Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Nature Genetics

Volumn 45, Issue 10, 2013, Pages 1244-1248

  Samuelov, Liat ^a   Sarig, Ofer ^a   Harmon, Robert M ^b   Rapaport, Debora ^c   Ishida Yamamoto, Akemi ^d   Isakov, Ofer ^c   Koetsier, Jennifer L ^b   Gat, Andrea ^a   Goldberg, Ilan ^a   Bergman, Reuven ^e,f   Spiegel, Ronen ^f,g   Eytan, Ori ^a,c   Geller, Shamir ^a   Peleg, Sarit ^f,g   Shomron, Noam ^c   Goh, Christabelle S M ^h   Wilson, Neil J ^h   Smith, Frances J D ⁱ   Pohler, Elizabeth ^j   Simpson, Michael A ^h   McLean, W H Irwin ⁱ   Irvine, Alan D ^h   Horowitz, Mia ^j,k   McGrath, John A ^c   Green, Kathleen J ^b   Sprecher, Eli ^a,c   more..

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b NORTHWESTERN UNIVERSITY   (United States)

^c TEL AVIV UNIVERSITY   (Israel)

^d ASAHIKAWA MEDICAL COLLEGE   (Japan)

^e Rambam Health Care Campus ^*  (Israel)

^f TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^g HAEMEK MEDICAL CENTER   (Israel)

^h UNIVERSITY OF DUNDEE   (United Kingdom)

ⁱ KING'S COLLEGE LONDON   (United Kingdom)

^j OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^k TRINITY COLLEGE DUBLIN   (Ireland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CALNEXIN; DESMOGLEIN 1; KERATIN; MITOGEN ACTIVATED PROTEIN KINASE 3;

ACANTHOLYSIS; ALLERGY; ARTICLE; ATOPY; CASE REPORT; CELL ADHESION; CHILD; CYTOKINE PRODUCTION; CYTOSKELETON; DERMATITIS; DESMOSOME; DESQUAMATION; ENTEROPATHY; FEMALE; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; KERATINOCYTE; LOSS OF FUNCTION MUTATION; MALABSORPTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; PSORIASIS; SAM SYNDROME; SCHOOL CHILD; SKIN ALLERGY; WASTING SYNDROME;

CHILD; CHILD, PRESCHOOL; DERMATITIS; DESMOGLEIN 1; FEMALE; HUMANS; HYPERSENSITIVITY; INFANT; MALE; MUTATION; SEVERITY OF ILLNESS INDEX; SYNDROME; WASTING SYNDROME;

EID: 84885019283     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2739     Document Type: Article

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