COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Nature Genetics

Volumn 47, Issue 6, 2015, Pages 654-660

  Watkin, Levi B ^a,b   Jessen, Birthe ^c   Wiszniewski, Wojciech ^a   Vece, Timothy J ^a   Jan, Max ^c   Sha, Youbao ^a   Thamsen, Maike ^c   Santos Cortez, Regie L P ^a   Lee, Kwanghyuk ^a   Gambin, Tomasz ^a   Forbes, Lisa R ^a,b   Law, Christopher S ^c   Stray Pedersen, Asbjørg ^a,b   Cheng, Mickie H ^c   Mace, Emily M ^a,b   Anderson, Mark S ^c   Liu, Dongfang ^a,b   Tang, Ling Fung ^d   Nicholas, Sarah K ^a,b   Nahmod, Karen ^a,b   Makedonas, George ^a,b   Canter, Debra L ^a,b   Kwok, Pui Yan ^c,d   Hicks, John ^b   Jones, Kirk D ^c   Penney, Samantha ^a   Jhangiani, Shalini N ^a   Rosenblum, Michael D ^c   Dell, Sharon D ^e   Waterfield, Michael R ^c   Papa, Feroz R ^c   Muzny, Donna M ^a   Zaitlen, Noah ^c   Leal, Suzanne M ^a   Gonzaga Jauregui, Claudia ^a   Boerwinkle, Eric ^a,f,g   Eissa, N Tony ^a   Gibbs, Richard A ^a   Lupski, James R ^a   Orange, Jordan S ^a,b   Shum, Anthony K ^c,d   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f University of Texas Houston Health Science Center ^*  (United States)

^g UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATING TRANSCRIPTION FACTOR 4; ADENOSINE TRIPHOSPHATASE (CALCIUM); ALPHA INTERFERON; AUTOANTIBODY; COAT PROTEIN COMPLEX I; COAT PROTEIN COMPLEX II; COATOMER PROTEIN; COATOMER PROTEIN ALPHA; INTERLEUKIN 10; INTERLEUKIN 12P35; INTERLEUKIN 1BETA; INTERLEUKIN 23P19; INTERLEUKIN 6; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG; VESICULAR TRANSPORT PROTEIN;

ANTIBODY TITER; ANTIGEN PRESENTING CELL; ARTICLE; AUTOIMMUNE LUNG DISEASE; AUTOIMMUNITY; CD4+ T LYMPHOCYTE; CLINICAL ARTICLE; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; EXOME; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GOLGI COMPLEX; HUMAN; HUMAN TISSUE; INTERSTITIAL LUNG DISEASE; INTRACELLULAR TRANSPORT; MALE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; RHEUMATOID ARTHRITIS; TH17 CELL; UPREGULATION; AMINO ACID SEQUENCE; ARTHRITIS; AUTOIMMUNE DISEASE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; HEK293 CELL LINE; INFANT; METABOLISM; MOLECULAR GENETICS; PEDIGREE; PRESCHOOL CHILD; PROTEIN TRANSPORT;

AMINO ACID SEQUENCE; ARTHRITIS; AUTOIMMUNE DISEASES; CHILD, PRESCHOOL; COATOMER PROTEIN; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GOLGI APPARATUS; HEK293 CELLS; HUMANS; INFANT; LOD SCORE; LUNG DISEASES, INTERSTITIAL; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PROTEIN TRANSPORT;

EID: 84930208925     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3279     Document Type: Article

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