Sequence Deletion

• 

  Subject Areas on Research

  • A PCR-based strategy to generate integrative targeting alleles with large regions of homology. 
  • A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. 
  • A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. 
  • A common functional PIEZO1 deletion allele associates with red blood cell density in sickle cell disease patients. 
  • A deletion-generator compound element allows deletion saturation analysis for genomewide phenotypic annotation. 
  • A fast neutron deletion mutagenesis-based reverse genetics system for plants 
  • A functional variant at miRNA-122 binding site in IL-1a 3' UTR predicts risk of recurrence in patients with oropharyngeal cancer. 
  • A germ-line deletion of APOBEC3B does not contribute to subtype-specific childhood acute lymphoblastic leukemia etiology. 
  • A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein. 
  • A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice. 
  • A new class of temporarily phenotypic enhancers identified by CRISPR/Cas9-mediated genetic screening. 
  • A novel BIM deletion polymorphism: implications and lessons for cancer targeted therapies. 
  • A novel domain in Set2 mediates RNA polymerase II interaction and couples histone H3 K36 methylation with transcript elongation. 
  • A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. 
  • A rationally-designed chimeric KDM1A/KDM1B histone demethylase tower domain deletion mutant retaining enzymatic activity. 
  • A regulatory variant of the human tryptophan hydroxylase-2 gene biases amygdala reactivity. 
  • A role for AQP5 in activation of TRPV4 by hypotonicity: concerted involvement of AQP5 and TRPV4 in regulation of cell volume recovery. 
  • A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. 
  • A spontaneous deletion within the desmoglein 3 extracellular domain of mice results in hypomorphic protein expression, immunodeficiency, and a wasting disease phenotype. 
  • A thioesterase bypasses the requirement for exogenous fatty acids in the plsX deletion of Streptococcus pneumoniae. 
  • ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype. 
  • Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers. 
  • Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism. 
  • Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect. 
  • An evaluation of copy number variation detection tools from whole-exome sequencing data. 
  • An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. 
  • An integrated map of genetic variation from 1,092 human genomes. 
  • An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression. 
  • An intron facilitates activation of the calspermin gene by the testis-specific transcription factor CREM tau. 
  • Analysis of recombinant Phex: an endopeptidase in search of a substrate. 
  • Another surprise from the mitochondrial genome. 
  • Antigenicity and immunogenicity of RV144 vaccine AIDSVAX clade E envelope immunogen is enhanced by a gp120 N-terminal deletion. 
  • Aspergillus fumigatus calcipressin CbpA is involved in hyphal growth and calcium homeostasis. 
  • Association of the CCR5 gene with juvenile idiopathic arthritis. 
  • Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. 
  • BIM deletion polymorphism profiling complements prognostic values of risk scores in imatinib-treated Asian chronic myeloid leukemia patients. 
  • BRCA2 mutations in primary breast and ovarian cancers. 
  • Biological and biochemical consequences of global deletion of exon 3 from the ER alpha gene. 
  • C-terminal deletion of the atrophin-1 protein results in growth retardation but not neurodegeneration in mice. 
  • C-terminal regions of the human telomerase catalytic subunit essential for in vivo enzyme activity. 
  • CCR5del32 in perinatal HIV-1 infection. 
  • Calcineurin controls growth, morphology, and pathogenicity in Aspergillus fumigatus. 
  • Characterization of an acquired inhibitor to coagulation factor V. Antibody binding to the second C-type domain of factor V inhibits the binding of factor V to phosphatidylserine and neutralizes procoagulant activity. 
  • Characterization of cis-regulatory regions responsible for developmental regulation of the gibberellin biosynthetic gene GA1 in Arabidopsis thaliana 
  • Characterization of long G4-rich enhancer-associated genomic regions engaging in a novel loop:loop 'G4 Kissing' interaction. 
  • Characterization of the G protein-coupled receptor kinase GRK4. Identification of four splice variants. 
  • Characterization of transcriptional activation and DNA-binding functions in the hinge region of the vitamin D receptor. 
  • Clinical Significance of PTEN Deletion, Mutation, and Loss of PTEN Expression in De Novo Diffuse Large B-Cell Lymphoma. 
  • Cloning and characterization of two yeast genes encoding members of the CCCH class of zinc finger proteins: zinc finger-mediated impairment of cell growth. 
  • Comparative Immunogenicity of Evolved V1V2-Deleted HIV-1 Envelope Glycoprotein Trimers. 
  • Complex relationship between Parkin mutations and Parkinson disease. 
  • Comprehensive Molecular and Pathologic Evaluation of Transitional Mesothelioma Assisted by Deep Learning Approach: A Multi-Institutional Study of the International Mesothelioma Panel from the MESOPATH Reference Center. 
  • Control of the differentiation of regulatory T cells and T(H)17 cells by the DNA-binding inhibitor Id3. 
  • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 
  • Correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genomic excision of exon 51 by zinc finger nucleases. 
  • Correlation of doxorubicin footprints with deletion endpoints in lacO of E. coli. 
  • Critical factors in basal cell adhesion molecule/lutheran-mediated adhesion to laminin. 
  • Cryptic phosphorylation in nucleoside natural product biosynthesis. 
  • DNA-PK facilitates piggyBac transposition by promoting paired-end complex formation. 
  • Deencryption of cellular tissue factor is independent of its cytoplasmic domain. 
  • Deletion and site-directed mutagenesis of the ATP-binding motif (P-loop) in the bifunctional murine ATP-sulfurylase/adenosine 5'-phosphosulfate kinase enzyme. 
  • Deletion of Atm in Tumor but not Endothelial Cells Improves Radiation Response in a Primary Mouse Model of Lung Adenocarcinoma. 
  • Deletion of Melanin Concentrating Hormone Receptor-1 disrupts overeating in the presence of food cues. 
  • Deletion of a conserved cis-element in the Ifng locus highlights the role of acute histone acetylation in modulating inducible gene transcription. 
  • Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. 
  • Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. 
  • Deletion of the Tail Domain of the Kinesin-5 Cin8 Affects Its Directionality. 
  • Deletion of the carboxyl terminus of Tie2 enhances kinase activity, signaling, and function. Evidence for an autoinhibitory mechanism. 
  • Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration. 
  • Deletions associated with stabilization of the Top1 cleavage complex in yeast are products of the nonhomologous end-joining pathway. 
  • Destabilization of yeast micro- and minisatellite DNA sequences by mutations affecting a nuclease involved in Okazaki fragment processing (rad27) and DNA polymerase delta (pol3-t). 
  • Detecting colorectal cancer in stool with the use of multiple genetic targets. 
  • Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. 
  • Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. 
  • Differential CD4/CCR5 utilization, gp120 conformation, and neutralization sensitivity between envelopes from a microglia-adapted human immunodeficiency virus type 1 and its parental isolate. 
  • Differential expression of intracellular and secreted osteopontin isoforms by murine macrophages in response to toll-like receptor agonists. 
  • Dilated cardiomyopathy in transgenic mice expressing a mutant A subunit of protein phosphatase 2A. 
  • Direct cloning of DNA sequences from the common fragile site region at chromosome band 3p14.2. 
  • Dominant-negative mutants of Grb2 induced reversal of the transformed phenotypes caused by the point mutation-activated rat HER-2/Neu. 
  • Downregulation of microglial activation by apolipoprotein E and apoE-mimetic peptides. 
  • Drosophila TFIID binds to a conserved downstream basal promoter element that is present in many TATA-box-deficient promoters. 
  • E2A and HEB are required to block thymocyte proliferation prior to pre-TCR expression. 
  • EF1A1-actin interactions alter mRNA stability to determine differential osteopontin expression in HepG2 and Hep3B cells. 
  • EGFR and EGFRvIII interact with PUMA to inhibit mitochondrial translocalization of PUMA and PUMA-mediated apoptosis independent of EGFR kinase activity. 
  • Effect of CD8+ lymphocyte depletion on virus containment after simian immunodeficiency virus SIVmac251 challenge of live attenuated SIVmac239delta3-vaccinated rhesus macaques. 
  • Effect of isopropyl-beta-D-thiogalactopyranosid induction of the lac operon on the specificity of spontaneous and doxorubicin-induced mutations in Escherichia coli. 
  • Effects of mutant Ran/TC4 proteins on cell cycle progression. 
  • Elite Control, Gut CD4 T Cell Sparing, and Enhanced Mucosal T Cell Responses in Macaca nemestrina Infected by a Simian Immunodeficiency Virus Lacking a gp41 Trafficking Motif. 
  • Epidermal growth factor ligand-independent, unregulated, cell-transforming potential of a naturally occurring human mutant EGFRvIII gene. 
  • Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. 
  • Erythrocyte invasion profiles are associated with a common invasion ligand polymorphism in Senegalese isolates of Plasmodium falciparum. 
  • Erythropoietin structure-function relationships. Mutant proteins that test a model of tertiary structure. 
  • Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. 
  • Expanded analysis of high-grade astrocytoma with piloid features identifies an epigenetically and clinically distinct subtype associated with neurofibromatosis type 1. 
  • Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. 
  • Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. 
  • Extended ORF8 Gene Region Is Valuable in the Epidemiological Investigation of Severe Acute Respiratory Syndrome-Similar Coronavirus. 
  • Extended evaluation of a phase 1/2 trial on dosing, safety, immunogenicity, and overall survival after immunizations with an advanced-generation Ad5 [E1-, E2b-]-CEA(6D) vaccine in late-stage colorectal cancer. 
  • FHIT and FRA3B 3p14.2 allele loss are common in lung cancer and preneoplastic bronchial lesions and are associated with cancer-related FHIT cDNA splicing aberrations. 
  • Facilitative glucose transporter Glut1 is actively excluded from rod outer segments. 
  • Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. 
  • Familial polycythemia due to truncations of the erythropoietin receptor. 
  • Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. 
  • Fission yeast Cyk3p is a transglutaminase-like protein that participates in cytokinesis and cell morphogenesis. 
  • Frameshift intermediates in homopolymer runs are removed efficiently by yeast mismatch repair proteins. 
  • Frameshifts and deletions during in vitro translesion synthesis past Pt-DNA adducts by DNA polymerases beta and eta. 
  • Function of the hydrophilic carboxyl terminus of type II DNA topoisomerase from Drosophila melanogaster. I. In vitro studies. 
  • Functional analysis of the transforming growth factor beta responsive elements in the WAF1/Cip1/p21 promoter. 
  • Functional characterization of a unique liver gene promoter. 
  • GC content elevates mutation and recombination rates in the yeast Saccharomyces cerevisiae. 
  • Gene disruption with PCR products in Saccharomyces cerevisiae. 
  • Genes required for survival in microgravity revealed by genome-wide yeast deletion collections cultured during spaceflight. 
  • Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene. 
  • Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. 
  • Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. 
  • Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 
  • Hematopoietic cell transplantation with cord blood for cure of HIV infections. 
  • Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 
  • Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. 
  • Histone Deacetylase 3 Inhibition Overcomes BIM Deletion Polymorphism-Mediated Osimertinib Resistance in EGFR-Mutant Lung Cancer. 
  • Homer: a protein that selectively binds metabotropic glutamate receptors. 
  • Human smooth muscle alpha-actin gene is a transcriptional target of the p53 tumor suppressor protein. 
  • Human substance P receptor lacking the C-terminal domain remains competent to desensitize and internalize. 
  • Hydrophobic residues Phe751 and Leu753 are essential for STAT5 transcriptional activity. 
  • Hypoglossal neuropathy in hereditary neuropathy with liability to pressure palsy. 
  • Identification of Undetected Monogenic Cardiovascular Disorders. 
  • Identification of a distinctive mutation spectrum associated with high levels of transcription in yeast. 
  • Identification of a naturally occurring 21 bp deletion in alpha 2c noradrenergic receptor gene and cognitive correlates to antipsychotic treatment. 
  • Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome. 
  • Identification of amino acid residues involved in structural and ubiquinone-binding functions of subunit IV of the cytochrome bc1 complex from Rhodobacter sphaeroides. 
  • Identification of human short introns. 
  • Identification of the TBX5 transactivating domain and the nuclear localization signal. 
  • Identification of the breast cancer susceptibility gene BRCA2. 
  • Identification of the sequences within the human complement 3 promoter required for estrogen responsiveness provides insight into the mechanism of tamoxifen mixed agonist activity. 
  • Identifying Genetic Players in Cell Sheet Morphogenesis Using a Drosophila Deficiency Screen for Genes on Chromosome 2R Involved in Dorsal Closure. 
  • Identifying sequence similarities between DNA molecules. 
  • Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome. 
  • Immune responses of breast cancer patients to mutated epidermal growth factor receptor (EGF-RvIII, Delta EGF-R, and de2-7 EGF-R). 
  • Immunogenicity of DNA vaccines expressing human immunodeficiency virus type 1 envelope glycoprotein with and without deletions in the V1/2 and V3 regions. 
  • Immunotoxins that target an oncogenic mutant epidermal growth factor receptor expressed in human tumors. 
  • Implications for proteasome nuclear localization revealed by the structure of the nuclear proteasome tether protein Cut8. 
  • Importance of the Conserved Carboxyl-Terminal CNOT1 Binding Domain to Tristetraprolin Activity In Vivo. 
  • Importance of the intracellular domain of NR2 subunits for NMDA receptor function in vivo. 
  • In vitro RNA selection of an autoimmune epitope on stem-loop II of U1 RNA. 
  • In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy. 
  • In vivo mutagenesis of the reporter plasmid pSP189 induced by exposure of host Ad293 cells to activated polymorphonuclear leukocytes. 
  • Increased transversions in a novel mutator colon cancer cell line. 
  • Induction of HIV Neutralizing Antibody Lineages in Mice with Diverse Precursor Repertoires. 
  • Induction of cyclooxygenase-2 in human endometrial stromal cells by malignant endometrial epithelial cells: evidence for the involvement of extracellularly regulated kinases and CCAAT/enhancer binding proteins. 
  • Induction of nuclear factor kappaB by the CD30 receptor is mediated by TRAF1 and TRAF2. 
  • Instability of a plasmid-borne inverted repeat in Saccharomyces cerevisiae. 
  • Intracellular pH regulation by Na(+)/H(+) exchange requires phosphatidylinositol 4,5-bisphosphate. 
  • Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. 
  • Intrinsic activity of human immunodeficiency virus type 1 protease heterologous fusion proteins in mammalian cells. 
  • Iron in skin of mice with three etiologies of systemic iron overload. 
  • Isolation and characterization of human casein kinase I epsilon (CKI), a novel member of the CKI gene family. 
  • Isolation and characterization of the CYP71D16 trichome-specific promoter from Nicotiana tabacum L. 
  • Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. 
  • Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. 
  • Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. 
  • LAMP2 microdeletions in patients with Danon disease. 
  • LFA-1 binding site in ICAM-3 contains a conserved motif and non-contiguous amino acids. 
  • Ligand-induced recruitment of a histone deacetylase in the negative-feedback regulation of the thyrotropin beta gene. 
  • Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. 
  • Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. 
  • Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration. 
  • Loss of PRDM1/BLIMP-1 function contributes to poor prognosis of activated B-cell-like diffuse large B-cell lymphoma. 
  • Loss of chromosome 8p sequences in human breast carcinoma cell lines. 
  • Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41. 
  • Merlin facilitates ubiquitination and degradation of transactivation-responsive RNA-binding protein. 
  • Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. 
  • Minimal and inducible regulation of tissue factor pathway inhibitor-2 in human gliomas. 
  • Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome. 
  • Mucor circinelloides: Growth, Maintenance, and Genetic Manipulation. 
  • Multiple effects of KPQ deletion mutation on gating of human cardiac Na+channels expressed in mammalian cells. 
  • Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. 
  • Multiple structural elements define the specificity of recombinant human inhibitor-1 as a protein phosphatase-1 inhibitor. 
  • Mutagenic analysis of functional domains of the mos proto-oncogene and identification of the sites important for MAPK activation and DNA binding. 
  • Mutagenic processing of ribonucleotides in DNA by yeast topoisomerase I. 
  • Mutant and wild-type androgen receptors exhibit cross-talk on androgen-, glucocorticoid-, and progesterone-mediated transcription. 
  • Mutants of the Drosophila ncd microtubule motor protein cause centrosomal and spindle pole defects in mitosis. 
  • Mutation analysis of the TSC2 gene in an African-American family. 
  • Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 
  • Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. 
  • Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. 
  • Mutations in the MSH3 gene preferentially lead to deletions within tracts of simple repetitive DNA in Saccharomyces cerevisiae. 
  • NMR assignment of the SRI domain of human Set2/HYPB. 
  • Negative regulation of Armadillo, a Wingless effector in Drosophila. 
  • Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. 
  • Nutrient availability shapes methionine metabolism in p16/MTAP-deleted cells. 
  • Off-response property of an acid-activated cation channel complex PKD1L3-PKD2L1. 
  • Oncogenic activation of c-ABL by mutation within its last exon. 
  • Organization and evolution of a gene-rich region of the mouse genome: a 12.7-Mb region deleted in the Del(13)Svea36H mouse. 
  • Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. 
  • Outcomes of front-line ibrutinib treated CLL patients excluded from landmark clinical trial. 
  • Oxygen affinity and amino acid sequence of myoglobins from endothermic and ectothermic fish. 
  • PKC1 is essential for protection against both oxidative and nitrosative stresses, cell integrity, and normal manifestation of virulence factors in the pathogenic fungus Cryptococcus neoformans. 
  • PTEN gene mutations are seen in high-grade but not in low-grade gliomas. 
  • Parallel analysis of ribonucleotide-dependent deletions produced by yeast Top1 in vitro and in vivo. 
  • Parallel molecular evolution of deletions and nonsense mutations in bacteriophage T7. 
  • Parkin-proven disease: common founders but divergent phenotypes. 
  • Pelger-Huët anomaly in a child with 1q42.3-44 deletion. 
  • Phase I study of vorinostat with gefitinib in BIM deletion polymorphism/epidermal growth factor receptor mutation double-positive lung cancer. 
  • Plasmids for expression of chimeric and truncated kinesin proteins. 
  • Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development. 
  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. 
  • Polymorphic TP53BP1 and TP53 gene interactions associated with risk of squamous cell carcinoma of the head and neck. 
  • Polymorphism of angiotensin converting enzyme gene is associated with circulating levels of plasminogen activator inhibitor-1. 
  • Polymorphisms in the MDM2 promoter and risk of breast cancer: a case-control analysis in a Chinese population. 
  • Polymorphisms in thymidylate synthase gene and susceptibility to breast cancer in a Chinese population: a case-control analysis. 
  • Polymorphisms of thymidylate synthase in the 5'- and 3'-untranslated regions associated with risk of gastric cancer in South China: a case-control analysis. 
  • Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. 
  • Positive feedback of G1 cyclins ensures coherent cell cycle entry. 
  • Presence of large deletions in kindreds with autism. 
  • Properties of secretin receptor internalization differ from those of the beta(2)-adrenergic receptor. 
  • Protein kinase A and G protein-coupled receptor kinase phosphorylation mediates beta-1 adrenergic receptor endocytosis through different pathways. 
  • Pseudomonas syringae Effector Avirulence Protein E Localizes to the Host Plasma Membrane and Down-Regulates the Expression of the NONRACE-SPECIFIC DISEASE RESISTANCE1/HARPIN-INDUCED1-LIKE13 Gene Required for Antibacterial Immunity in Arabidopsis. 
  • RB regulates transcription of the p21/WAF1/CIP1 gene. 
  • RNA subunit of mitochondrial RNA-processing enzyme is induced by contractile activity in striated muscle. 
  • RNPS1 inhibits excessive tumor necrosis factor/tumor necrosis factor receptor signaling to support hematopoiesis in mice. 
  • Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. 
  • Ras induces p21Cip1/Waf1 cyclin kinase inhibitor transcriptionally through Sp1-binding sites. 
  • Recombination hotspots flank the Cryptococcus mating-type locus: implications for the evolution of a fungal sex chromosome. 
  • Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers. 
  • Reduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutants. 
  • Regulation of T cell receptor alpha gene assembly by a complex hierarchy of germline Jalpha promoters. 
  • Regulation of T cell receptor-alpha gene recombination by transcription. 
  • Regulation of intrasteric inhibition of the multifunctional calcium/calmodulin-dependent protein kinase. 
  • Regulation of the uncoupling protein-2 gene in INS-1 beta-cells by oleic acid. 
  • Regulatory Mechanism of the Atypical AP-1-Like Transcription Factor Yap1 in Cryptococcus neoformans. 
  • Removal of the pro-domain does not affect the conformation of the procaspase-3 dimer. 
  • Repair of large insertion/deletion heterologies in human nuclear extracts is directed by a 5' single-strand break and is independent of the mismatch repair system. 
  • Reply to Corbeil et al.: Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration. 
  • Reply: the BIM deletion polymorphism cannot account for intrinsic TKI resistance of Chinese individuals with chronic myeloid leukemia. 
  • Residues within a conserved amino acid motif of domains 1 and 4 of VCAM-1 are required for binding to VLA-4. 
  • Retinoid-related orphan receptor gamma (RORgamma) is essential for lymphoid organogenesis and controls apoptosis during thymopoiesis. 
  • Role of the amino terminal RHAU-specific motif in the recognition and resolution of guanine quadruplex-RNA by the DEAH-box RNA helicase RHAU. 
  • S-nitrosylation of heterogeneous nuclear ribonucleoprotein A/B regulates osteopontin transcription in endotoxin-stimulated murine macrophages. 
  • SETD2 Haploinsufficiency Enhances Germinal Center-Associated AICDA Somatic Hypermutation to Drive B-cell Lymphomagenesis. 
  • Selective LXXLL peptides antagonize transcriptional activation by the retinoid-related orphan receptor RORgamma. 
  • Sequence-independent method for in vitro generation of nested deletions for sequencing large DNA fragments. 
  • Sequences within the coding regions of clotting factor VIII and CFTR block transcriptional elongation. 
  • Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online. 
  • Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. 
  • Sites of interaction between kinase-related protein and smooth muscle myosin. 
  • Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. 
  • Snare protein expression and adenoviral transfection of amphicrine AR42J. 
  • Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. 
  • Somatic mutations in VHL germline deletion kindred correlate with mild phenotype. 
  • Sp1, but not Sp3, functions to mediate promoter activation by TGF-beta through canonical Sp1 binding sites. 
  • Spectrum of mutation and frequency of allelic deletion of the p53 gene in ovarian cancer. 
  • Stabilization of microsatellite sequences by variant repeats in the yeast Saccharomyces cerevisiae. 
  • Structure and function of the UvrB protein. 
  • Subunit IV of cytochrome bc1 complex from Rhodobacter sphaeroides. Localization of regions essential for interaction with the three-subunit core complex. 
  • Sustained expression of human factor VIII in mice using a parvovirus-based vector. 
  • Systematic analysis of F-box proteins reveals a new branch of the yeast mating pathway. 
  • Targeted deletion of 5'HS2 of the murine beta-globin LCR reveals that it is not essential for proper regulation of the beta-globin locus. 
  • Targeted disruption of the mouse NHERF-1 gene promotes internalization of proximal tubule sodium-phosphate cotransporter type IIa and renal phosphate wasting. 
  • The 2021 WHO Classification of Tumors of the Pleura: Advances Since the 2015 Classification. 
  • The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. 
  • The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. 
  • The CD19 signal transduction complex of B lymphocytes. Deletion of the CD19 cytoplasmic domain alters signal transduction but not complex formation with TAPA-1 and Leu 13. 
  • The ErbB2ΔEx16 splice variant is a major oncogenic driver in breast cancer that promotes a pro-metastatic tumor microenvironment. 
  • The Glycan Hole Area of HIV-1 Envelope Trimers Contributes Prominently to the Induction of Autologous Neutralization. 
  • The amino-terminal domain of heat shock protein 90 (hsp90) that binds geldanamycin is an ATP/ADP switch domain that regulates hsp90 conformation. 
  • The binding site for the beta gamma subunits of heterotrimeric G proteins on the beta-adrenergic receptor kinase. 
  • The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment. 
  • The conserved bromo-adjacent homology domain of yeast Orc1 functions in the selection of DNA replication origins within chromatin. 
  • The crystal structure of the TetR family transcriptional repressor SimR bound to DNA and the role of a flexible N-terminal extension in minor groove binding. 
  • The dCMP transferase activity of yeast Rev1 is biologically relevant during the bypass of endogenously generated AP sites. 
  • The dishevelled protein is modified by wingless signaling in Drosophila. 
  • The exon A (C77G) mutation is a common cause of abnormal CD45 splicing in humans. 
  • The extra fragment of the iron-sulfur protein (residues 96-107) of Rhodobacter sphaeroides cytochrome bc1 complex is required for protein stability. 
  • The genetic landscape of gliomas arising after therapeutic radiation. 
  • The glucocorticoid receptor interacting protein 1 (GRIP1) localizes in discrete nuclear foci that associate with ND10 bodies and are enriched in components of the 26S proteasome. 
  • The importance of Src homology 2 domain-containing leukocyte phosphoprotein of 76 kilodaltons sterile-alpha motif domain in thymic selection and T-cell activation. 
  • The influence of large deletions on the mutation frequency induced by tritiated water and X-radiation in male Drosophila melanogaster post-meiotic germ cells. 
  • The membrane-binding domain of ankyrin contains four independently folded subdomains, each comprised of six ankyrin repeats. 
  • The mouse lethal nonagouti (a(x)) mutation deletes the S-adenosylhomocysteine hydrolase (Ahcy) gene. 
  • The nuclear corepressors NCoR and SMRT are key regulators of both ligand- and 8-bromo-cyclic AMP-dependent transcriptional activity of the human progesterone receptor. 
  • The rate of mitochondrial mutagenesis is faster in mice than humans. 
  • The release of Alzheimer's disease beta amyloid peptide is reduced by phorbol treatment. 
  • The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck. 
  • The structure of a calmodulin mutant with a deletion in the central helix: implications for molecular recognition and protein binding. 
  • The tail domain of the Aspergillus fumigatus class V myosin MyoE orchestrates septal localization and hyphal growth. 
  • Titin truncations lead to impaired cardiomyocyte autophagy and mitochondrial function in vivo. 
  • Topoisomerase 1-dependent deletions initiated by incision at ribonucleotides are biased to the non-transcribed strand of a highly activated reporter. 
  • Topoisomerase I and Genome Stability: The Good and the Bad. 
  • Total Synthesis of a Functional Designer Eukaryotic Chromosome 
  • Transancestral mapping and genetic load in systemic lupus erythematosus. 
  • Transcription factors are required for the meiotic recombination hotspot at the HIS4 locus in Saccharomyces cerevisiae. 
  • Two distinct mechanisms of Topoisomerase 1-dependent mutagenesis in yeast. 
  • Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. 
  • Unselected mutations in the human immunodeficiency virus type 1 genome are mostly nonsynonymous and often deleterious. 
  • Wolman Disease: A Mimic of Infant Leukemia. 
  • Y chromosome gr/gr deletions are a risk factor for low semen quality. 
  • cis element/transcription factor analysis (cis/TF): a method for discovering transcription factor/cis element relationships. 
  • hSnm1B is a novel telomere-associated protein. 
• 

  Keywords of People

  • Bennett, Vann, George Barth Geller Distinguished Professor of Molecular Biology, Duke Cancer Institute
  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Krangel, Michael S., George Barth Geller Distinguished Professor of Immunology, Integrative Immunobiology
  • McDonnell, Donald Patrick, Glaxo-Wellcome Distinguished Professor of Molecular Cancer Biology, in the School of Medicine, Cell Biology
  • Starmer, Charles Franklin, Professor Emeritus of Computer Science, Computer Science
  • Taylor, Gregory Alan, Professor in Medicine, Integrative Immunobiology