Activating PRKACB somatic mutation in cortisol-producing adenomas
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چکیده
منابع مشابه
Somatic mutations activating STAT3 in human inflammatory hepatocellular adenomas
Inflammatory hepatocellular adenomas (IHCAs) are benign liver tumors. 60% of these tumors have IL-6 signal transducer (IL6ST; gp130) mutations that activate interleukin 6 (IL-6) signaling. Here, we report that 12% of IHCA subsets lacking IL6ST mutations harbor somatic signal transducer and activator of transcription 3 (STAT3) mutations (6/49). Most of these mutations are amino acid substitution...
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Primary aldosteronism (PA) is the most common cause of secondary hypertension with a prevalence of 5-10% in unreferred hypertensive patients. Aldosterone producing adenomas (APAs) constitute a large proportion of PA cases and represent a surgically correctable form of the disease. The WNT signaling pathway is activated in APAs. In other tumors, a frequent cause of aberrant WNT signaling is muta...
متن کاملSomatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.
Aldosterone-producing adenomas (APAs) cause a sporadic form of primary aldosteronism and somatic mutations in the KCNJ5 gene, which encodes the G-protein-activated inward rectifier K(+) channel 4, GIRK4, account for ≈40% of APAs. Additional somatic APA mutations were identified recently in 2 other genes, ATP1A1 and ATP2B3, encoding Na(+)/K(+)-ATPase 1 and Ca(2+)-ATPase 3, respectively, at a com...
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Insulinomas are pancreatic islet tumors that inappropriately secrete insulin, producing hypoglycemia. Exome and targeted sequencing revealed that 14 of 43 insulinomas harbored the identical somatic mutation in the DNA-binding zinc finger of the transcription factor Yin Yang 1 (YY1). Chromatin immunoprecipitation sequencing (ChIP-Seq) showed that this T372R substitution changes the DNA motif bou...
متن کاملAldosterone-Producing Adenomas
Unilateral primary aldosteronism (PA) is a common surgically curable cause of secondary hypertension. Adrenal glands removed for unilateral PA display histological heterogeneity. Recently, gain-of-function somatic mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1 have been found in 50% to 80% of aldosterone-producing adenomas (APAs). These gain-of-function mutations provide plausible mech...
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ژورنال
عنوان ژورنال: JCI Insight
سال: 2018
ISSN: 2379-3708
DOI: 10.1172/jci.insight.98296