Bibliographic Details
| Title: |
PAM variants in patients with thyrotrophinomas, cyclical Cushing’s disease and prolactinomas |
| Authors: |
Sunita M. C. De Sousa, Angeline Shen, Christopher J. Yates, Roderick Clifton-Bligh, Stephen Santoreneos, James King, John Toubia, Giampaolo Trivellin, Andrea G. Lania, Constantine A. Stratakis, David J. Torpy, Hamish S. Scott |
| Source: |
Frontiers in Endocrinology, Vol 14 (2023) |
| Publisher Information: |
Frontiers Media S.A., 2023. |
| Publication Year: |
2023 |
| Collection: |
LCC:Diseases of the endocrine glands. Clinical endocrinology |
| Subject Terms: |
peptidylglycine α-amidating monooxygenase, whole exome sequencing, Cushing’s disease, prolactinoma, thyrotrophinoma, pituitary adenomas, Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| More Details: |
IntroductionGermline loss-of-function variants in PAM, encoding peptidylglycine α-amidating monooxygenase (PAM), were recently discovered to be enriched in conditions of pathological pituitary hypersecretion, specifically: somatotrophinoma, corticotrophinoma, and prolactinoma. PAM is the sole enzyme responsible for C-terminal amidation of peptides, and plays a role in the biosynthesis and regulation of multiple hormones, including proopiomelanocortin (POMC).MethodsWe performed exome sequencing of germline and tumour DNA from 29 individuals with functioning pituitary adenomas (12 prolactinomas, 10 thyrotrophinomas, 7 cyclical Cushing’s disease). An unfiltered analysis was undertaken of all PAM variants with population prevalence |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1664-2392 |
| Relation: |
https://www.frontiersin.org/articles/10.3389/fendo.2023.1305606/full; https://doaj.org/toc/1664-2392 |
| DOI: |
10.3389/fendo.2023.1305606 |
| Access URL: |
https://doaj.org/article/8744933f161647be97ed9c22bd62f41e |
| Accession Number: |
edsdoj.8744933f161647be97ed9c22bd62f41e |
| Database: |
Directory of Open Access Journals |
