Article
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Nature communications - 20 Sept 2021
Haro Endika, Petit Florence, Pira Charmaine U, Spady Conor D, Lucas-Toca Sara, Yorozuya Lauren I, Gray Austin L, Escande Fabienne, Jourdain Anne-Sophie, Nguyen Andy, Fellmann Florence, Good Jean-Marc, Francannet Christine, Manouvrier-Hanu Sylvie, Ros Marian A, Oberg Kerby C
Abstract excerpt
LMX1B haploinsufficiency causes Nail-patella syndrome (NPS; MIM 161200), characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease, and glaucoma. Accordingly in mice, Lmx1b has been shown to play crucial roles in the development of the limb, kidney and eye. Although one functional allele of Lmx1b appears adequate for development, Lmx1b null mice display ventral-ventral distal limbs with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.