Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss

Biochemical and Biophysical Research Communications

Volumn 395, Issue 1, 2010, Pages 25-30

  Terrinoni, Alessandro ^a   Codispoti, Andrea ^a   Serra, Valeria ^a   Bruno, Ernesto ^a   Didona, Biagio ^b   Paradisi, Mauro ^b   Nisticò, Steven ^a   Campione, Elena ^a   Napolitano, Bianca ^a   Diluvio, Laura ^a   Melino, Gerry ^a,c  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^c MEDICAL RESEARCH COUNCIL   (United Kingdom)

Author keywords

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

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ADULT; ALOPECIA; ARTICLE; AUDIOGRAPHY; AUDIOMETRY; AUTOSOMAL DOMINANT DISORDER; AXILLA; BLEPHARITIS; CASE REPORT; CELL DEATH; CELL INFILTRATION; CHANNEL GATING; CHEEK; CHILD; CONJUNCTIVITIS; CORNEA TRANSPLANTATION; CORNEA ULCER; DRY EYE; ECTROPION; ELBOW; EPIDERMIS; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; FOOT SOLE; GENE AMPLIFICATION; GENE EXPRESSION; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HAND PALM; HEARING LOSS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERKERATOSIS; KERATITIS; KERATODERMA; KNEE; MALE; MOLECULAR CLONING; MONONUCLEAR CELL; MOUTH; NOSE; PATHOGENESIS; PERCEPTION DEAFNESS; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SKIN BIOPSY; STRATUM CORNEUM; SYNDROME KID; XERODERMA; ZYGOMA; APOPTOSIS; ECTODERMAL DYSPLASIA; GENETICS; ICHTHYOSIS; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; SYNDROME;

APOPTOSIS; CHILD; CONNEXINS; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FEMALE; HEARING LOSS; HUMANS; ICHTHYOSIS; MALE; PROTEIN TRANSPORT; SYNDROME; YOUNG ADULT;

EID: 77951911844     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2010.03.098     Document Type: Article

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