Loss-of-function variants, non-alcoholic steatohepatitis and adverse liver outcomes: Results from a multi-ethnic Asian cohort [PDF]
Clinical and Molecular Hepatology, 2021 Background/Aims 17β-hydroxysteroid dehydrogenase 13 (HSD17B13) variants were recently reported to have significantly lower odds of non-alcoholic fatty liver disease (NAFLD).
Yi-Wen Ting +7 more
doaj +1 more source
Genetic Polymorphism of 16 X-STR Loci in Xinjiang Uygur Population
Fayixue Zazhi, 2022 ObjectiveTo study the genetic polymorphism and population genetic parameters of 16 X-STR loci in Xinjiang Uygur population.MethodsThe Goldeneye® DNA identification system 17X was used to amplify 16 X-STR loci in 502 unrelated individuals （251 females and
YUAN Chun-yan +10 more
doaj +1 more source
Alimentary Pharmacology and Therapeutics, 2020 Single nucleotide polymorphism–based genetic risk scores (GRS) model genetic risk as a continuum and can discriminate coeliac disease but have not been validated in clinic. Human leukocyte antigen (HLA) DQ gene testing is available in clinic but does not
S. Sharp +12 more
semanticscholar +1 more source
New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis
BMC Medicine, 2020 Coronavirus Disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has now been confirmed worldwide. Yet, COVID-19 is strangely and tragically selective.
Y. Hou +9 more
semanticscholar +1 more source
Genome-wide association study of mitochondrial DNA in Chinese men identifies seven new susceptibility loci for high-altitude pulmonary oedema [PDF]
Vojnosanitetski Pregled, 2021 Background/Aim. High-altitude pulmonary oedema (HAPE), which normally occurs at altitudes higher than 3,000 m, is a potentially fatal disease due to hypoxia.
Tang Caizhi +4 more
doaj +1 more source
DnaSP 6: DNA Sequence Polymorphism Analysis of Large Data Sets.
Molecular biology and evolution, 2017 We present version 6 of the DNA Sequence Polymorphism (DnaSP) software, a new version of the popular tool for performing exhaustive population genetic analyses on multiple sequence alignments.
J. Rozas +6 more
semanticscholar +1 more source
The rs2304256 Polymorphism in Gene Is Associated with Protection for Type 1 Diabetes Mellitus [PDF]
Diabetes & Metabolism Journal, 2021 Background Tyrosine kinase 2 (TYK2) is a candidate gene for type 1 diabetes mellitus (T1DM) since it plays an important role in regulating apoptotic and pro-inflammatory pathways in pancreatic β-cells through modulation of the type I interferon signaling
Felipe Mateus Pellenz +5 more
doaj +1 more source
Biomédica: revista del Instituto Nacional de Salud, 2007 Introducción. La artritis reumatoide es una enfermedad inflamatoria con un predominio de la actividad de las células TH1 CD4+. La interleucina-10, presente en altas concentraciones en suero y líquido sinovial de pacientes con artritis reumatoide, tiene ...
Olga María Moreno +6 more
doaj +1 more source
Genetic Polymorphisms in COL1A2 gene and the Risk of Tendinopathy: Case-Control Study [PDF]
Revista Brasileira de Ortopedia, 2023 Objective To evaluate the influence of polymorphisms on genes encoding type I collagen and the genetic susceptibility of tendinopathy. Methodology Case-control study involving 242 Brazilian athletes from different sports modalities (55 cases of ...
Lucas Rafael Lopes +7 more
doaj +1 more source
Central role for the XRCC1 BRCT I domain in mammalian DNA single-strand break repair [PDF]
, 2002 The DNA single-strand break repair (SSBR) protein XRCC1 is required for genetic stability and for embryonic viability. XRCC1 possesses two BRCA1 carboxyl-terminal (BRCT) protein interaction domains, denoted BRCT I and II.
Caldecott, Keith W +2 more
core +3 more sources