Mutated Desmoglein-2 Proteins are Incorporated into Desmosomes and Exhibit Dominant-Negative Effects in Arrhythmogenic Right Ventricular Cardiomyopathy

Human Mutation

Volumn 34, Issue 5, 2013, Pages 697-705

  Rasmussen, Torsten B ^a   Palmfeldt, Johan ^a   Nissen, Peter H ^a   Magnoni, Raffaela ^a   Dalager, Søren ^a   Jensen, Uffe B ^a   Kim, Won Y ^a   Heickendorff, Lene ^a   Mølgaard, Henning ^a   Jensen, Henrik K ^a   Baandrup, Ulrik T ^b   Bross, Peter ^a   Mogensen, Jens ^a,c  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AALBORG UNIVERSITY   (Denmark)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Arrhythmogenic cardiomyopathy; Chromatography; Desmoglein 2; DSG2; Mass spectrometry

Indexed keywords

DESMOGLEIN 2;

ARTICLE; DESMOSOME; FEMALE; GENE MUTATION; HEART MUSCLE BIOPSY; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECESSIVE INHERITANCE; TANDEM MASS SPECTROMETRY; WESTERN BLOTTING; WILD TYPE;

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; BLOTTING, WESTERN; CELLS, CULTURED; CHROMATOGRAPHY, LIQUID; DESMOGLEIN 2; FEMALE; HUMANS; MALE; MASS SPECTROMETRY; MUTATION, MISSENSE; PEDIGREE;

EID: 84876336844     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22289     Document Type: Article

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