Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency

Journal of Experimental Medicine

Volumn 211, Issue 6, 2014, Pages 1079-1091

  Cichocki, Frank ^a,b   Schlums, Heinrich ^a   Li, Hongchuan ^c   Stache, Vanessa ^a   Holmes, Timothy ^a   Lenvik, Todd R ^b   Chiang, Samuel C C ^a   Miller, Jeffrey S ^b   Meeths, Marie ^a   Anderson, Stephen K ^c   Bryceson, Yenan T ^a,d  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b UNIVERSITY OF MINNESOTA   (United States)

^c SAIC FREDERICK INC   (United States)

^d UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

BRG1 PROTEIN; MUNC13 4 PROTEIN; PROTEIN; STAT4 PROTEIN; T LYMPHOCYTE RECEPTOR; TRANSCRIPTION FACTOR ELF 1; UNC13D PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BINDING SITE; CD8+ T LYMPHOCYTE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CONTROLLED STUDY; CYTOTOXIC LYMPHOCYTE; CYTOTOXIC T LYMPHOCYTE; EFFECTOR CELL; EPIGENETICS; FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 3; GENE LOCUS; HEMOPHAGOCYTIC SYNDROME; HISTONE MODIFICATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INTRON; LYMPHOCYTE DIFFERENTIATION; LYMPHOCYTOTOXICITY; MUTATION; NATURAL KILLER CELL; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; PROTEIN EXPRESSION; REGULATORY SEQUENCE; SIGNAL TRANSDUCTION;

BLOTTING, WESTERN; CD8-POSITIVE T-LYMPHOCYTES; CELLS, CULTURED; CYTOTOXICITY, IMMUNOLOGIC; DNA HELICASES; GENE EXPRESSION REGULATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INTRONS; KILLER CELLS, NATURAL; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MEMBRANE PROTEINS; NUCLEAR PROTEINS; POINT MUTATION; PROTEIN BINDING; PROTEIN ISOFORMS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA INTERFERENCE; STAT4 TRANSCRIPTION FACTOR; TRANSCRIPTION FACTORS;

EID: 84901773831     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20131131     Document Type: Article

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