Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation

Biochemical and Biophysical Research Communications

Volumn 394, Issue 4, 2010, Pages 909-914

  Terrinoni, Alessandro ^a   Codispoti, Andrea ^a   Serra, Valeria ^a   Didona, Biagio ^a   Bruno, Ernesto ^b   Nisticò, Robert ^c,d   Giustizieri, Michela ^d   Alessandrini, Marco ^b   Campione, Elena ^b   Melino, Gerry ^a,e  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c UNIVERSITY OF CALABRIA   (Italy)

^d IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^e UNIVERSITY OF LEICESTER   (United Kingdom)

Author keywords

Cell death; Connexin; Deafness; Gap junctions; KID Syndrome; Mutations

Indexed keywords

CALCIUM; CONNEXIN 26;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM CELL LEVEL; CELL DEATH; CELL VIABILITY; CHANNEL GATING; CONFOCAL MICROSCOPY; DEREGULATION; ECTODERMAL DYSPLASIA; FLUORESCENCE MICROSCOPY; GENE MUTATION; HUMAN; HUMAN TISSUE; IN VITRO STUDY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SYNDROME KID; WESTERN BLOTTING;

APOPTOSIS; CALCIUM; CELLS, CULTURED; CONNEXINS; ECTODERMAL DYSPLASIA; HEARING LOSS, SENSORINEURAL; HUMANS; ICHTHYOSIS; ION CHANNEL GATING; KERATOSIS; MUTATION; SYNDROME;

EID: 77950945643     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2010.03.073     Document Type: Article

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