Identification of a novel somatic mutation of POU6F2 by whole‐genome sequencing in prolactinoma
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1022
Abstract: Pituitary adenomas (PAs) are one of the most common intracranial tumors; approximately half of PAs are prolactin (PRL)‐secreting PAs (prolactinomas). The genetic alterations prevalent in prolactinomas are unknown. read more here.
Keywords: novel somatic; whole genome; somatic mutation; mutation pou6f2 ... See more keywords
A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Cardiology"
DOI: 10.1007/s00246-019-02099-y
Abstract: Congenital heart defects (CHDs) are the leading cause of death in infants under 1 year of age. Aberrations in the expression and function of cardiac transcription factors (TFs) are a major contributor to CHDs. Despite the… read more here.
Keywords: hey2; novel somatic; ventricular septal; variant hey2 ... See more keywords
A Novel Somatic Mutation of CACNA1H p.V1937M in Unilateral Primary Hyperaldosteronism
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.816476
Abstract: Background Somatic mutations for excess aldosterone production have been frequently identified as important roles in the pathogenesis of unilateral primary hyperaldosteronism (uPA). Although CACNA1H mutation represents a minor etiology in primary aldosteronism, it plays a… read more here.
Keywords: cacna1h v1937m; unilateral primary; primary hyperaldosteronism; novel somatic ... See more keywords