Varaico: Literature-Extracted Genetic Variants

Gene:POU1F1
Variant:p.K145*
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POU1F1

NM_000306.4:p.K145*

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

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

A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency.

Carlomagno Y et al.

Journal of Endocrinological Investigation, 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

Pituitary transcription factors: from congenital deficiencies to gene therapy.

Quentien MH et al.

Journal of Neuroendocrinology, 2006

The role of CBP/p300 interactions and Pit-1 dimerization in the pathophysiological mechanism of combined pituitary hormone deficiency.

Cohen RN et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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

Kelberman D et al.

Annals of Medicine, 2006

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

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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."