Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Nature Genetics

Volumn 48, Issue 1, 2015, Pages 67-73

  Zhou, Qing ^a   Wang, Hongying ^a   Schwartz, Daniella M ^b   Stoffels, Monique ^a   Hwan Park, Yong ^a   Zhang, Yuan ^c   Yang, Dan ^d   Demirkaya, Erkan ^e   Takeuchi, Masaki ^a   Tsai, Wanxia Li ^b   Lyons, Jonathan J ^c   Yu, Xiaomin ^c   Ouyang, Claudia ^b   Chen, Celeste ^a   Chin, David T ^a   Zaal, Kristien ^b   Chandrasekharappa, Settara C ^a   Hanson, Eric P ^b   Yu, Zhen ^d   Mullikin, James C ^a   Hasni, Sarfaraz A ^b   Wertz, Ingrid E ^f   Ombrello, Amanda K ^a   Stone, Deborah L ^a   Hoffmann, Patrycja ^a   Jones, Anne ^a   Barham, Beverly K ^a   Leavis, Helen L ^g   Van Royen Kerkof, Annet ^g   Sibley, Cailin ^h   Batu, Ezgi D ⁱ   Gül, Ahmet ^j   Siegel, Richard M ^b   Boehm, Manfred ^d   Milner, Joshua D ^c   Ozen, Seza ⁱ   Gadina, Massimo ^b   Chae, JaeJin ^a   Laxer, Ronald M ^k   Kastner, Daniel L ^a   Aksentijevich, Ivona ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^c NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^d NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^e GULHANE SCHOOL OF MEDICINE   (Turkey)

^f GENENTECH INC   (United States)

^g UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁱ HACETTEPE UNIVERSITY   (Turkey)

^j ISTANBUL UNIVERSITY   (Turkey)

^k HOSPITAL FOR SICK CHILDREN   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DEUBIQUITINASE; I KAPPA B ALPHA; I KAPPA B KINASE GAMMA; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; TRANSCRIPTION FACTOR RELA; TUMOR NECROSIS FACTOR; TUMOR NECROSIS FACTOR ALPHA INDUCED PROTEIN 3; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 6; UNCLASSIFIED DRUG; AGFG1 PROTEIN, HUMAN; DNA BINDING PROTEIN; I KAPPA B; I KAPPA B KINASE; I KAPPA B KINASE ALPHA; IKBKG PROTEIN, HUMAN; NFKBIA PROTEIN, HUMAN; NUCLEAR PROTEIN; NUCLEOPORIN; RNA BINDING PROTEIN; SIGNAL PEPTIDE; TNFAIP3 PROTEIN, HUMAN;

ARTICLE; AUTOINFLAMMATORY DISEASE; CAUCASIAN; CLINICAL ARTICLE; ENZYME ACTIVITY; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE MUTATION; GENE OVEREXPRESSION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; IRIDOCYCLITIS; LOSS OF FUNCTION MUTATION; MONOCYTE; MOUTH ULCER; PHENOTYPE; POLYARTHRITIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; SYSTEMIC LUPUS ERYTHEMATOSUS; VASCULITIS; CLINICAL TRIAL; FEMALE; GENETICS; HEREDITARY PERIODIC FEVER; MALE; METABOLISM; MULTICENTER STUDY; MUTATION; ONSET AGE; PEDIGREE;

AGE OF ONSET; DNA-BINDING PROTEINS; FEMALE; HAPLOINSUFFICIENCY; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; I-KAPPA B KINASE; I-KAPPA B PROTEINS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; NF-KAPPA B; NF-KAPPAB INHIBITOR ALPHA; NUCLEAR PORE COMPLEX PROTEINS; NUCLEAR PROTEINS; PEDIGREE; RNA-BINDING PROTEINS; TNF RECEPTOR-ASSOCIATED FACTOR 6; TUMOR NECROSIS FACTOR ALPHA-INDUCED PROTEIN 3;

EID: 84949599562     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3459     Document Type: Article

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