Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity

Human Molecular Genetics

Volumn 23, Issue 15, 2014, Pages 3907-3922

  Odorisio, Teresa ^a   di Salvio, Michela ^a   Orecchia, Angela ^a   di Zenzo, Giovanni ^a   Piccinni, Eugenia ^a   Cianfarani, Francesca ^a   Travaglione, Antonella ^b   Uva, Paolo ^b   Bellei, Barbara ^c   Conti, Andrea ^d   Zambruno, Giovanna ^a   Castiglia, Daniele ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b CENTER FOR ADVANCED STUDIES   (Italy)

^c SAN GALLICANO DERMATOLOGICAL INSTITUTE   (Italy)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SMOOTH MUSCLE ACTIN; BONE MORPHOGENETIC PROTEIN 2; COLLAGEN TYPE 1; COLLAGEN TYPE 7; DECORIN; INTERLEUKIN 6; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE 3; MITOGEN ACTIVATED PROTEIN KINASE P38; MONOCYTE CHEMOTACTIC PROTEIN 1; PLASMINOGEN ACTIVATOR INHIBITOR 1; SMAD PROTEIN; SMAD2 PROTEIN; STROMELYSIN; TRANSCRIPTION FACTOR ZEB1; TRANSFORMING GROWTH FACTOR BETA; ACTA2 PROTEIN, HUMAN; ACTIN; CCL2 PROTEIN, HUMAN; COL7A1 PROTEIN, HUMAN;

ADULT; ARTICLE; BIOLOGICAL ACTIVITY; CASE REPORT; CELL ACTIVATION; CELL FUNCTION; CLINICAL FEATURE; DISEASE SEVERITY; ENZYME INHIBITION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FIBROBLAST; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; MALE; MODIFIER GENE; MONOZYGOTIC TWINS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA; SIGNAL TRANSDUCTION; SKIN MANIFESTATION; TWIN DISCORDANCE; GENE EXPRESSION REGULATION; GENETIC HETEROGENEITY; GENETICS; GENOTYPE; METABOLISM; PATHOLOGY; PHENOTYPE; RECESSIVE GENE; SEVERITY OF ILLNESS INDEX; SKIN;

ACTINS; ADULT; CHEMOKINE CCL2; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FIBROBLASTS; GENE EXPRESSION REGULATION; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INTERLEUKIN-6; MALE; MITOGEN-ACTIVATED PROTEIN KINASES; PHENOTYPE; PLASMINOGEN ACTIVATOR INHIBITOR 1; SEVERITY OF ILLNESS INDEX; SIGNAL TRANSDUCTION; SKIN; SMAD PROTEINS; TRANSFORMING GROWTH FACTOR BETA; TWINS, MONOZYGOTIC;

EID: 84904023423     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu102     Document Type: Article

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