Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.09.018
Abstract: Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known… read more here.
Keywords: kidney; exome wide; case subjects; association ... See more keywords
Exome-wide screening identifies novel rare risk variants for major depression disorder
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Psychiatry"
DOI: 10.1038/s41380-022-01536-4
Abstract: Despite thousands of common genetic loci of major depression disorders (MDD) have been identified by GWAS to date, a large proportion of genetic variation predisposing to MDD remains unaccounted for. By utilizing the newly released… read more here.
Keywords: risk; rare risk; risk variants; depression ... See more keywords
An exome‐wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13803
Abstract: Primary ovarian insufficiency (POI) implies the cessation of menstruation for several months in women before the age of 40 years and is a major cause of infertility. The study of the contribution of genetic factors to… read more here.
Keywords: exome wide; wide exploration; primary ovarian; ovarian insufficiency ... See more keywords
Exome-wide association study identifies four novel loci for systemic lupus erythematosus in Han Chinese population
Sign Up to like & getrecommendations! Published in 2018 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2017-211823
Abstract: Objectives Systemic lupus erythematosus (SLE) is a chronic autoimmune disease of considerable genetic predisposition. Genome-wide association studies have identified tens of common variants for SLE. However, the majority of them reside in non-coding sequences. The… read more here.
Keywords: exome wide; systemic lupus; lupus erythematosus; han chinese ... See more keywords
Abstract 5226: Exome-wide association study identifies coding variant in IL17RA associated with survival in cancer patients treated with immunotherapy
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-5226
Abstract: Immune checkpoint inhibitors (ICI) targeting PD-1/PD-L1 and CTLA4 are effective treatments in multiple cancer types, but durable responses are seen only in a minority of patients. Resistance to ICI is likely to reflect a combination… read more here.
Keywords: il17ra; exome wide; cancer patients; patients treated ... See more keywords
Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy
Sign Up to like & getrecommendations! Published in 2017 at "PLoS ONE"
DOI: 10.1371/journal.pone.0172995
Abstract: Aims Dilated cardiomyopathy (DCM) is an important cause of heart failure with a strong familial component. We performed an exome-wide array-based association study (EWAS) to assess the contribution of missense variants to sporadic DCM. Methods… read more here.
Keywords: dcm; exome wide; association; dilated cardiomyopathy ... See more keywords
Identification of five genetic variants as novel determinants of type 2 diabetes mellitus in Japanese by exome-wide association studies
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.19287
Abstract: We performed exome-wide association studies to identify single nucleotide polymorphisms that either influence fasting plasma glucose level or blood hemoglobin A1c content or confer susceptibility to type 2 diabetes mellitus in Japanese. Exome-wide association studies… read more here.
Keywords: association studies; exome wide; type diabetes; diabetes mellitus ... See more keywords
An exome-wide study of renal operational tolerance
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.976248
Abstract: Background Renal operational tolerance is a rare and beneficial state of prolonged renal allograft function in the absence of immunosuppression. The underlying mechanisms are unknown. We hypothesized that tolerance might be driven by inherited protein… read more here.
Keywords: exome wide; operational tolerance; tolerance; medicine ... See more keywords
Exome-Wide Association Study of Competitive Performance in Elite Athletes
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14030660
Abstract: The aim of the study was to identify genetic variants associated with personal best scores in Turkish track and field athletes and to compare allelic frequencies between sprint/power and endurance athletes and controls using a… read more here.
Keywords: sprint power; exome wide; endurance; endurance athletes ... See more keywords
Exome-Wide Association Study Reveals Host Genetic Variants Likely Associated with the Severity of COVID-19 in Patients of European Ancestry
Sign Up to like & getrecommendations! Published in 2022 at "Life"
DOI: 10.3390/life12091300
Abstract: Host genetic variability plays a pivotal role in modulating COVID-19 clinical outcomes. Despite the functional relevance of protein-coding regions, rare variants located here are less likely to completely explain the considerable numbers of acutely affected… read more here.
Keywords: exome wide; covid patients; wide association; severity ... See more keywords