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
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
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
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
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
Pituitary hormone deficiencies due to transcription factor gene alterations.
Reynaud R et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2004
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
The R271W mutant form of Pit-1 does not act as a dominant inhibitor of Pit-1 action to activate the promoters of GH and prolactin genes.
Kishimoto M et al.
European Journal of Endocrinology, 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
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 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
LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes.
Sloop KW et al.
Gene, 2001
Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates.
Vallette-Kasic S et al.
Molecular Endocrinology (baltimore, Md.), 2001
POU domain factors in the neuroendocrine system: lessons from developmental biology provide insights into human disease.
Andersen B et al.
Endocrine Reviews, 2001
The molecular basis for developmental disorders of the pituitary gland in man.
Dattani MT et al.
Clinical Genetics, 2000
Heritable disorders of pituitary development.
Parks JS et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Combined pituitary hormone deficiency: role of Pit-1 and Prop-1.
Pfäffle RW et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1999
The molecular genetics of growth hormone deficiency.
Procter AM et al.
Human Genetics, 1998
Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.
Fofanova OV et al.
American Journal of Medical Genetics, 1998
Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation.
Ward L et al.
The Journal of Pediatrics, 1998
[Molecular genetics of congenital isolated thyrotropin deficiency].
Miyai K
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1994
Transcriptional regulation of gene expression: mechanisms and pathophysiology.
Semenza GL
Human Mutation, 1994
Identification of a novel zinc finger protein binding a conserved element critical for Pit-1-dependent growth hormone gene expression.
Lipkin SM et al.
Genes & Development, 1993
Pit-1 and pituitary function.
Pfäffle RW et al.
The Journal of Pediatric Endocrinology, 0