Pituitary-specific positive transcription factor 1
The POU1F1 gene encodes a transcription factor that is required for pituitary development and hormone expression. Mutations in this gene cause autosomal recessive combined pituitary hormone deficiency 1.
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References:
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Andersen B et al. (1995) The Ames dwarf gene is required for Pit-1 gene activation.
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Miyata I et al. (2006) Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.
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Ohta K et al. (1992) Characterization of the gene encoding human pituitary-specific transcription factor, Pit-1.
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4. |
Li S et al. (1990) Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1.
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Camper SA et al. (1990) The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutation.
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6. |
Castrillo JL et al. (1989) Purification of growth hormone-specific transcription factor GHF-1 containing homeobox.
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7. |
Bodner M et al. (1988) The pituitary-specific transcription factor GHF-1 is a homeobox-containing protein.
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8. |
Ingraham HA et al. (1988) A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotype.
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9. |
Herr W et al. (1988) The POU domain: a large conserved region in the mammalian pit-1, oct-1, oct-2, and Caenorhabditis elegans unc-86 gene products.
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10. |
Delhase M et al. (1995) A novel pituitary transcription factor is produced by alternative splicing of the human GHF-1/PIT-1 gene.
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11. |
Rogol AD et al. (1976) Congenital hypothyroidism in a young man with growth hormone, thyrotropin, and prolactin deficiencies.
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12. |
Schanke JT et al. (1997) Pit-1/growth hormone factor 1 splice variant expression in the rhesus monkey pituitary gland and the rhesus and human placenta.
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13. |
Rodrigues Martineli AM et al. (1998) Description of a Brazilian patient bearing the R271W Pit-1 gene mutation.
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14. |
Rajas F et al. (1998) Nuclear factor 1 regulates the distal silencer of the human PIT1/GHF1 gene.
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15. |
Gaiddon C et al. (1999) The tissue-specific transcription factor Pit-1/GHF-1 binds to the c-fos serum response element and activates c-fos transcription.
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16. |
Scully KM et al. (2000) Allosteric effects of Pit-1 DNA sites on long-term repression in cell type specification.
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Flurkey K et al. (2001) Lifespan extension and delayed immune and collagen aging in mutant mice with defects in growth hormone production.
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Qi Y et al. (2008) Atbf1 is required for the Pit1 gene early activation.
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Skowronska-Krawczyk D et al. (2014) Required enhancer-matrin-3 network interactions for a homeodomain transcription program.
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20. |
Hashimoto Y et al. (2003) A novel nonsense mutation in the Pit-1 gene: evidence for a gene dosage effect.
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21. |
Dasen JS et al. (1999) Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types.
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22. |
Tatsumi K et al. (1992) Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.
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23. |
Ohta K et al. (1992) Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.
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24. |
Radovick S et al. (1992) A mutation in the POU-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency.
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25. |
Pfäffle RW et al. (1992) Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia.
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Wit JM et al. (1989) Total deficiency of growth hormone and prolactin, and partial deficiency of thyroid stimulating hormone in two Dutch families: a new variant of hereditary pituitary deficiency.
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27. |
McArthur RG et al. (1985) The natural history of familial hypopituitarism.
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McKusick VA et al. (1967) General Tom Thumb and other midgets.
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de Zegher F et al. (1995) The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency.
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Irie Y et al. (1995) A novel E250X mutation of the PIT1 gene in a patient with combined pituitary hormone deficiency.
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Okamoto N et al. (1994) Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.
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Pellegrini-Bouiller I et al. (1996) A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency.
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33. |
Aarskog D et al. (1997) Pituitary dwarfism in the R271W Pit-1 gene mutation.
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Pernasetti F et al. (1998) Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.
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35. |
Vallette-Kasic S et al. (2001) Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates.
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Hendriks-Stegeman BI et al. (2001) Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.
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Turton JP et al. (2005) Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
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Orphanet article
Orphanet ID 117948
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NCBI article
NCBI 5449
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OMIM.ORG article
Omim 173110
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Wikipedia article
Wikipedia EN (Pituitary-specific_positive_transcription_factor_1)
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Update: Aug. 14, 2020