Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2021.1573
Abstract: Importance Unexplained sudden cardiac death (SCD) describes SCD with no cause identified. Genetic testing helps to diagnose inherited cardiac diseases in unexplained SCD; however, the associations between pathogenic or likely pathogenic (P/LP) variants of inherited… read more here.
Keywords: unexplained sudden; death; genetic variants; sudden cardiac ... See more keywords
Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2022.1061
Abstract: Importance Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death in young people. Although rare genetic variants are well-established contributors to HCM risk, common genetic variants have recently been implicated in disease pathogenesis.… read more here.
Keywords: hypertrophic cardiomyopathy; rare common; genetic variants; hcm ... See more keywords
Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51374
Abstract: Resistance to antiseizure medications (ASMs) is one of the major concerns in the treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of individuals with drug‐resistant epilepsy remains unchanged. In this study,… read more here.
Keywords: epilepsy; role rare; genetic variants; drug resistant ... See more keywords
Genetic variants of SP‐D confer susceptibility to radiation pneumonitis in lung cancer patients undergoing thoracic radiation therapy
Sign Up to like & getrecommendations! Published in 2019 at "Cancer Medicine"
DOI: 10.1002/cam4.2088
Abstract: Surfactant protein D (SP‐D) is an innate immunity molecule in the alveoli. However, the associations between genetic variants of SP‐D and radiation pneumonitis (RP) have never been investigated. read more here.
Keywords: radiation pneumonitis; genetic variants; variants confer; cancer ... See more keywords
Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk
Sign Up to like & getrecommendations! Published in 2020 at "Cancer Medicine"
DOI: 10.1002/cam4.3603
Abstract: Because the cadherin‐mediated signaling pathway promotes cancer progression, we assessed associations between genetic variants in 109 cadherin‐related genes and risk of pancreatic cancer (PanC) by using genotyping data from publically available genome‐wide association studies (GWAS)… read more here.
Keywords: risk; associations genetic; genetic variants; pancreatic cancer ... See more keywords
Computational and Experimental Analysis of Genetic Variants.
Sign Up to like & getrecommendations! Published in 2022 at "Comprehensive Physiology"
DOI: 10.1002/cphy.c210012
Abstract: Genomics has grown exponentially over the last decade. Common variants are associated with physiological changes through statistical strategies such as Genome-Wide Association Studies (GWAS) and quantitative trail loci (QTL). Rare variants are associated with diseases… read more here.
Keywords: genetic variants; experimental analysis; computational experimental; analysis ... See more keywords
Natural T‐cell ligands that are created by genetic variants can be transferred between cells by extracellular vesicles
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Immunology"
DOI: 10.1002/eji.201747152
Abstract: CD4 T cells play a central role as helper cells in adaptive immunity. Presentation of exogenous antigens in MHC class II by professional antigen‐presenting cells is a crucial step in induction of specific CD4 T… read more here.
Keywords: extracellular vesicles; transferred cells; genetic variants; ligands created ... See more keywords
Constrained instruments and their application to Mendelian randomization with pleiotropy
Sign Up to like & getrecommendations! Published in 2019 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22184
Abstract: In Mendelian randomization (MR), inference about causal relationship between a phenotype of interest and a response or disease outcome can be obtained by constructing instrumental variables from genetic variants. However, MR inference requires three assumptions,… read more here.
Keywords: pleiotropy; mendelian randomization; genetic variants; instrumental variables ... See more keywords
Common genetic variants have associations with human cortical brain regions and risk of schizophrenia
Sign Up to like & getrecommendations! Published in 2019 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22203
Abstract: Schizophrenia is a highly heritable mental disorder and is reported to be associated with measurements in cortical regions of the human brain. In this study, we considered genome‐wide association studies to uncover genetic effects on… read more here.
Keywords: variants associations; associations human; genetic variants; common genetic ... See more keywords
Deep learning identified genetic variants for COVID‐19‐related mortality among 28,097 affected cases in UK Biobank
Sign Up to like & getrecommendations! Published in 2023 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22515
Abstract: Analysis of host genetic components provides insights into the susceptibility and response to viral infection such as severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2), which causes coronavirus disease 2019 (COVID‐19). To reveal genetic determinants of… read more here.
Keywords: genetic variants; covid; mortality; covid related ... See more keywords
An update on genetic variants of the NKX2‐5
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24030
Abstract: NKX2‐5 is a homeodomain transcription factor that plays a crucial role in heart development. It is the first gene where a single genetic variant (GV) was found to be associated with congenital heart diseases in… read more here.
Keywords: variants nkx2; gvs; genetic variants; effect ... See more keywords