AP1S3 Mutations Cause Skin Autoinflammation by Disrupting Keratinocyte Autophagy and Up-Regulating IL-36 Production

Journal of Investigative Dermatology

Volumn 136, Issue 11, 2016, Pages 2251-2259

  Mahil, Satveer K ^a   Twelves, Sophie ^a   Farkas, Katalin ^b   Setta Kaffetzi, Niovi ^a   Burden, A David ^c   Gach, Joanna E ^d   Irvine, Alan D ^e   Képíró, László ^b   Mockenhaupt, Maja ^f   Oon, Hazel H ^g   Pinner, Jason ^h   Ranki, Annamari ⁱ   Seyger, Marieke M B ^j   Soler Palacin, Pere ^k   Storan, Eoin R ^l   Tan, Eugene S ^g   Valeyrie Allanore, Laurence ^m   Young, Helen S ⁿ   Trembath, Richard C ^a   Choon, Siew Eng ^o   Szell, Marta ^b   Bata Csorgo, Zsuzsanna ^b   Smith, Catherine H ^a   Di Meglio, Paola ^p   Barker, Jonathan N ^a   Capon, Francesca ^a   more..

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF SZEGED   (Hungary)

^c UNIVERSITY OF GLASGOW   (United Kingdom)

^d BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^e OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^f UNIVERSITY OF FREIBURG   (Germany)

^g NATIONAL SKIN CENTRE   (Singapore)

^h ROYAL PRINCE ALFRED HOSPITAL   (Australia)

ⁱ HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^l UNIVERSITY HOSPITAL GALWAY   (Ireland)

^m HENRI MONDOR HOSPITAL   (France)

ⁿ UNIVERSITY OF MANCHESTER   (United Kingdom)

^o HOSPITAL SULTANAH AMINAH   (Malaysia)

^p THE FRANCIS CRICK INSTITUTE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AP1S3 PROTEIN; CYTOKINE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN 1; INTERLEUKIN 36; INTERLEUKIN 36 ALPHA; PROTEIN; PROTEIN P62; UNCLASSIFIED DRUG; DNA; INTERLEUKIN 36, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; AGED; ALLELE; ARTICLE; AUTOINFLAMMATORY DISEASE; AUTOPHAGY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOKINE PRODUCTION; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; KERATINOCYTE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PUSTULAR PSORIASIS; SIGNAL TRANSDUCTION; UPREGULATION; BIOSYNTHESIS; CELL LINE; DNA MUTATIONAL ANALYSIS; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; PSORIASIS; TRANSCRIPTION INITIATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGED; AUTOPHAGY; CELL LINE; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INTERLEUKIN-1; KERATINOCYTES; MIDDLE AGED; MUTATION; PSORIASIS; SIGNAL TRANSDUCTION; TRANSCRIPTIONAL ACTIVATION; UP-REGULATION;

EID: 84994745820     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2016.06.618     Document Type: Article

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