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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…
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Keywords:
stk11 gene;
coronary artery;
type diabetes;
type ... See more keywords
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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…
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Keywords:
stk11 gene;
p53 activity;
jeghers syndrome;
cancer ... See more keywords
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Published in 2018 at "World Journal of Clinical Cases"
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…
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Keywords:
stk11 gene;
lkb1 stk11;
gene mutation;
gene ... See more keywords
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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…
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Keywords:
atypical presentation;
presentation;
stk11 gene;
presentation pathogenic ... See more keywords