Association between STK11 Gene Polymorphisms and Coronary Artery Disease in Type 2 Diabetes in Han Population in China
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Diabetes Research"
DOI: 10.1155/2017/6297087
Abstract: Background. Recent studies indicated that the Serine threonine kinase 11 (STK11), which is a key regulator of the AMP-activated protein kinase (AMPK), plays a crucial role in cardiovascular system. This study aimed to investigate whether… read more here.
Keywords: stk11 gene; coronary artery; type diabetes; type ... See more keywords
The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome
Sign Up to like & getrecommendations! Published in 2018 at "BMC Medical Genetics"
DOI: 10.1186/s12881-018-0626-5
Abstract: BackgroundPeutz-Jeghers syndrome (PJS) is caused by mutations in serine/threonine kinase 11 (STK11) gene. The increased cancer risk has been connected to P53 pathway.MethodsPJS probands with STK11 mutation were included in the function analysis. P53 activity… read more here.
Keywords: stk11 gene; p53 activity; jeghers syndrome; cancer ... See more keywords
Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature
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DOI: 10.12998/wjcc.v6.i8.224
Abstract: Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disease, which is characterized by mucocutaneous pigmentation and multiple gastrointestinal hamartoma polyps. The germline mutation of LKB1/STK11 gene on chromosome 19p13.3 is considered to be the hereditary… read more here.
Keywords: stk11 gene; lkb1 stk11; gene mutation; gene ... See more keywords
An atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0567
Abstract: Abstract Objectives To report an atypical presentation of a pathogenic STK11 gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome (PJS). Case presentation Two siblings presented with prepubertal gynaecomastia and bilateral… read more here.
Keywords: atypical presentation; presentation; stk11 gene; presentation pathogenic ... See more keywords