Rat Model for Dominant Dystrophic Epidermolysis Bullosa: Glycine Substitution Reduces Collagen VII Stability and Shows Gene-Dosage Effect

PLoS ONE

Volumn 8, Issue 5, 2013, Pages

  Nyström, Alexander ^a   Buttgereit, Jens ^b,c   Bader, Michael ^b   Shmidt, Tatiana ^b,c   Özcelik, Cemil ^b,c,f   Hausser, Ingrid ^d   Bruckner Tuderman, Leena ^a,e   Kern, Johannes S ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c Experimental and Clinical Research Center ECRC   (Germany)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

^f Institut für Radiologie   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; COLLAGEN TYPE 7; GLYCINE; MESSENGER RNA; MUTANT PROTEIN;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BLISTER; COLLAGEN TYPE 7 GENE; CONTROLLED STUDY; DISEASE SEVERITY; DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA; GENE DOSAGE; GENE EXPRESSION REGULATION; GENE MUTATION; GENODERMATOSIS; HETEROZYGOTE; HOMOZYGOTE; NAIL DYSTROPHY; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN STABILITY; RAT; SCAR FORMATION; SKIN FRAGILITY;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; COLLAGEN TYPE VII; DISEASE MODELS, ANIMAL; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE DOSAGE; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; HUMANS; MOLECULAR SEQUENCE DATA; PROTEIN STABILITY; RATS; SKIN;

EID: 84878151962     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0064243     Document Type: Article

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