Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das WNT5A-Ge kodiert ein sezerniertes Signalprotein, welches eine wichtige Rolle in der Kanzerogenese und der Entwicklung zu spielen scheint. Mitationen führen zum autosomal dominanten Robinow-Syndrom 1, welches durch mutlpiple Fehbildungen gekennzeichnet ist.
| 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. |
Robinow M et al. (1969) A newly recognized dwarfing syndrome. 
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| 2. |
Miyamoto DT et al. (2015) RNA-Seq of single prostate CTCs implicates noncanonical Wnt signaling in antiandrogen resistance.
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| 3. |
Florian MC et al. (2013) A canonical to non-canonical Wnt signalling switch in haematopoietic stem-cell ageing.
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| 4. |
Miyoshi H et al. (2012) Wnt5a potentiates TGF-β signaling to promote colonic crypt regeneration after tissue injury.
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| 5. |
Stefater JA et al. (2011) Regulation of angiogenesis by a non-canonical Wnt-Flt1 pathway in myeloid cells.
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| 6. |
Ford CE et al. (2009) Wnt-5a signaling restores tamoxifen sensitivity in estrogen receptor-negative breast cancer cells.
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| 7. |
Witze ES et al. (2008) Wnt5a control of cell polarity and directional movement by polarized redistribution of adhesion receptors.
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| 8. |
Zhang X et al. (2007) Dishevelled promotes axon differentiation by regulating atypical protein kinase C.
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| 9. |
Schleiffarth JR et al. (2007) Wnt5a is required for cardiac outflow tract septation in mice.
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| 10. |
Mikels AJ et al. (2006) Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.
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| 11. |
Yamaguchi TP et al. (1999) A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo.
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| 12. |
He X et al. (1997) A member of the Frizzled protein family mediating axis induction by Wnt-5A.
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| 13. |
Clark CC et al. (1993) Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21.
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| 14. |
Gavin BJ et al. (1990) Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development.
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| 15. |
Roifman M et al. (2015) De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.
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| 16. |
Person AD et al. (2010) WNT5A mutations in patients with autosomal dominant Robinow syndrome.
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| 17. |
Oishi I et al. (2003) The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.
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| 18. |
Kuss P et al. (2014) Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A.
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| 19. |
NCBI article NCBI 7474
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| 20. |
OMIM.ORG article Omim 164975
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| 21. |
Orphanet article Orphanet ID 231387
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