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
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
Sobrier ML et al.
Human Molecular Genetics, 2016
Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency.
Inoue H 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
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
Pituitary transcription factors: from congenital deficiencies to gene therapy.
Quentien MH et al.
Journal of Neuroendocrinology, 2006
[Combined deficiency of TSH, GH, and PRL (PIT1 abnormality and PROP1 abnormality)].
Tatsumi KI
Nihon Rinsho. Japanese Journal of Clinical 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
The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient.
Malvagia S et al.
Pediatric Research, 2003
New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.
Salemi S et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2003
A novel nonsense mutation in the Pit-1 gene: evidence for a gene dosage effect.
Hashimoto Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Novel function of the transactivation domain of a pituitary-specific transcription factor, Pit-1.
Kishimoto M et al.
The Journal of Biological Chemistry, 2002
Genetic defects in the development and function of the anterior pituitary gland.
Cushman LJ et al.
Annals of Medicine, 2002
Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.
Hendriks-Stegeman BI et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
POU domain factors in the neuroendocrine system: lessons from developmental biology provide insights into human disease.
Andersen B et al.
Endocrine Reviews, 2001
Heritable disorders of pituitary development.
Parks JS et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.
Fofanova OV et al.
American Journal of Medical Genetics, 1998