Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das FGF9-Gen kodiert ein glia-aktivierenden Wachstumsfaktor. Mutationen führen zur dominantem Syndrom der multiplen Synostosen 3.
| Klinisch | Untersuchungsmethoden | Familienuntersuchung |
| Bearbeitungszeit | 5 Tage | |
| Probentyp | genomische DNS |
| Klinisch | Untersuchungsmethoden | Hochdurchsatz-Sequenzierung |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
| Forschung | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
| 1. |
Sun X et al. (2000) Conditional inactivation of Fgf4 reveals complexity of signalling during limb bud development. 
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| 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
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| 11. |
OMIM.ORG article Omim 600921
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| 12. |
Orphanet article Orphanet ID 201587
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