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
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Development of the Pituitary Gland.
Alatzoglou KS et al.
Comprehensive Physiology, 2020
Joint laxity in homozygotes for severe POU1F1 mutations.
Shamseldin HE et al.
American Journal of Medical Genetics. Part A, 2016
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.
Turton JP et al.
Clinical Endocrinology, 2012
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
Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.
Miyata I 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
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
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