PMC Links for OMIM (Select 601365) - PMC

Select item 43851931.

Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

Kieran J. Bunn, Phil Daniel, Heleen S. Rösken, Adam C. O’Neill, Sophia R. Cameron-Christie, Tim Morgan, Han G. Brunner, Angeline Lai, Henricus P.M. Kunst, David M. Markie, Stephen P. Robertson

Am J Hum Genet. 2015 Apr 2; 96(4): 623–630. doi: 10.1016/j.ajhg.2015.02.010

PMCID:: PMC4385193

Abstract Article PDF–622K

Select item 43851802.

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Janson White, Juliana F. Mazzeu, Alexander Hoischen, Shalini N. Jhangiani, Tomasz Gambin, Michele Calijorne Alcino, Samantha Penney, Jorge M. Saraiva, Hanne Hove, Flemming Skovby, Hülya Kayserili, Elicia Estrella, Anneke T. Vulto-van Silfhout, Marloes Steehouwer, Donna M. Muzny, V. Reid Sutton, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, James R. Lupski, Han G. Brunner, Bregje W.M. van Bon, Claudia M.B. Carvalho

Am J Hum Genet. 2015 Apr 2; 96(4): 612–622. doi: 10.1016/j.ajhg.2015.02.015

PMCID:: PMC4385180

Abstract Article PDF–953K

Select item 32355223.

Vangl2 promotes Wnt/Planar Cell Polarity-like signaling by antagonizing Dvl1-mediated feedback inhibition in growth cone guidance

Beth Shafer, Keisuke Onishi, Charles Lo, Gulsen Colakoglu, Yimin Zou

Dev Cell. Author manuscript; available in PMC 2012 Feb 15.

Published in final edited form as: Dev Cell. 2011 Feb 15; 20(2): 177–191. doi: 10.1016/j.devcel.2011.01.002

Correction in:: volume 20 on page 407

PMCID:: PMC3235522

Abstract Article PDF–4.7M

Select item 30098824.

Identification of Transmembrane Protein 88 (TMEM88) as a Dishevelled-binding Protein

Ho-Jin Lee, David Finkelstein, Xiaofeng Li, Dianqing Wu, De-Li Shi, Jie J. Zheng

J Biol Chem. 2010 Dec 31; 285(53): 41549–41556. Published online 2010 Nov 2. doi: 10.1074/jbc.M110.193383

PMCID:: PMC3009882

Abstract Article PDF–1.8M

Select item 27488995.

Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways

Rosa M. Sancho, Bernard M.H. Law, Kirsten Harvey

Hum Mol Genet. 2009 Oct 15; 18(20): 3955–3968. Published online 2009 Jul 22. doi: 10.1093/hmg/ddp337

PMCID:: PMC2748899

Abstract Article PDF–794K

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