Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
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

Verknüpfte Erkrankungen:

Syndrom der multiplen Synostosen 3
FGF9

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.

[^]
3.

Wu XL et al. (2009) Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.

[^]
4.

Barak H et al. (2012) FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

[^]
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.

[^]
6.

Mattei MG et al. (1995) The human FGF9 gene maps to chromosomal region 13q11-q12.

[^]
7.

Colvin JS et al. (2001) Male-to-female sex reversal in mice lacking fibroblast growth factor 9.

[^]
8.

Katoh M et al. (2005) Comparative genomics on FGF20 orthologs.

[^]
9.

Harada M et al. (2009) FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion.

[^]
10.

NCBI article

NCBI 2254 [^]
11.

OMIM.ORG article

Omim 600921 [^]
12.

Orphanet article

Orphanet ID 201587 [^]
Update: 9. Mai 2019