Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: Evidence for a temperature-sensitive phenotype

Human Molecular Genetics

Volumn 15, Issue 21, 2006, Pages 3083-3097

  Oji, Vinzenz ^a   Hautier, Juliette Mazereeuw ^b,h   Ahvazi, Bijan ^c   Hausser, Ingrid ^d   Aufenvenne, Karin ^a   Walker, Tatjana ^a   Seller, Natalia ^a   Steijlen, Peter M ^e   Küster, Wolfgang ^f   Hovnanian, Alain ^g,h   Hennies, Hans Christian ⁱ   Traupe, Heiko ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b CHU RANGUEIL   (France)

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

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e MAASTRICHT UNIVERSITY   (Netherlands)

^f TOMESA Clinic of Dermatology   (Germany)

^g INSERM   (France)

^h UNIVERSITÉ DE TOULOUSE   (France)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; CATHEPSIN D; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 1; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 3; TRANSFERASE; TYROSINE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION FUNCTION; ENZYME ACTIVITY; ENZYME LOCALIZATION; ENZYME STRUCTURE; EPIDERMIS; FEMALE; FROZEN SECTION; HUMAN; HUMAN TISSUE; HYDROPHOBICITY; ICHTHYOSIS; INFANT; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN TEMPERATURE; TEMPERATURE SENSITIVITY; THERMOGRAPHY; TISSUE DISTRIBUTION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CODON, NONSENSE; FEMALE; HUMANS; ICHTHYOSIS; INFANT; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SKIN; TEMPERATURE; TRANSGLUTAMINASES;

EID: 33750220685     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl249     Document Type: Article

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