T-Box Transkriptionsfaktor TBX19
Das TBX19-Gen kodiert einen Transkriptionsfaktor, der nur in den ACTH-produzierenden Zellen der Hypophyse vorkommt. Mutationen führen zur autosomal rezessiven isolierten kongenitalen ACTH-Defizit.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Yi CH et al. (1999) Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.
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2. |
Malpuech G et al. (1988) Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.
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3. |
Lamolet B et al. (2001) A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.
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4. |
Packham EA et al. (2003) T-box genes in human disorders.
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5. |
Metherell LA et al. (2004) TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
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6. |
Vallette-Kasic S et al. (2005) Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
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7. |
Vallette-Kasic S et al. (2007) The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions.
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8. |
Couture C et al. (2012) Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
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Update: 14. August 2020