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

被引：44

作者：

Calender, Alain ^{[1
,2
]}

Lim, Clarice X. ^{[3
]}

Weichhart, Thomas ^{[3
]}

Buisson, Adrien ^{[1
]}

Besnard, Valerie ^{[4
]}

Rollat-Farnier, Pierre Antoine ^{[5
]}

Bardel, Claire ^{[5
,6
]}

Roy, Pascal ^{[5
,6
]}

Cottin, Vincent ^{[7
]}

Devouassoux, Gilles ^{[8
]}

Finat, Amelie ^{[1
]}

Pinson, Stephane ^{[1
]}

Lebecque, Serge ^{[9
]}

Nunes, Hilario ^{[10
]}

Israel-Biet, Dominique ^{[11
,12
]}

Bentaher, Abderazzaq ^{[2
]}

Valeyre, Dominique ^{[13
]}

Pacheco, Yves ^{[2
]}

机构：

[1] Univ Hosp, Hosp Civils Lyon, Dept Mol & Med Genet, Bron, France

[2] Lyon 1 Claude Bernard Univ, Inflammat & Immun Resp Epithelium, EA 7426 PI3, Pierre Benite, France

[3] Med Univ Vienna, Inst Med Genet, Ctr Pathobiochem & Genet, Vienna, Austria

[4] Univ Sorbonne Paris Cite, Lung & Hypoxia, EA 2363, Paris, France

[5] Univ Hosp, Hosp Civils Lyon, Dept Biostat & Bioinformat, Lyon, France

[6] Univ Lyon 1, CNRS, UMR 5558, Lab Biometry & Evolutionary Biol, Villeurbanne, France

[7] Louis Pradel Hosp, Hosp Civils Lyon, Dept Pulmonol, Lyon, France

[8] Croix Rousse Hosp, Hosp Civils Lyon, Dept Pulmonol, Lyon, France

[9] Canc Res Ctr, CNRS 5286, INSERM, U1052, Lyon, France

[10] Univ Paris 13, Avicenne Hosp, Dept Pulmonol, EA 2363, Bobigny, France

[11] Hop Europeen Georges Pompidou, Dept Pulmonol, Paris, France

[12] Univ Paris 13, INSERM, U1272, Bobigny, France

[13] Avicenne Hosp, AP HP, Bobigny, France

来源：

EUROPEAN RESPIRATORY JOURNAL | 2019年 / 54卷 / 02期

基金：

奥地利科学基金会;

关键词：

GRANULOMA-FORMATION; PHENOTYPES;

D O I：

10.1183/13993003.00430-2019

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

引用

页数：4

共 18 条

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