about use of the term Drb.

Journal Article Transfusion · February 1993 Full text Link to item Cite

MORE ABOUT USE OF THE TERM DR(B) - REPLY

Journal Article TRANSFUSION · February 1, 1993 Link to item Cite

Monoclonal antibody recognizing a unique Rh-related specificity.

Journal Article Vox Sang · 1993 A mouse IgG1 monoclonal antibody (MAb) UMRh, was prepared by immunizing Balb/c mice with the Jurkat T cell acute lymphoblastic leukemia (T-ALL) cell line. The MAb UMRh is directed against a widely distributed Rh-related cell surface antigen, present on red ... Full text Link to item Cite

EXPRESSION OF THE CELL-ADHESION MOLECULE CD44 IN GASTRIC ADENOCARCINOMAS

Journal Article LABORATORY INVESTIGATION · January 1, 1993 Link to item Cite

PRIMARY CULTURES OF EPITHELIUM DERIVED FROM BARRETTS-ESOPHAGUS

Journal Article LABORATORY INVESTIGATION · January 1, 1993 Link to item Cite

NEW AND EVOLVING TECHNIQUES FOR ANTIBODY AND ANTIGEN IDENTIFICATION

Conference ALLOIMMUNITY: 1993 AND BEYOND · January 1, 1993 Link to item Cite

What is a blood group antigen?

Journal Article Transfusion · June 1992 Full text Link to item Cite

WHAT IS A BLOOD-GROUP ANTIGEN - REPLY

Journal Article TRANSFUSION · June 1, 1992 Link to item Cite

Isolation of the JMH antigen on a novel phosphatidylinositol-linked human membrane protein.

Journal Article Blood · March 15, 1992 JMH is a high-frequency human erythrocyte blood group antigen. Previous work has shown that JMH is absent from complement-sensitive erythrocytes of patients with paroxysmal nocturnal hemoglobinuria (PNH); such cells have a broad defect in expression of pho ... Link to item Cite

Reply

Journal Article Transfusion · January 1, 1992 Full text Cite

Phosphatidylinositol-glycan linked proteins of the erythrocyte membrane.

Journal Article Baillieres Clin Haematol · December 1991 The human erythrocyte bears a number of proteins anchored to the outer membrane surface via a phosphatidylinositol-glycan linkage. This class of proteins includes several complement regulatory proteins (including decay-accelerating factor, CD59 antigen (pr ... Full text Link to item Cite

Captopril-enhanced binding of PlA1 (HPA-1a) antibodies in posttransfusion purpura.

Journal Article Transfusion · October 1991 A case of posttransfusion purpura is reported in a 90-year-old patient whose PlA1 antibody (anti-HPA-1a) was found to bind better to HPA-1a in the presence of captopril, a drug the patient had taken. Initially, IgG antibodies were found in the serum that r ... Full text Link to item Cite

An auto-anti-M causing hemolysis in vitro.

Journal Article Transfusion · October 1991 A 64-year-old white man, who had never received a transfusion, was found to have anti-M in his serum. The antibody agglutinated all M+ red cells in room-temperature tests. When the ionic strength of the test milieu was reduced by use of an additive solutio ... Full text Link to item Cite

Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype.

Journal Article Blood · September 15, 1991 Glycophorin C (GPC) and glycophorin D (GPD) are highly glycosylated integral membrane proteins of human erythrocytes encoded by the same gene and associated with expression of Gerbich blood group system antigens. GPC/D deficiency (the Leach phenotype) is a ... Link to item Cite

Dr(a-) polymorphism of decay accelerating factor. Biochemical, functional, and molecular characterization and production of allele-specific transfectants.

Journal Article J Clin Invest · June 1991 The Dra antigen belongs to the Cromer-related blood group system, a series of antigens on decay accelerating factor (DAF), a glycosyl-phosphatidylinositol-anchored membrane protein that protects host cells from complement-mediated damage. We studied the ra ... Full text Link to item Cite

Identification of human erythrocyte blood group antigens on the C3b/C4b receptor.

Journal Article J Immunol · May 15, 1991 The Knops/McCoy (Kn/McC) human erythrocyte blood group system belongs to the category of blood group Ag that generate so-called "high titer low avidity" antibodies in immunized transfusion recipients. Screening of red cells lacking certain high titer low a ... Link to item Cite

Erythrocyte Webb-type glycophorin C variant lacks N-glycosylation due to an asparagine to serine substitution.

Journal Article Am J Hematol · May 1991 We have analyzed part of the sequence of the human glycophorin C (GPC) gene carried by a Webb blood-group positive donor. Our results indicate that the lack of N-glycosylation of the variant GPC associated with the Webb phenotype is due to a point mutation ... Full text Link to item Cite

Phosphatidylinositol-linked red blood cell membrane proteins and blood group antigens.

Journal Article Immunohematology · 1991 A new class of membrane proteins has recently been described. Unlike integral membrane proteins, which traverse the membrane with one or more hydrophobic peptide domains, the peptide domains of these more newly described proteins are entirely extracellular ... Link to item Cite

Relationship of the human erythrocyte Wrb antigen to an interaction between glycophorin A and band 3.

Journal Article Blood · August 15, 1990 The Wrb antigen is a high-frequency human erythrocyte antigen invariably absent from En (a-) erythrocytes, which lack glycophorin A. However, glycophorin A from En (a+) Wr (a+b-) red cells has an amino acid sequence identical to that of glycophorin A from ... Link to item Cite

Evidence that several high-frequency human blood group antigens reside on phosphatidylinositol-linked erythrocyte membrane proteins.

Journal Article Blood · April 1, 1990 Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder associated with absence of expression of phosphatidylinositol (PI)-linked membrane proteins from circulating hematopoietic cells of multiple lineages. Recent work demonstrated that decay acc ... Link to item Cite

Relationship of Inb antigen to other antigens on In(Lu)-related p80.

Journal Article Vox Sang · 1990 The Ina and Inb antigens have recently been added to the list of diverse erythrocyte blood group antigens whose expression is down-regulated by the In(Lu) gene. Evidence has been provided that these antigens constitute polymorphisms of an erythrocyte glyco ... Full text Link to item Cite

A case report: IgG autoanti-N as a cause of severe autoimmune hemolytic anemia.

Journal Article Immunohematology · 1990 A 21-year-old white worn was referred for evaluation of hemolytic anemia after a 9-day history of marked hemoglobinuria, jaundice, and weakness. The patient's hematocrit was 18%, despite at least eight transfusions over the previous week, and the reticuloc ... Link to item Cite

HIV-associated autoimmune hemolytic anemia: report of a case and review of the literature.

Journal Article J Acquir Immune Defic Syndr (1988) · 1990 While anemia and a positive direct anti-globulin test are each frequently observed in the clinical syndrome of human immunodeficiency virus (HIV) infection, autoimmune hemolytic anemia has rarely been reported in this setting. A case of severe warm autoimm ... Link to item Cite

CD44--a molecule involved in leukocyte adherence and T-cell activation.

Journal Article Immunol Today · December 1989 The study of cell surface molecules that are involved in interactions between immune and non-hematopoietic cells in various microenvironments is currently an area of great interest. One molecule that appears to be involved in multiple steps of normal immun ... Full text Link to item Cite

The Inab phenotype: characterization of the membrane protein and complement regulatory defect.

Journal Article Blood · July 1989 Recent demonstration that Cromer-related human blood group antigens reside on decay-accelerating factor (DAF) has led to identification of an apparent null phenotype (Inab) for erythrocyte DAF. This study examined expression of other phosphatidylinositol ( ... Link to item Cite

Monoclonal antibodies against the CD44 [In(Lu)-related p80], and Pgp-1 antigens in man recognize the Hermes class of lymphocyte homing receptors.

Journal Article J Immunol · March 15, 1989 An 85- to 95 kDa class of lymphocyte surface molecules, defined in man by antibodies of the Hermes series, is involved in lymphocyte binding to high endothelial venules and is likely of central importance in the process of lymphocyte homing. In this report ... Link to item Cite

Characterization of the serum In(Lu)-related antigen: identification of a serum protein related to erythrocyte p80.

Journal Article Blood · February 1989 The In(Lu) gene has been shown previously to downregulate expression by erythrocytes and by a subset of leukocytes of an 80-Kd protein antigen defined by monoclonal antibody (MoAb) A3D8. A3D8 antibody has also been shown by inhibition studies to recognize ... Link to item Cite

Identification of human erythrocyte blood group antigens on decay-accelerating factor (DAF) and an erythrocyte phenotype negative for DAF.

Journal Article J Exp Med · June 1, 1988 Decay accelerating factor (DAF) is a glycoprotein present on the surfaces of many types ofcells in contact with plasma, including erythrocytes, leukocytes, and platelets (reviewed in reference 1). A small amount of DAF is also present in serum. Numerous in ... Full text Link to item Cite

Human red cell antigens. V. Expression of In(Lu)-related p80 antigens by recessive-type Lu(a-b-) red cells.

Journal Article Transfusion · 1988 The In(Lu) gene, which inhibits the expression of Lutheran blood group antigens by red cells (RBCs), also down-regulates the expression of an 80-kD glycoprotein, In(Lu)-related p80, by both RBCs and a subset of white cells. This study examined the expressi ... Full text Link to item Cite

Further characterization of erythrocyte p80 and the membrane protein defect of In(Lu) Lu(a-b-) erythrocytes.

Journal Article Blood · November 1987 We have previously shown that the In(Lu) gene down-regulates expression of an erythrocyte protein antigen identified by murine monoclonal antibody (MoAb) A3D8. In the present study we have examined In(Lu) Lu(a-b-) erythrocytes for expression of additional ... Link to item Cite

Monoclonal antibodies to a human islet cell surface glycoprotein: 4F2 and LC7-2.

Journal Article Endocrinology · June 1987 Monoclonal antibodies 4F2 and LC7-2 react with a cell surface differentiation antigen expressed by the endocrine cells of the human pancreatic islet, but not by the acinar pancreatic, ductular, vascular, or stromal connective tissue cells. Western immunobl ... Full text Link to item Cite

Human Erythrocyte Antigens

Journal Article Vox Sanguinis · 1987 Full text Cite

Human red cell antigens. IV. The abnormal sialoglycoprotein of Gerbich-negative red cells.

Journal Article Transfusion · 1987 The minor red cell sialoglycoproteins--beta and gamma (also known as glycophorin C)--are believed to be important to the structural integrity of red cells. The absence of sialoglycoproteins alpha and delta, as seen in En(a-) and S-s-U- cells, respectively, ... Full text Link to item Cite

Human erythrocyte antigens. III. Characterization of a panel of murine monoclonal antibodies that react with human erythrocyte and erythroid precursor membranes.

Journal Article Vox Sang · 1987 Human erythrocyte membrane proteins express antigens which serve as markers for erythroid differentiation as well as targets for human blood group alloantibodies. We have produced and characterized a new panel of five monoclonal antibodies to erythrocyte m ... Full text Link to item Cite

Human medullary thymocyte p80 antigen and In(Lu)-related p80 antigen reside on the same protein.

Journal Article Hum Immunol · November 1986 Study of human T lymphocyte differentiation antigens with monoclonal antibodies has led to the identification of two antigens shared by erythrocytes and leukocytes. The protein (p80) defined by A1G3 antibody has previously been shown to be acquired during ... Full text Link to item Cite

Separation of the acetylcholinesterase-deficient red cells in paroxysmal nocturnal hemoglobinuria.

Journal Article Blood · April 1986 Blood of patients with paroxysmal nocturnal hemoglobinuria (PNH) most often contains two or more populations of erythrocytes--one population with normal sensitivity to lysis by complement (PNH I cells) and a second population of moderately abnormal cells ( ... Link to item Cite

The acetylcholinesterase defect in paroxysmal nocturnal hemoglobinuria: evidence that the enzyme is absent from the cell membrane.

Journal Article Blood · October 1985 Paroxysmal nocturnal hemoglobinuria (PNH) is a myelodysplastic disease characterized by erythrocytes that show abnormally increased sensitivity to complement-mediated lysis. Complement-sensitive PNH erythrocyte membranes have previously been shown to lack ... Link to item Cite

An antibody to human thymic Hassall's body epithelium recognizes a subset of blood group A antigens.

Journal Article J Immunogenet · February 1985 TE-19, a mouse monoclonal antibody (mAb) against thymic Hassall's body epithelium, was investigated because of its cross-reactivity with human erythrocytes. Antibody TE-19 was found to react only with group A erythrocytes, though it reacted with Hassall's ... Full text Link to item Cite

Increased efficiency of binding of nascent C3b to the erythrocytes of chronic cold agglutinin disease.

Journal Article J Clin Invest · September 1984 The pathogenesis of chronic cold agglutinin disease (CCAD) has been enigmatic. To determine if abnormal erythrocyte membrane constituents might provide the stimulus for antibody production, we compared the electrophoretic pattern of radiolabeled membrane g ... Full text Link to item Cite

Human erythrocyte antigens: II. The In(Lu) gene regulates expression of an antigen on an 80-kilodalton protein of human erythrocytes.

Journal Article Blood · September 1984 We have previously shown that a murine monoclonal antibody (A3D8) identifies a human erythrocyte protein antigen whose expression is regulated by the Lutheran inhibitor [In(Lu)] gene. In the present study, we demonstrated by immunoprecipitation and Western ... Link to item Cite

Differentiation of human T lymphocytes. I. Acquisition of a novel human cell surface protein (p80) during normal intrathymic T cell maturation.

Journal Article J Immunol · September 1983 The thymus is thought to be the primary central lymphoid organ in which T cells mature. Although thymic cortical and medullary compartments are distinct histologically, few antigens have been described that are absolutely acquired during the presumed intra ... Link to item Cite

Human erythrocyte antigens. Regulation of expression of a novel erythrocyte surface antigen by the inhibitor Lutheran In(Lu) gene.

Journal Article J Clin Invest · June 1983 Our study describes a novel human erythrocyte protein antigen, the expression of which is regulated by the rare Lutheran inhibitor In(Lu) gene. We have produced a monoclonal antibody (A3D8) that bound strongly to erythrocytes from subjects with Lutheran ph ... Full text Link to item Cite

Impact of standard ABO and Rhesus D crossmatching versus extended red blood cell antigen matching (c, E and K) of donor blood on alloimmunization in adults of reproductive age.

Conference Impact of standard ABO and Rhesus D crossmatching versus extended red blood cell antigen matching (c, E and K) of donor blood on alloimmunization in adults of reproductive age. ... Cite