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

Abstract : 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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https://hal-pasteur.archives-ouvertes.fr/pasteur-03274121
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Submitted on : Tuesday, June 29, 2021 - 6:02:42 PM
Last modification on : Thursday, April 7, 2022 - 10:10:29 AM

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Dominique Simon-Chazottes, Sylvie Tutois, Michael Kuehn, Martin Evans, Franck Bourgade, et al.. Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse. Genomics, Elsevier, 2006, 87 (5), pp.673-677. ⟨10.1016/j.ygeno.2006.01.007⟩. ⟨pasteur-03274121⟩

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