Tyrosine-Protein-Kinase transmembranöser Rezeptor ROR2
Das ROR2-Gen kodiert einen Tyrosinkinase, die als membranständiger Rezeptor bei der Steuerung von Knochen- und Knorpelbildung beteiligt ist. Mutationen führen zum autosomal rezessiven Robinow-Syndrom und zu dominanter Brachydaktylie Typ B1.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Mikels AJ et al. (2006) Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.
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2. |
Ali BR et al. (2007) Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.
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3. |
Chen Y et al. (2005) ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.
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4. |
Afzal AR et al. (2003) One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B.
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5. |
van Bokhoven H et al. (2002) Splitting p63.
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6. |
Nomi M et al. (2001) Loss of mRor1 enhances the heart and skeletal abnormalities in mRor2-deficient mice: redundant and pleiotropic functions of mRor1 and mRor2 receptor tyrosine kinases.
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7. |
Takeuchi S et al. (2000) Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation.
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8. |
Manouvrier-Hanu S et al. (1999) Genetics of limb anomalies in humans.
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9. |
Deloukas P et al. (1998) A physical map of 30,000 human genes.
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10. |
Innis JW et al. (1998) Limb development: molecular dysmorphology is at hand!
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11. |
Masiakowski P et al. (1992) A novel family of cell surface receptors with tyrosine kinase-like domain.
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12. |
None (1978) Hereditary brachydactyly with nail dysplasia.
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13. |
None (1979) Hereditary brachydactyly with nail dysplasia.
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14. |
Schwarzer W et al. (2009) A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes.
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15. |
Brunetti-Pierri N et al. (2008) Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
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16. |
Schwabe GC et al. (2004) Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive 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. |
Oldridge M et al. (1999) Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity.
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19. |
Oishi I et al. (1999) Spatio-temporally regulated expression of receptor tyrosine kinases, mRor1, mRor2, during mouse development: implications in development and function of the nervous system.
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20. |
DeChiara TM et al. (2000) Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development.
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21. |
Oldridge M et al. (2000) Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
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22. |
Schwabe GC et al. (2000) Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
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23. |
Bacchelli C et al. (2003) ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome.
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24. |
Hamamy H et al. (2006) Brachydactyly type B1: report of a family with de novo ROR2 mutation.
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25. |
Lv D et al. (2009) A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.
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26. |
Kjaer KW et al. (2009) A novel subtype of distal symphalangism affecting only the 4th finger.
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27. |
Afzal AR et al. (2000) Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.
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28. |
van Bokhoven H et al. (2000) Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
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29. |
Tufan F et al. (2005) Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome.
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30. |
NCBI article
NCBI 4920
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31. |
OMIM.ORG article
Omim 602337
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32. |
Orphanet article
Orphanet ID 118362
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Update: 14. August 2020