PMC Links for OMIM (Select 605706) - PMC

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Items: 4

Select item 40942951.

RIPK4 phosphorylates Dishevelled proteins to regulate canonical Wnt signaling

XiaoDong Huang, James C. McGann, Bob Y. Liu, Rami N. Hannoush, Jennie R. Lill, Victoria Pham, Kim Newton, Michael Kakunda, Jinfeng Liu, Christine Yu, Sarah G. Hymowitz, Jo-Anne Hongo, Anthony Wynshaw-Boris, Paul Polakis, Richard M. Harland, Vishva M. Dixit

Science. Author manuscript; available in PMC 2014 Jul 11.

Published in final edited form as: Science. 2013 Mar 22; 339(6126): 1441–1445. Published online 2013 Jan 31. doi: 10.1126/science.1232253

PMCID:: PMC4094295

Abstract Article PDF–930K

Select item 34472332.

Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family

E. M. Abdalla, H. Morsy

Case Rep Genet. 2011; 2011: 428714. Published online 2011 Nov 2. doi: 10.1155/2011/428714

PMCID:: PMC3447233

Abstract Article PDF–1.1M

Select item 32579583.

Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

Karen Mitchell, James O'Sullivan, Caterina Missero, Ed Blair, Rose Richardson, Beverley Anderson, Dario Antonini, Jeffrey C. Murray, Alan L. Shanske, Brian C. Schutte, Rose-Anne Romano, Satrajit Sinha, Sanjeev S. Bhaskar, Graeme C.M. Black, Jill Dixon, Michael J. Dixon

Am J Hum Genet. 2012 Jan 13; 90(1): 69–75. doi: 10.1016/j.ajhg.2011.11.013

PMCID:: PMC3257958

Abstract Article PDF–660K

Select item 32578954.

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

Ersan Kalay, Orhan Sezgin, Vasant Chellappa, Mehmet Mutlu, Heba Morsy, Hulya Kayserili, Elmar Kreiger, Aysegul Cansu, Bayram Toraman, Ebtesam Mohammed Abdalla, Yakup Aslan, Shiv Pillai, Nurten A. Akarsu

Am J Hum Genet. 2012 Jan 13; 90(1): 76–85. doi: 10.1016/j.ajhg.2011.11.014