Fibroblastenwachstumsfaktor 9
Das FGF9-Gen kodiert ein glia-aktivierenden Wachstumsfaktor. Mutationen führen zur dominantem Syndrom der multiplen Synostosen 3.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Sun X et al. (2000) Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud development.
|
2. |
Mariani FV et al. (2008) Genetic evidence that FGFs have an instructive role in limb proximal-distal patterning.
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3. |
Wu XL et al. (2009) Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.
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4. |
Barak H et al. (2012) FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
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5. |
Miyamoto M et al. (1993) Molecular cloning of a novel cytokine cDNA encoding the ninth member of the fibroblast growth factor family, which has a unique secretion property.
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6. |
Mattei MG et al. (1995) The human FGF9 gene maps to chromosomal region 13q11-q12.
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7. |
Colvin JS et al. (2001) Male-to-female sex reversal in mice lacking fibroblast growth factor 9.
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8. |
Katoh M et al. (2005) Comparative genomics on FGF20 orthologs.
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9. |
Harada M et al. (2009) FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion.
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10. |
NCBI article
NCBI 2254
|
11. |
OMIM.ORG article
Omim 600921
|
12. |
Orphanet article
Orphanet ID 201587
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Update: 14. August 2020