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Publication : Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse.

First Author  Simon-Chazottes D Year  2006
Journal  Genomics Volume  87
Issue  5 Pages  673-7
PubMed ID  16517118 Mgi Jnum  J:108168
Mgi Id  MGI:3623169 Doi  10.1016/j.ygeno.2006.01.007
Citation  Simon-Chazottes D, et al. (2006) Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse. Genomics 87(5):673-7
abstractText  Positional cloning of two recessive mutations of the mouse that cause polysyndactyly (dan and mdig-Chr 2) confirmed that the gene encoding MEGF7/LRP4, a member of the low-density lipoprotein receptor family, plays an essential role in the process of digit differentiation. Pathologies observed in the mutant mice provide insight into understanding the function(s) of LRP4 as a negative regulator of the Wnt-beta-catenin signaling pathway and may help identify the genetic basis for common human disorders with similar phenotypes.
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