171 results on '"Carey, David J."'
Search Results
2. Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes
3. Genetic risk factors for COVID-19 and influenza are largely distinct
4. Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis
5. Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis
6. Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants
7. A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts
8. Pharmacologic and Genetic Downregulation of Proprotein Convertase Subtilisin/Kexin Type 9 and Survival From Sepsis
9. Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor
10. Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification
11. Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
12. Predicting mortality among ischemic stroke patients using pathways-derived polygenic risk scores
13. Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
14. Association of varicose veins with rare protein-truncating variants in PIEZO1 identified by exome sequencing of a large clinical population
15. Role of A-kinase anchoring proteins in cyclic-AMP-mediated Schwann cell proliferation
16. Rare GPR37L1 Variants Reveal Potential Association between GPR37L1 and Disorders of Anxiety and Migraine.
17. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation
18. Genetic identification of familial hypercholesterolemia within a single U.S. health care system
19. Synergistic enhancement of efficacy of platinum drugs with verteporfin in ovarian cancer cells
20. Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
21. Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants
22. Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
23. GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network
24. Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1–Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.
25. Genetic susceptibility to cerebrovascular disease: A systematic review
26. CCL20 is up-regulated in non-alcoholic fatty liver disease fibrosis and is produced by hepatic stellate cells in response to fatty acid loading
27. Rare and low-frequency coding variants alter human adult height
28. Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci
29. Secreted Gliomedin Is a Perinodal Matrix Component of Peripheral Nerves
30. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
31. Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.
32. Localization of a Heterotrimeric G Protein γ Subunit to Focal Adhesions and Associated Stress Fibers
33. Syndecan-1 Expressed in Schwann Cells Causes Morphological Transformation and Cytoskeletal Reorganization and Associates with Actin during Cell Spreading
34. Identification of a Lipid-Anchored Heparan Sulfate Proteoglycan in Schwann Cells
35. Effects of Inhibition of Proteoglycan Synthesis on the Differentiation of Cultured Rat Schwann Cells
36. Synthesis by Schwann Cells of Basal Lamina and Membrane-Associated Heparan Sulfate Proteoglycans
37. Schwann Cell Myelination: Induction by Exogenous Basement Membrane-like Extracellular Matrix
38. Factors Influencing the Release of Proteins by Cultured Schwann Cells
39. Biosynthesis of Type IV Collagen by Cultured Rat Schwann Cells
40. Membrane Anchoring of Heparan Sulfate Proteoglycans by Phosphatidylinositol and Kinetics of Synthesis of Peripheral and Detergent-Solubilized Proteoglycans in Schwann Cells
41. Inhibition of Proteoglycan Synthesis Alters Extracellular Matrix Deposition, Proliferation, and Cytoskeletal Organization of Rat Aortic Smooth Muscle Cells in Culture
42. Molecular Cloning and Characterization of N-Syndecan, a Novel Transmembrane Heparan Sulfate Proteoglycan
43. A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes.
44. Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
45. Association of chromosome 9p21 SNPs with cardiovascular phenotypes in morbid obesity using electronic health record data
46. The sarcoglycan complex in Schwann cells and its role in myelin stability
47. Suppression of Experimental Aortic Aneurysms: Comparison of Inducible Nitric Oxide Synthase and Cyclooxygenase Inhibitors
48. TRPM2 is an ion channel that modulates hematopoietic cell death through activation of caspases and PARP cleavage
49. Simvastatin suppresses experimental aortic aneurysm expansion
50. A sequence variant associated with sortilin-1 (SORT1) on 1p13.3 is independently associated with abdominal aortic aneurysm
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