IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases

Journal of Investigative Dermatology

Volumn 136, Issue 9, 2016, Pages 1811-1819

  Tauber, Marie ^a   Bal, Elodie ^a   Pei, Xue Yuan ^b   Madrange, Marine ^a   Khelil, Amel ^c   Sahel, Houria ^d   Zenati, Akila ^d   Makrelouf, Mohamed ^d   Boubridaa, Khaled ^d   Chiali, Amel ^c   Smahi, Naima ^c   Otsmane, Farida ^d   Bouajar, Bakar ^d   Marrakchi, Slaheddine ^e   Turki, Hamida ^e   Bourrat, Emmanuelle ^f   Viguier, Manuelle ^f,g   Hamel, Yamina ^a   Bachelez, Hervé ^a,f,g   Smahi, Asma ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c CHU Oran   (Algeria)

^d CHU Mustapha   (Algeria)

^e HEDI CHAKER HOSPITAL   (Tunisia)

^f SAINT LOUIS HOSPITAL   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOKINE; GLUTAMINE; GLYCINE; HISTONE; INTERLEUKIN 36RN; INTERLEUKIN 8; LEUCINE; PROLINE; SERINE; THREONINE; UNCLASSIFIED DRUG; IL36RN PROTEIN, HUMAN; INTERLEUKIN DERIVATIVE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CYTOKINE PRODUCTION; FEMALE; FRAMESHIFT MUTATION; FUNCTIONAL DISEASE; GENE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOTE; HUMAN; HUMAN CELL; INFANT; MALE; MONOCYTE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PUSTULAR PSORIASIS; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS; STOP CODON; DISEASE COURSE; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; PROGNOSIS; PSORIASIS; RISK ASSESSMENT;

ADULT; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; FEMALE; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INTERLEUKINS; MALE; MUTATION; PHENOTYPE; PROGNOSIS; PSORIASIS; RISK ASSESSMENT;

EID: 84992520983     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2016.04.038     Document Type: Article

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