Connexin 43 (CX43)
ODDD; GJAL; GJA1; GJ-A1; Gap junction 43 kDa heart protein; Gap Junction Protein Alpha 1; Oculodentodigital Dysplasia; Syndactyly Type III
Connexin 43 is a connexin gap junction found in several organs and cell types, but is most often found in the heart. Current data suggest Cx43 is essential for the development of normal cardiac architecture and ventricular conduction. Two members of the connexin gene family, connexins 43 and 32, or GJB1, are abundantly expressed in the heart and liver, respectively. GAP43-like immunoreactivity in rat is mainly present in sympathetic and sensory nerve fibers as well as in perivascular nerve terminals. This peptide is axonally transported predominantly in sensory and adrenergic axonsSohl et al. (2003) stated that the mouse and human CX43 share 97% amino acid identity. Northern blot analysis detected variable expression of a 3.0-kb CX43 transcript in both mouse and human, with highest expression in heart.
Organism species: Homo sapiens (Human)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W484Hu01 | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | MW484Hu22 | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
PW484Hu01 | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | KEW484Hu | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Mus musculus (Mouse)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W484Mu01 | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
PW484Mu01 | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | KEW484Mu | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Rattus norvegicus (Rat)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W484Ra01 | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | MW484Ra21 | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
PW484Ra01 | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | KEW484Ra | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Canis familiaris; Canine (Dog)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W484Ca01 | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
PW484Ca01 | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Sus scrofa; Porcine (Pig)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W484Po01 | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
PW484Po01 | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Bos taurus; Bovine (Cattle)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W484Bo01 | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
PW484Bo01 | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Rhesus monkey (Simian)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W484Si01 | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
PW484Si01 | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Chicken (Gallus)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W484Ga01 | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
PW484Ga01 | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Ovis aries; Ovine (Sheep)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Oryctolagus cuniculus (Rabbit)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | W484Rb01 | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
PW484Rb51 | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Cavia (Guinea pig )
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Equus caballus; Equine (Horse)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Capra hircus; Caprine (Goat)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Organism species: Pan-species (General)
PRODUCT TYPE | CATALOG NO. | PRODUCT NAME | APPLICATIONS |
---|---|---|---|
Proteins | NONE | Recombinant Connexin 43 (CX43) | Positive Control; Immunogen; SDS-PAGE; WB. |
NONE | Native Connexin 43 (CX43) | Bioactivity | |
Antibodies | NONE | Monoclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IP. |
NONE | Polyclonal Antibody to Connexin 43 (CX43) | WB; IHC; ICC; IF. | |
NONE | Biotin Linked-Polyclonal Antibody to Connexin 43 (CX43) | ELISA(Det);IC; IH; IH(P); WB | |
NONE | APC Linked-Polyclonal Antibody to Connexin 43 (CX43) | IHC, WB | |
NONE | HRP Linked-Polyclonal Antibody to Connexin 43 (CX43) | Simple Western; WB | |
NONE | PE Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry | |
NONE | FITC Linked-Polyclonal Antibody to Connexin 43 (CX43) | Flow Cytometry;ICC/IF | |
Assay Kits | NONE | ELISA Kit for Connexin 43 (CX43) | Enzyme-linked immunosorbent assay for Antigen Detection |
NONE | CLIA kit for Connexin 43 (CX43) | CLIA assay for Antigen Detection |
Reference
"Molecular characterization and functional expression of the human cardiac gap junction channel."
J. Cell Biol. 111:589-598(1990) [PubMed] [Europe PMC] [Abstract]
"The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures."
Genomics 10:250-256(1991) [PubMed] [Europe PMC] [Abstract]
"Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes."
Eur. Heart J. 20:1843-1843(1999) [PubMed] [Europe PMC] [Abstract]
"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
"The DNA sequence and analysis of human chromosome 6."
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
"Intercellular calcium signaling via gap junction in connexin-43-transfected cells."
J. Biol. Chem. 273:1519-1528(1998) [PubMed] [Europe PMC] [Abstract]
"Phosphorylation of serine 262 in the gap junction protein connexin-43 regulates DNA synthesis in cell-cell contact forming cardiomyocytes."
J. Cell Sci. 117:507-514(2004) [PubMed] [Europe PMC] [Abstract]
"Connexin expression and turnover: implications for cardiac excitability."
Circ. Res. 86:723-728(2000) [PubMed] [Europe PMC] [Abstract]
"Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy."
Circulation 94:1909-1912(1996) [PubMed] [Europe PMC] [Abstract]
"Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy."
Heart 77:369-370(1997) [PubMed] [Europe PMC] [Abstract]
"Connexin43 gene mutations and heterotaxy."
Circulation 97:117-118(1998) [PubMed] [Europe PMC] [Abstract]
"Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness."
Hum. Mol. Genet. 10:2945-2951(2001) [PubMed] [Europe PMC] [Abstract]
"Casein kinase 1 regulates connexin-43 gap junction assembly."
J. Biol. Chem. 277:44962-44968(2002) [PubMed] [Europe PMC] [Abstract]
"Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150."
Biochem. Biophys. Res. Commun. 335:1264-1271(2005) [PubMed] [Europe PMC] [Abstract]
"Cellular sublocalization of Cx43 and the establishment of functional coupling in IMR-32 neuroblastoma cells."
Mol. Carcinog. 42:159-169(2005) [PubMed] [Europe PMC] [Abstract]
"A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome."
J. Med. Genet. 43:E37-E37(2006) [PubMed] [Europe PMC] [Abstract]
"Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia."
Am. J. Hum. Genet. 72:408-418(2003) [PubMed] [Europe PMC] [Abstract]
"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
"The gap junction channel protein connexin 43 is covalently modified and regulated by SUMOylation."
J. Biol. Chem. 287:15851-15861(2012) [PubMed] [Europe PMC] [Abstract]
"Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality."
N. Engl. J. Med. 332:1323-1329(1995) [PubMed] [Europe PMC] [Abstract]
"Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)."
Mutat. Res. 479:173-186(2001) [PubMed] [Europe PMC] [Abstract]
"Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair."
Am. J. Med. Genet. A 127:152-157(2004) [PubMed] [Europe PMC] [Abstract]
"A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype."
Hum. Mutat. 23:286-286(2004) [PubMed] [Europe PMC] [Abstract]
"Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly."
J. Med. Genet. 41:60-67(2004) [PubMed] [Europe PMC] [Abstract]
"A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly."
Am. J. Med. Genet. A 133:58-60(2005) [PubMed] [Europe PMC] [Abstract]
"Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia."
Am. J. Med. Genet. A 139:48-49(2005) [PubMed] [Europe PMC] [Abstract]
"A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia."
Arch. Ophthalmol. 123:1422-1426(2005) [PubMed] [Europe PMC] [Abstract]
"Mutations of connexin43 in fetuses with congenital heart malformations."
Chin. Med. J. 118:971-976(2005) [PubMed] [Europe PMC] [Abstract]
"Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia."
Eur. J. Dermatol. 15:75-79(2005) [PubMed] [Europe PMC] [Abstract]
"Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)."
Eur. J. Med. Genet. 48:377-387(2005) [PubMed] [Europe PMC] [Abstract]
"Clinical and genetic variability of oculodentodigital dysplasia."
Clin. Genet. 70:71-72(2006) [PubMed] [Europe PMC] [Abstract]
"A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis."
Eur. J. Dermatol. 16:241-245(2006) [PubMed] [Europe PMC] [Abstract]
"Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene."
Int. J. Oral Maxillofac. Surg. 36:858-860(2007) [PubMed] [Europe PMC] [Abstract]
"A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features."
Ophthalmic Genet. 28:198-202(2007) [PubMed] [Europe PMC] [Abstract]
"GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype."
Hum. Mutat. 30:724-733(2009) [PubMed] [Europe PMC] [Abstract]
"Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation."
Arch. Ophthalmol. 129:781-784(2011) [PubMed] [Europe PMC] [Abstract]
"A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family."
Clin. Genet. 84:378-381(2013) [PubMed] [Europe PMC] [Abstract]
"A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia."
PLoS ONE 8:E73576-E73576(2013) [PubMed] [Europe PMC] [Abstract]
"Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum."
Gene 539:157-161(2014) [PubMed] [Europe PMC] [Abstract]