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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
American Journal of Human Genetics, Volume 86, No. 5, Year 2010
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Description
Cenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal limb development. It is characterized mainly by syndactyly and/or oligodactyly and is now shown to be commonly associated with kidney anomalies. We used a homozygosity-mapping approach to map the CLS1 locus to chromosome 11p11.2-q13.1. By sequencing candidate genes, we identified recessive LRP4 mutations in 12 families with CLS. LRP4 belongs to the low-density lipoprotein (LDL) receptor-related proteins (LRPs), which are essential for various developmental processes. LRP4 is known to antagonize LRP6-mediated activation of canonical Wnt signaling, a function that is lost by the identified mutations. Our findings increase the spectrum of congenital anomalies associated with abnormal lipoprotein receptor-dependent signaling. © 2010 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC2869043/bin/mmc1.pdf
Authors & Co-Authors
Li, Yun
Germany, Koln
Universität zu Köln
Pawlik, Barbara
Germany, Koln
Universität zu Köln
Elçioǧlu, Nursel H.
Turkey, Istanbul
Marmara Üniversitesi Tip Fakültesi
Aglan, Mona Sabry
Egypt, Giza
National Research Centre
Kayserili, Hülya U.
Turkey, Istanbul
İstanbul Tıp Fakültesi
Yigit, Gökhan
Germany, Koln
Universität zu Köln
Percin, Ferda
Turkey, Ankara
Gazi Üniversitesi
Goodman, Frances
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Nürnberg, Gudrun
Germany, Koln
Universität zu Köln
Germany, Koln
Medizinische Fakultät
Cenani, Asim
Turkey, Istanbul
Istanbul Üniversitesi
Urquhart, Jill E.
United Kingdom, London
St Mary's Hospital
Chung, Boi Dinh
Germany, Koln
Universität zu Köln
Ismail, Samira I.
Egypt, Giza
National Research Centre
Amr, Khalda Sayed
Egypt, Giza
National Research Centre
Aslanger, Ayça Dilruba
Turkey, Istanbul
İstanbul Tıp Fakültesi
Becker, Christian F.W.
Germany, Koln
Medizinische Fakultät
Germany, Koln
Universität zu Köln
Netzer, Christian
Germany, Koln
Universität zu Köln
Scambler, Peter James
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Eyaid, Wafaa M.
Saudi Arabia, Riyadh
King Fahad National Guard Hospital
Hamamy, Hanan Ali
Switzerland, Geneva
Hôpitaux Universitaires de Genève
Clayton-Smith, Jill
United Kingdom, London
St Mary's Hospital
Hennekam, Raoul C.M.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
Nürnberg, Peter
Germany, Koln
Universität zu Köln
Germany, Koln
Medizinische Fakultät
Herz, Joachim
United States, Dallas
Ut Southwestern Medical School
Temtamy, Samia Ali Li
Egypt, Giza
National Research Centre
Wollnik, Bernd
Germany, Koln
Universität zu Köln
Statistics
Citations: 165
Authors: 26
Affiliations: 13
Identifiers
Doi:
10.1016/j.ajhg.2010.03.004
ISSN:
00029297
Research Areas
Genetics And Genomics