Reply to Mazzeu: Human mutations in RYK might cause Robinow syndrome
- PMID: 23472253
- PMCID: PMC3554955
- DOI: 10.1074/jbc.l112.444539
Reply to Mazzeu: Human mutations in RYK might cause Robinow syndrome
Comment on
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The Wnt coreceptor Ryk regulates Wnt/planar cell polarity by modulating the degradation of the core planar cell polarity component Vangl2.J Biol Chem. 2012 Dec 28;287(53):44518-25. doi: 10.1074/jbc.M112.414441. Epub 2012 Nov 9. J Biol Chem. 2012. PMID: 23144463 Free PMC article.
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RYK is not mutated in autosomal dominant Robinow syndrome.J Biol Chem. 2013 Jan 25;288(4):2905. doi: 10.1074/jbc.L112.439489. J Biol Chem. 2013. PMID: 23355721 Free PMC article. No abstract available.
References
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- Afzal A. R., Rajab A., Fenske C. D., Oldridge M., Elanko N., Ternes-Pereira E., Tüysüz B., Murday V. A., Patton M. A., Wilkie A. O., Jeffery S. (2000) Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat. Genet. 25, 419–422 - PubMed
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- van Bokhoven H., Celli J., Kayserili H., van Beusekom E., Balci S., Brussel W., Skovby F., Kerr B., Percin E. F., Akarsu N., Brunner H. G. (2000) Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat. Genet. 25, 423–426 - PubMed
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