Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro

Experimental Dermatology

Volumn 12, Issue 2, 2003, Pages 191-197

  Rouan, F ^a   Lo, C W ^b,c   Fertala, A ^a   Wahl, M ^a   Jost, M ^a   Rodeck, U ^a   Uitto, J ^a   Richard, G ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

Author keywords

Connexin; Erythrokeratodermia variabilis; Gap junctions; Intracellular calcium; Mutation

Indexed keywords

CALCIUM; CONNEXIN 31; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID ANALYSIS; ARTICLE; BIOGENESIS; CALCIUM CELL LEVEL; CELL JUNCTION; CELL MEMBRANE; CELL SURFACE; COMPARATIVE STUDY; CONTROLLED STUDY; CYTOPLASM; G12D GENE; GEL PERMEATION CHROMATOGRAPHY; GENE CONSTRUCT; GENE EXPRESSION; GENE SEQUENCE; GENETIC POLYMORPHISM; GJB3 GENE; HELA CELL; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; IN VITRO STUDY; KERATODERMA; MISSENSE MUTATION; MUTANT; OLIGOMERIZATION; PHENOTYPE; PROTEIN FUNCTION; PROTEIN SYNTHESIS INHIBITION; PROTEIN TRANSPORT; R32W GENE; WILD TYPE;

BASE SEQUENCE; CALCIUM SIGNALING; CONNEXINS; DNA, COMPLEMENTARY; GAP JUNCTIONS; HELA CELLS; HUMANS; MUTATION, MISSENSE; RECOMBINANT PROTEINS; SKIN DISEASES, GENETIC; TRANSFECTION; VARIATION (GENETICS);

EID: 0037728362     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0625.2003.120210.x     Document Type: Article

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