LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

Li, Yun; Pawlik, Barbara; Elcioglu, Nursel; Aglan, Mona; Kayserili, Hülya; Yigit, Gökhan; Percin, Ferda; Goodman, Frances; Nürnberg, Gudrun; Cenani, Asim; Urquhart, Jill; Chung, Boi-Dinh; Ismail, Samira; Amr, Khalda; Aslanger, Ayca D; Becker, Christian; Netzer, Christian; Scambler, Pete; Eyaid, Wafaa; Hamamy, Hanan; Clayton-Smith, Jill; Hennekam, Raoul; Nürnberg, Peter; Herz, Joachim; Temtamy, Samia A; Wollnik, Bernd

Li, Yun; Pawlik, Barbara; Elcioglu, Nursel; Aglan, Mona; Kayserili, Hülya; Yigit, Gökhan; Percin, Ferda; Goodman, Frances; Nürnberg, Gudrun; Cenani, Asim; Urquhart, Jill; Chung, Boi-Dinh; Ismail, Samira; Amr, Khalda; Aslanger, Ayca D; Becker, Christian; Netzer, Christian; Scambler, Pete; Eyaid, Wafaa; Hamamy, Hanan; Clayton-Smith, Jill; Hennekam, Raoul; Nürnberg, Peter; Herz, Joachim; Temtamy, Samia A; Wollnik, Bernd.

Affiliation

Li Y; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.

Am J Hum Genet ; 86(5): 696-706, 2010 May 14.

Article in En | MEDLINE | ID: mdl-20381006

Subject(s)

Kidney Diseases/genetics; LDL-Receptor Related Proteins/genetics; Limb Deformities, Congenital/genetics; Signal Transduction/physiology; beta Catenin/metabolism; Humans; Kidney/metabolism; Kidney Diseases/metabolism; LDL-Receptor Related Proteins/metabolism; Low Density Lipoprotein Receptor-Related Protein-6; Mutation; Oncogenes; Receptors, LDL/antagonists & inhibitors; Syndactyly/genetics; Syndactyly/metabolism; Syndrome

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Signal Transduction / Limb Deformities, Congenital / LDL-Receptor Related Proteins / Beta Catenin / Kidney Diseases Type of study: Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2010 Type: Article Affiliation country: Germany

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