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Allison Elizabeth Ashley-Koch

Professor in Medicine
Medicine, Nephrology
Duke Box 104775, Durham, NC 27701
300 N Duke St., Durham, NC 27701

Scholarly Works - Conferences


Sickle cell disease is associated with early-onset clonal hematopoiesis involving DNA damage response pathway mutations

Conference Blood · November 3, 2025 AbstractBackground: Individuals with sickle cell disease (SCD) face an elevated risk of myeloid leukemias. Recently, myelodysplastic syndro ... Full text Cite

Nontargeted Plasma Proteomic Analysis in Sickle Cell Disease Implicates Pathways Involving Cell Structure, Immunity and Heme and Oxygen Transport in the Occurrence of Leg Ulcers

Conference Blood · November 5, 2024 Background: Leg ulcers are a recurrent and debilitating complication of sickle cell disease (SCD), significantly impacting quality of life (QOL) and decreasing survival. The pathogenesis ... Full text Cite

Electronic Heath Record Phenotypes to Classify Sickle Cell Anemia Versus Other Subtypes of Sickle Cell Disease

Conference Blood · November 5, 2024 Introduction: Sickle cell disease (SCD) comprises a group of severe hemoglobinopathies caused by mutations in the β-globin gene (HBB) and includes sickle cell anemia (homozygous SCD, HbSS ... Full text Cite

Evaluation of the Role of PIEZO1 Genetic Variants in Red Blood Cell Health in Sickle Cell Disease

Conference Blood · November 5, 2024 BackgroundSickle cell disease (SCD) is a disorder arising from genetic variation in β-globin. Homozygosity for the sickle variant (HbSS) most commonly ... Full text Cite

Novel Loci Associated with Acute Chest Syndrome in Sickle Cell Disease Patients

Conference Blood · November 5, 2024 Sickle cell disease (SCD) results from a genetic mutation in the beta hemoglobin gene. Despite the same underlying causal mutation, patients exhibit highly heterogeneous clinical outcomes ... Full text Cite

A Phase 2 Prospective Randomized Trial of Topical Sodium Nitrite in Patients with Sickle Cell Disease and Leg Ulcers

Conference Blood · November 5, 2024 Background: Leg ulcers are a recurrent, painful and severe complication of sickle cell disease (SCD). Their occurrence significantly affects quality of life and is associated with decreas ... Full text Cite

Associations between Epigenetic Age Acceleration and Psychoneurological Symptoms in Sickle Cell Disease

Conference Blood · November 2, 2023 Introduction:Sickle cell disease (SCD) affects approximately 100,000 predominantly Black or African American individuals in the United States. The disease has several acute and chronic c ... Full text Cite

PROGRESS AND PROMISE OF NEUROGENETICS METHODS TO STUDY PTSD

Conference European Neuropsychopharmacology · October 2023 Full text 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

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

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

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

Mouse Genomic Loci Modulating Corneal Thickness

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2015 Link to item Cite

GENOMIC LOCI MODULATING GANGLION CELL DEATH FOLLOWING ELEVATED IOP IN THE MOUSE

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2015 Link to item Cite

A GENE REGULATORY NETWORK SHARED BETWEEN NEURULATION AND OROFACIAL DEVELOPMENT

Conference JOURNAL OF INVESTIGATIVE MEDICINE · April 1, 2015 Link to item Cite

Copy Number Variants associated with Glaucoma in the NEIGHBOR Study

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2014 Link to item Cite

Rare Genetic Variants are Associated with POAG in Populations of African Ancestry

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2014 Link to item 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

Rare Genetic Variants in African Americans with Primary Open Angle Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2013 Link to item Cite

The Role of Protein-Coding Variants in South Africans with Exfoliation Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2013 Link to item Cite

The role of SIX6 in primary open-angle glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2013 Link to item Cite

Epigenetic Regulation of Gene Expression in NAFLD

Conference GASTROENTEROLOGY · May 1, 2012 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

743: Genetic variation in G-protein coupled receptor kinase-5 and preeclampsia

Conference American Journal of Obstetrics and Gynecology · December 2009 Full text 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

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

Genetic associations with reaction time variability in AD/HD

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · October 5, 2006 Link to item Cite

Polymorphisms in DRD2 are associated with AD/HD

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · October 5, 2006 Link to item Cite

Trichotillomania is associated with mutations in SLITRK1

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · October 5, 2006 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

Mutation screening and SNP analysis of GABRB3 in a subset of autistic individuals

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · September 15, 2004 Link to item Cite

The genetics of AD/HD: Subtyping, comorbidity and developmental considerations

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · September 15, 2004 Link to item Cite

Evidence for gene-gene interactions influencing susceptibility to autistic disorder

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · September 15, 2004 Link to item Cite

A genomic screen for a novel essential tremor locus

Conference MOVEMENT DISORDERS · January 1, 2004 Link to item Cite

A genomic screen of essential tremor.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · November 1, 2003 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

A Genomic screen reveals evidence for novel SPG loci.

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

A kinesin heavy chain (KIF5A) mutation in Hereditary Spastic Paraplegia (SPG10).

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2002 Link to item Cite

Examination of dementia of the Alzheimer type in the Amish

Conference NEUROBIOLOGY OF AGING · July 1, 2002 Link to item Cite

A genomic screen for dementia in an extended Amish family.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

Isolation and analysis of Autism candidate genes on 7q.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

CpG island and gene mapping in the Austistic Disorder region on chromosome 15q11-13.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

Evidence for a paternal effect on chromosome 7 in Autistic Disorder.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 1999 Link to item Cite

Autistic disorder and chromosome 7: Evidence for a paternal effect.

Conference MOLECULAR PSYCHIATRY · September 1, 1999 Link to item Cite