Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

Science Translational Medicine

Volumn 8, Issue 347, 2016, Pages

  Burberry, Aaron ^a,b   Suzuki, Naoki ^a,b   Wang, Jin Yuan ^a,b   Moccia, Rob ^a,b   Mordes, Daniel A ^a,b,c   Stewart, Morag H ^a,d   Suzuki Uematsu, Satomi ^a,b   Ghosh, Sulagna ^a,b   Singh, Ajay ^a,b   Merkle, Florian T ^a,b   Koszka, Kathryn ^a,b   Li, Quan Zhen ^e   Zon, Leonard ^a,f   Rossi, Derrick J ^a,d,f   Trowbridge, Jennifer J ^g   Notarangelo, Luigi D ^d,f   Eggan, Kevin ^a,b  

^a Harvard University   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g JACKSON LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE; 3110043O21RIK PROTEIN, MOUSE; GUANINE NUCLEOTIDE EXCHANGE C9ORF72;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOIMMUNE DISEASE; AUTOIMMUNITY; C9ORF72 GENE; CONTROLLED STUDY; CYTOKINE PRODUCTION; DISEASE ACTIVITY; FATALITY; GENE; GENE FUNCTION; GENE IDENTIFICATION; HOMOLOGOUS RECOMBINATION; LOSS OF FUNCTION MUTATION; MALE; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MORTALITY; MOUSE; NEUTROPHILIA; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPLENOMEGALY; THROMBOCYTOPENIA; ANIMAL; CRISPR CAS SYSTEM; GENETICS; IMMUNOLOGY; LEUKEMIA; METABOLISM; MUTATION; PHYSIOLOGY;

ANIMALS; AUTOIMMUNE DISEASES; AUTOIMMUNITY; C9ORF72 PROTEIN; CRISPR-CAS SYSTEMS; CYTOKINES; LEUKEMIA; MICE; MUTATION; SPLENOMEGALY; THROMBOCYTOPENIA;

EID: 84978287610     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.aaf6038     Document Type: Article

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