TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling
Author:
Affiliation:
1. Institute of BiophysicsConsiglio Nazionale delle Ricerche Genova Italy
Funder
Compagnia di San Paolo
Fondazione Telethon
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24006
Reference56 articles.
1. [Familial cases of a new systemic bone disease, hereditary gnatho‐diaphyseal sclerosis];Akasaka Y.;Nihon Seikeigeka Gakkai zasshi,1969
2. Cryo-EM structures and functional characterization of the murine lipid scramblase TMEM16F
3. Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies
4. Lifting the veils on TMEM16E function
5. Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies
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