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Homeobox-Protein-Prophet von Pit-1

Das PROP1-Gen kodiert einen Transkriptionsfaktor, der für die normale Entwicklung der Hypophyse und die Synthese der Hormone verantwortlich zeichnet. Mutatonen verursachen die autosomal rezessive Erkrankung Hyophysenhormonmangel Typ 2.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hyophysenhormonmangel Typ 2
PROP1

Referenzen:

1.

McKusick VA et al. (1967) General Tom Thumb and other midgets.

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2.

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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3.

Nasonkin IO et al. (2004) Pituitary hypoplasia and respiratory distress syndrome in Prop1 knockout mice.

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4.

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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5.

Bartke A et al. (2001) Extending the lifespan of long-lived mice.

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6.

Cushman LJ et al. (2001) Persistent Prop1 expression delays gonadotrope differentiation and enhances pituitary tumor susceptibility.

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7.

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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12.

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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15.

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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17.

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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18.

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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19.

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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25.

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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26.

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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27.

Agarwal G et al. (2000) Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.

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28.

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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29.

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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30.

NCBI article

NCBI 5626 external link
31.

OMIM.ORG article

Omim 601538 external link
32.

Orphanet article

Orphanet ID 118051 external link
Update: 14. August 2020
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