homeobox protein prophet of Pit-1
The PROP1 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 2.
Genetests:
Related Diseases:
References:
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McKusick VA et al. (1967) General Tom Thumb and other midgets.
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Reynaud R et al. (2005) An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.
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Nasonkin IO et al. (2004) Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice.
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Vieira TC et al. (2003) Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.
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Bartke A et al. (2001) Extending the lifespan of long-lived mice.
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Cushman LJ et al. (2001) Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.
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Osorio MG et al. (2000) Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.
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8. |
Deladoëy J et al. (1999) "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.
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9. |
Nakamura Y et al. (1999) Characterization of Prophet of Pit-1 gene expression in normal pituitary and pituitary adenomas in humans.
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10. |
Duquesnoy P et al. (1998) Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency.
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11. |
Gage PJ et al. (1996) The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage-specific cell proliferation.
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Sornson MW et al. (1996) Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defective in Ames dwarfism.
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13. |
Brown-Borg HM et al. (1996) Dwarf mice and the ageing process.
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14. |
Reynaud R et al. (2004) A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.
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Böttner A et al. (2004) PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.
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16. |
Vallette-Kasic S et al. (2001) PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
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Osorio MG et al. (2002) Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.
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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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Andersen B et al. (1995) The Ames dwarf gene is required for Pit-1 gene activation.
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20. |
Wu W et al. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency.
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21. |
Fofanova O et al. (1998) Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency.
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22. |
Cogan JD et al. (1998) The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency.
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23. |
Flück C et al. (1998) Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C).
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24. |
Rosenbloom AL et al. (1999) Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene.
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Mendonca BB et al. (1999) Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.
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Pernasetti F et al. (2000) Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.
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Agarwal G et al. (2000) Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.
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Riepe FG et al. (2001) Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.
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Lee JK et al. (2004) Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.
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NCBI article
NCBI 5626
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31. |
OMIM.ORG article
Omim 601538
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32. |
Orphanet article
Orphanet ID 118051
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Wikipedia article
Wikipedia EN (PROP1)
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Update: Aug. 14, 2020