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
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Kırkgöz T et al.
Archives of Endocrinology and Metabolism, 2023
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
Akiba K et al.
Endocrinology, 2022
Heterozygous LHX3 mutations may lead to a mild phenotype of combined pituitary hormone deficiency.
Jullien N et al.
European Journal of Human Genetics : Ejhg, 2019
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 2011
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.
Pfäffle R et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 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
Congenital thyrotropin deficiency--from discovery to molecular biology, postgenome and preventive medicine.
Miyai K
Endocrine Journal, 2007
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
[Molecular genetics of congenital isolated thyrotropin deficiency].
Miyai K
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1994