Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Fibroblasten-Wachstumsfaktor 20

Das Gen FGF20 kodiert eine Fibroblasten-Wachstumsfaktor. Mutationen in diesem gen führen zu der autosomal rezessiven renaler Aplasie Typ 2.

Diagnostik:

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

Krankheiten:

Renale Hypodysplasie/Aplasie 2
FGF20

Referenzen:

1.

Kirikoshi H et al. (2000) Molecular cloning and characterization of human FGF-20 on chromosome 8p21.3-p22.

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2.

Jeffers M et al. (2001) Identification of a novel human fibroblast growth factor and characterization of its role in oncogenesis.

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3.

Scott WK et al. (2001) Complete genomic screen in Parkinson disease: evidence for multiple genes.

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4.

van der Walt JM et al. (2004) Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease.

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5.

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

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6.

Clarimon J et al. (2005) Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients.

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7.

Whitehead GG et al. (2005) fgf20 is essential for initiating zebrafish fin regeneration.

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8.

Wang G et al. (2008) Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.

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9.

Wider C et al. (2009) FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression.

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10.

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

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