首页> Proceedings of the National Academy of Sciences of the United States of America> A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein C.

A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein C.

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第一作者： Huiyan,Huang

第一单位： Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.

作者： Huiyan,Huang ^[1] ; Jiehong,Pan ^[2] ; David R,Spielberg ^[3] ; Neil A,Hanchard ^[4] ; Daryl A,Scott ^[5] ; Lindsay C,Burrage ^[4] ; Hongzheng,Dai ^[4] ; David,Murdock ^[4] ; Jill A,Rosenfeld ^[4] ; Ariz,Mohammad ^[6] ; Tao,Huang ^[2] ; Anika G,Lindsey ^[1] ; Hyori,Kim ^[1] ; Jian,Chen ^[6] ; Avinash,Ramu ^[6] ; Stephanie A,Morrison ^[1] ; Zachary D,Dawson ^[1] ; Alex Z,Hu ^[1] ; Eric,Tycksen ^[7] ; Gary A,Silverman ^[1] ; Dustin,Baldridge ^[8] ; Jennifer A,Wambach ^[1] ; Undiagnosed Diseases Network ^[9] ; Stephen C,Pak ^[10] ; Steven L,Brody ^[11] ; Tim,Schedl

作者单位： Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110. ^[1] Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110. ^[2] Department of Pediatrics, Section of Pulmonary Medicine, Baylor College of Medicine, Houston, TX 77030. ^[3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030. ^[4] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.;Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030. ^[5] Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110. ^[6] Genome Technology Access Center, McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110. ^[7] Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110.;Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110. ^[8] Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110; stephen.pak@wustl.edu brodys@wustl.edu ts@wustl.edu. ^[9] Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110; stephen.pak@wustl.edu brodys@wustl.edu ts@wustl.edu. ^[10] Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110; stephen.pak@wustl.edu brodys@wustl.edu ts@wustl.edu. ^[11]

关键词 Caenorhabditis elegans RAB5B endocytosis surfactant dysfunction disorder surfactant proteins