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
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
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
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
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
Genetic basis of proportional short stature.
Campos-Barros A et al.
Advances in Experimental Medicine and Biology, 2005
Genetic defects in GH synthesis and secretion.
Bona G et al.
European Journal of Endocrinology, 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
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.
McLennan K et al.
Clinical 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
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 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
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
Genetic aspects of central hypothyroidism.
Collu R
Journal of Endocrinological Investigation, 2000
Pituitary gene mutations and the growth hormone pathway.
Moseley CT et al.
Seminars in Reproductive Medicine, 2000
Heritable disorders of pituitary development.
Parks JS et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.
Pernasetti F et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Description of a Brazilian patient bearing the R271W Pit-1 gene mutation.
Rodrigues Martineli AM et al.
Thyroid : Official Journal of the American Thyroid Association, 1998
Combined pituitary deficiencies of growth hormone, thyroid stimulating hormone and prolactin due to Pit-1 gene mutation: a case report.
Holl RW et al.
European Journal of Pediatrics, 1997
A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency.
Irie Y et al.
Endocrine Journal, 1995
Clinical and molecular characterization of a Brazilian patient with Pit-1 deficiency.
Arnhold IJ et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0