Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: Unraveling the peeling skin disease

American Journal of Human Genetics

Volumn 87, Issue 2, 2010, Pages 274-281

  Oji, Vinzenz ^a   Eckl, Katja Martina ^b,c   Aufenvenne, Karin ^a   Nätebus, Marc ^b   Tarinski, Tatjana ^a   Ackermann, Katharina ^d   Seller, Natalia ^a   Metze, Dieter ^a   Nürnberg, Gudrun ^b   Fölster Holst, Regina ^e   Schäfer Korting, Monika ^d   Hausser, Ingrid ^f   Traupe, Heiko ^a   Hennies, Hans Christian ^b,c  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d FREIE UNIVERSITÄT BERLIN   (Germany)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^f UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CELL ADHESION MOLECULE; CORNEODESMOSIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATOPY; CASE REPORT; CHILD; CONSANGUINITY; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; FOOD ALLERGY; GENETIC ASSOCIATION; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; MALE; NONSENSE MUTATION; PEELING SKIN DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PRURITUS; SKIN BARRIER DEFECT; SKIN DISEASE;

BASE SEQUENCE; CHILD; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; EPIDERMIS; FAMILY; GLYCOPROTEINS; HUMANS; MALE; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; PEDIGREE; PRURITUS; SKIN;

MURINAE;

EID: 77955577355     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.07.005     Document Type: Article

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