Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibroblastenwachstumsfaktor 9

Das FGF8-Gen kodiert ein glia-aktivierenden Wachstumsfaktor. Mutationen führen zur dominantem Syndrom der multiplen Synostosen 3.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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.

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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.

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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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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