Fibroblasten-Wachstumsfaktor 20
Das Gen FGF20 kodiert eine Fibroblasten-Wachstumsfaktor. Mutationen in diesem gen führen zu der autosomal rezessiven renaler Aplasie Typ 2.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Barak H et al. (2012) FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.
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2. |
Katoh M et al. (2005) Comparative genomics on FGF20 orthologs.
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3. |
Kirikoshi H et al. (2000) Molecular cloning and characterization of human FGF-20 on chromosome 8p21.3-p22.
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4. |
Jeffers M et al. (2001) Identification of a novel human fibroblast growth factor and characterization of its role in oncogenesis.
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5. |
Scott WK et al. (2001) Complete genomic screen in Parkinson disease: evidence for multiple genes.
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6. |
van der Walt JM et al. (2004) Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease.
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7. |
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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8. |
Whitehead GG et al. (2005) fgf20 is essential for initiating zebrafish fin regeneration.
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9. |
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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10. |
Wider C et al. (2009) FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression.
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11. |
Orphanet article
Orphanet ID 401132
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12. |
NCBI article
NCBI 26281
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13. |
OMIM.ORG article
Omim 605558
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Update: 14. August 2020