Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Cancer"
DOI: 10.1002/ijc.31259
Abstract: Several known breast cancer susceptibility genes with moderate‐to‐high risk alleles encode proteins involved in DNA damage response (DDR). As these explain less than half of the hereditary breast cancer cases, additional predisposing alleles are likely… read more here.
Keywords: cancer; rare missense; missense mutations; breast cancer ... See more keywords
Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
Sign Up to like & getrecommendations! Published in 2022 at "International Review of Psychiatry"
DOI: 10.1080/09540261.2022.2072193
Abstract: Abstract Chromatin remodelling is an important process in neural development and is related to autism spectrum disorder (ASD) and schizophrenia (SCZ) aetiology. To further elucidate the involvement of chromatin remodelling genes in the genetic aetiology… read more here.
Keywords: chromatin remodelling; rare missense; missense variants; chromatin ... See more keywords
A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta
Sign Up to like & getrecommendations! Published in 2018 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehy142
Abstract: Abstract Aims Coarctation of the aorta (CoA) accounts for 4–8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study… read more here.
Keywords: coarctation aorta; myh6; missense mutation; coa ... See more keywords
Increased frequency of rare missense PPP1R3B variants among Danish patients with type 2 diabetes
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DOI: 10.1371/journal.pone.0210114
Abstract: BACKGROUND PPP1R3B has been suggested as a candidate gene for monogenic forms of diabetes as well as type 2 diabetes (T2D) due to its association with glycaemic trait and its biological role in glycogen synthesis.… read more here.
Keywords: ppp1r3b; ppp1r3b variants; type diabetes; missense ... See more keywords