Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis

著者: Alain Calender, Clarice X. Lim, Thomas Weichhart, Adrien Buisson, Valérie Besnard, Pierre Antoine Rollat‐Farnier, Claire Bardel, Pascal Roy, Vincent Cottin, Gilles Devouassoux, Amélie Finat, S. Pinson, Serge Lebecque, Hilario Nunès, Dominique Israël‐Biet, Abderrazzak Bentaher, Dominique Valeyre, Yves Pachéco - European Respiratory Journal 2019 被引用: 59

Sarcoidosis is a multifactorial disease induced by environmental and genetic factors. Whole exome sequencing in 5 familial cases of the disease suggest that genetic defects in Rac1 and mTor functional hubs may be relevant to sarcoidosis pathogenesis. http://bit.ly/2xooHx3