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
Update on the genetic architecture of rheumatoid arthritis
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DOI: 10.1038/nrrheum.2016.176
Abstract: Human genetic studies into rheumatoid arthritis (RA) have uncovered more than 100 genetic loci associated with susceptibility to RA and have refined the RA-association model for HLA variants. The majority of RA-risk variants are highly… read more here.
Keywords: risk; rheumatoid arthritis; architecture rheumatoid; genetic architecture ... See more keywords
Chronic pancreatitis: an update on genetic risk factors
Sign Up to like & getrecommendations! Published in 2018 at "Current Opinion in Gastroenterology"
DOI: 10.1097/mog.0000000000000461
Abstract: Purpose of review Genetic mutations in genes within and outside of the trypsin-dependent pathologic pathway have been found to be associated with chronic pancreatitis. This review highlights recent developments. Recent findings CTRB1-CTRB2 has been identified… read more here.
Keywords: pancreatitis; pancreatitis update; chronic pancreatitis; update genetic ... See more keywords
An update of genetic basis of PCOS pathogenesis.
Sign Up to like & getrecommendations! Published in 2018 at "Archives of endocrinology and metabolism"
DOI: 10.20945/2359-3997000000049
Abstract: Polycystic ovary syndrome (PCOS) is a common and complex endocrine disorder that affects 5-20% of reproductive age women. PCOS clinical symptoms include hirsutism, menstrual dysfunction, infertility, obesity and metabolic syndrome. There is a wide heterogeneity… read more here.
Keywords: basis pcos; genetic basis; pcos; pcos pathogenesis ... See more keywords
Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic?
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms21197155
Abstract: Brugada syndrome is a rare inherited arrhythmogenic disease leading to ventricular fibrillation and high risk of sudden death. In 1998, this syndrome was linked with a genetic variant with an autosomal dominant pattern of inheritance.… read more here.
Keywords: disease; brugada syndrome; polygenic oligogenic; update genetic ... See more keywords