Skip to Main content Skip to Navigation
Journal articles

Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform

Abstract : Recent studies have shown a novel mechanism of combined pituitary hormone deficiency associated with mutations in POU1F1 , altering the balance of alternative-splicing, which results in over-expression of the beta isoform of POU1F1. These studies underscore the need for biologists, in the context of routine molecular diagnosis of this condition, to investigate alternative splicing in POU1F1 as well as in other genes.
Document type :
Journal articles
Complete list of metadata

https://hal-amu.archives-ouvertes.fr/hal-03660858
Contributor : Valérie Gall Connect in order to contact the contributor
Submitted on : Friday, May 6, 2022 - 12:41:03 PM
Last modification on : Tuesday, May 10, 2022 - 3:36:39 AM

Links full text

Identifiers

Collections

Citation

Thierry Brue, Sally Camper. Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform. European Journal of Endocrinology, BioScientifica, 2021, 185 (6), pp.C19-C25. ⟨10.1530/EJE-21-0949⟩. ⟨hal-03660858⟩

Share

Metrics

Record views

5