Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies

Journal of Cell Science

Volumn 127, Issue 8, 2014, Pages 1751-1764

  Berger, Amy C ^a   Kelly, John J ^a   Lajoie, Patrick ^a   Shao, Qing ^a   Laird, Dale W ^a  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

Bart Pumphrey syndrome; Clouston syndrome; Connexin; Gap junction; Hearing loss; Hemichannel; Keratitis ichthyosis deafness syndrome; Mutation; Skin disease; Vohwinkel syndrome

Indexed keywords

CASPASE 3; CONNEXIN 26; CONNEXIN 30; CONNEXIN 43; X BOX BINDING PROTEIN 1; CONNEXIN 43 PROTEIN, RAT; GAP JUNCTION PROTEIN; GJB6 PROTEIN, MOUSE;

ANIMAL TISSUE; APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BART PUMPHREY SYNDROME; CELL COMMUNICATION; CELL DEATH; CELL SURFACE; DISEASE COURSE; ENDOPLASMIC RETICULUM; GAP JUNCTION; GOLGI COMPLEX; HEARING IMPAIRMENT; HIDROTIC ECTODERMAL DYSPLASIA; ICHTHYOSIS; KERATINOCYTE; KERATITIS; KERATODERMA HEREDITARIUM MUTILANS; LOSS OF FUNCTION MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN CLEAVAGE; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RAT; SKIN DISEASE; SYNDROME KID; ANIMAL; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HELA CELL LINE; HUMAN; METABOLISM; MISSENSE MUTATION; MOUSE;

ANIMALS; APOPTOSIS; CELL COMMUNICATION; CONNEXIN 43; CONNEXINS; DEAFNESS; GAP JUNCTIONS; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HUMANS; KERATINOCYTES; MICE; MUTATION, MISSENSE; RATS; SKIN DISEASES;

EID: 84898895920     PISSN: 00219533     EISSN: 14779137     Source Type: Journal    
DOI: 10.1242/jcs.138230     Document Type: Article

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