Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.Q4*
Back to variants list

POU1F1

NM_000306.4:p.Q4*

Associated Papers

Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene.

Kawauchi Y et al.

International Journal of Molecular Sciences, 2025

POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.

Jadhav S et al.

Pituitary, 2021

Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms.

Baş F et al.

Hormones (athens, Greece), 2018

Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.

Baş F et al.

Endocrine, 2015

A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.

Tenenbaum-Rakover Y et al.

Clinical Endocrinology, 2011

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Basic science and clinical research advances in the pituitary transcription factors: Pit-1 and Prop-1.

Kerr J et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2008

The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.

Kelberman D et al.

Annals of Medicine, 2006

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.

Turton JP et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.

Gat-Yablonski G et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005

Absent or delayed adrenarche in Pit-1/POU1F1 deficiency.

Taha D et al.

Hormone Research, 2005

Genetic defects in GH synthesis and secretion.

Bona G et al.

European Journal of Endocrinology, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."