Literature DB >> 23472253

Reply to Mazzeu: Human mutations in RYK might cause Robinow syndrome.

Philipp Andre, Yingzi Yang.   

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Year:  2013        PMID： 23472253      PMCID： PMC3554955          DOI： 10.1074/jbc.l112.444539

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


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  6 in total

1.  Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2.

Authors:  A R Afzal; A Rajab; C D Fenske; M Oldridge; N Elanko; E Ternes-Pereira; B Tüysüz; V A Murday; M A Patton; A O Wilkie; S Jeffery
Journal:  Nat Genet       Date:  2000-08       Impact factor: 38.330

2.  Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

Authors:  H van Bokhoven; J Celli; H Kayserili; E van Beusekom; S Balci; W Brussel; F Skovby; B Kerr; E F Percin; N Akarsu; H G Brunner
Journal:  Nat Genet       Date:  2000-08       Impact factor: 38.330

3.  RYK is not mutated in autosomal dominant Robinow syndrome.

Authors:  Juliana F Mazzeu
Journal:  J Biol Chem       Date:  2013-01-25       Impact factor: 5.157

4.  The Wnt coreceptor Ryk regulates Wnt/planar cell polarity by modulating the degradation of the core planar cell polarity component Vangl2.

Authors:  Philipp Andre; Qianyi Wang; Na Wang; Bo Gao; Arielle Schilit; Michael M Halford; Steven A Stacker; Xuemin Zhang; Yingzi Yang
Journal:  J Biol Chem       Date:  2012-11-09       Impact factor: 5.157

5.  Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2.

Authors:  Bo Gao; Hai Song; Kevin Bishop; Gene Elliot; Lisa Garrett; Milton A English; Philipp Andre; James Robinson; Raman Sood; Yasuhiro Minami; Aris N Economides; Yingzi Yang
Journal:  Dev Cell       Date:  2011-02-15       Impact factor: 12.270

6.  WNT5A mutations in patients with autosomal dominant Robinow syndrome.

Authors:  Anthony D Person; Soraya Beiraghi; Christine M Sieben; Spencer Hermanson; Ann N Neumann; Mara E Robu; J Robert Schleiffarth; Charles J Billington; Hans van Bokhoven; Jeannette M Hoogeboom; Juliana F Mazzeu; Anna Petryk; Lisa A Schimmenti; Han G Brunner; Stephen C Ekker; Jamie L Lohr
Journal:  Dev Dyn       Date:  2010-01       Impact factor: 3.780
  6 in total

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