Associated Papers
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
Akiba K et al.
Endocrinology, 2022
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
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
Role of transcription factors in midline central nervous system and pituitary defects.
Kelberman D et al.
Endocrine Development, 2009
[Clinical and genetic aspects of combined pituitary hormone deficiencies].
Castinetti F et al.
Annales D'endocrinologie, 2008
Hypothalamic and pituitary development: novel insights into the aetiology.
Kelberman D et al.
European Journal of Endocrinology, 2007
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
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?
Dattani MT
Clinical Endocrinology, 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
Genetic basis of proportional short stature.
Campos-Barros A et al.
Advances in Experimental Medicine and Biology, 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
Novel insights into the aetiology and pathogenesis of hypopituitarism.
Dattani MT
Hormone Research, 2004
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
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
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