Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

• Published in: Frontiers in Endocrinology Vol. 14
• Main Authors: Giampaolo Trivellin, Adrian F. Daly, Laura C. Hernández-Ramírez, Elisa Araldi, Christina Tatsi, Ryan K. Dale, Gus Fridell, Arjun Mittal, Fabio R. Faucz, James R. Iben, Tianwei Li, Eleonora Vitali, Stanko S. Stojilkovic, Peter Kamenicky, Chiara Villa, Bertrand Baussart, Prashant Chittiboina, Camilo Toro, William A. Gahl, Erica A. Eugster, Luciana A. Naves, Marie-Lise Jaffrain-Rea, Wouter W. de Herder, Sebastian JCMM Neggers, Patrick Petrossians, Albert Beckers, Andrea G. Lania, Richard E. Mains, Betty A. Eipper, Constantine A. Stratakis
• Format: Journal Article
• Language: Japanese
• Published: Frontiers Media SA 20.01.2023
• Subjects: [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism; [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology; Acromegaly; Alternative splicing; amidation; Biochemistry, Genetics and Molecular Biology; Biology; Cancer Research; Cushing disease; Cushing disease; acromegaly; amidation; gigantism; peptidylglycine α-amidating monooxygenase; pituitary tumors; Diagnosis and Management of Pituitary Disorders; Diseases of the endocrine glands. Clinical endocrinology; Endocrinology; Endocrinology, Diabetes and Metabolism; FOS: Biological sciences; Gene; Genetics; Germline; Gigantism; Health Sciences; Hormone; Internal medicine; Life Sciences; Loss function; Medicine; Messenger RNA; Metabolic Reprogramming in Cancer Biology; Minigene; Missense mutation; Molecular biology; peptidylglycine a-amidating monooxygenase; peptidylglycine a-amidating monooxygenase amidation gigantism acromegaly Cushing disease pituitary tumors; peptidylglycine α-amidating monooxygenase; peptidylglycine α-amidating monooxygenase, amidation, gigantism, acromegaly, Cushing disease, pituitary tumors; Phenotype; Pheochromocytoma and Paraganglioma; Pituitary Adenomas; Pituitary disease; Pituitary gland; Pituitary tumors; RC648-665; SDG 3 - Good Health and Well-being; Surgery
• ISSN: 1664-2392
• DOI: 10.60692/mr7xq-rye94