Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion - Sorbonne Université Access content directly
Journal Articles Frontiers in Endocrinology Year : 2023

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

Giampaolo Trivellin
  • Function : Author
Adrian F Daly
  • Function : Author
Laura C Hernández-Ramírez
  • Function : Author
Elisa Araldi
  • Function : Author
Christina Tatsi
  • Function : Author
Ryan K Dale
  • Function : Author
Gus Fridell
  • Function : Author
Arjun Mittal
  • Function : Author
Fabio R Faucz
  • Function : Author
James R Iben
  • Function : Author
Tianwei Li
  • Function : Author
Eleonora Vitali
  • Function : Author
Stanko S Stojilkovic
  • Function : Author
Peter Kamenicky
  • Function : Author
Prashant Chittiboina
  • Function : Author
Camilo Toro
  • Function : Author
William A Gahl
  • Function : Author
Erica A Eugster
  • Function : Author
Luciana A Naves
  • Function : Author
Marie-Lise Jaffrain-Rea
  • Function : Author
Wouter W de Herder
  • Function : Author
Sebastian Jcmm Neggers
  • Function : Author
Patrick Petrossians
  • Function : Author
Albert Beckers
  • Function : Author
Andrea G Lania
  • Function : Author
Richard E Mains
  • Function : Author
Betty A Eipper
  • Function : Author
Constantine A Stratakis
  • Function : Author

Abstract

Pituitary adenomas (PAs) are common, usually benign tumors of the anterior pituitary gland which, for the most part, have no known genetic cause. PAs are associated with major clinical effects due to hormonal dysregulation and tumoral impingement on vital brain structures. PAM encodes a multifunctional protein responsible for the essential C-terminal amidation of secreted peptides.
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Origin : Publication funded by an institution

Dates and versions

hal-04255013 , version 1 (23-10-2023)

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Giampaolo Trivellin, Adrian F Daly, Laura C Hernández-Ramírez, Elisa Araldi, Christina Tatsi, et al.. Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion. Frontiers in Endocrinology, 2023, 14, ⟨10.3389/fendo.2023.1166076⟩. ⟨hal-04255013⟩
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