"Molecular characterization and functional expression of the human cardiac gap junction channel."
Fishman G.I. , Spray D.C. , Leinwand L.A.
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."
Fishman G.I. , Eddy R.L. , Shows T.B. , Rosenthal L. , Leinwand L.A.
Genomics10:250-256(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."
Haefliger J.-A. , Goy J.J. , Waeber G.
Eur. Heart J.20:1843-1843(1999) [PubMed] [Europe PMC] [Abstract]

"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Halleck A. , Ebert L. , Mkoundinya M. , Schick M. , Eisenstein S. , Neubert P. , Kstrang K. , Schatten R. , Shen B. , Henze S. , Mar W. , Korn B. , Zuo D. , Hu Y. , LaBaer J.
Submitted (2004-06) to the EMBL/GenBank/DDBJ databases

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 6."
Mungall A.J. , Palmer S.A. , Sims S.K. , Edwards C.A. , Ashurst J.L. , Wilming L. , Jones M.C. , Horton R. , Hunt S.E. , Scott C.E. , Gilbert J.G.R. , Clamp M.E. , Bethel G. , Milne S. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Andrews T.D. , Ashwell R.I.S. , Babbage A.K. , Bagguley C.L. , Bailey J. , Banerjee R. , Barker D.J. , Barlow K.F. , Bates K. , Beare D.M. , Beasley H. , Beasley O. , Bird C.P. , Blakey S.E. , Bray-Allen S. , Brook J. , Brown A.J. , Brown J.Y. , Burford D.C. , Burrill W. , Burton J. , Carder C. , Carter N.P. , Chapman J.C. , Clark S.Y. , Clark G. , Clee C.M. , Clegg S. , Cobley V. , Collier R.E. , Collins J.E. , Colman L.K. , Corby N.R. , Coville G.J. , Culley K.M. , Dhami P. , Davies J. , Dunn M. , Earthrowl M.E. , Ellington A.E. , Evans K.A. , Faulkner L. , Francis M.D. , Frankish A. , Frankland J. , French L. , Garner P. , Garnett J. , Ghori M.J. , Gilby L.M. , Gillson C.J. , Glithero R.J. , Grafham D.V. , Grant M. , Gribble S. , Griffiths C. , Griffiths M.N.D. , Hall R. , Halls K.S. , Hammond S. , Harley J.L. , Hart E.A. , Heath P.D. , Heathcott R. , Holmes S.J. , Howden P.J. , Howe K.L. , Howell G.R. , Huckle E. , Humphray S.J. , Humphries M.D. , Hunt A.R. , Johnson C.M. , Joy A.A. , Kay M. , Keenan S.J. , Kimberley A.M. , King A. , Laird G.K. , Langford C. , Lawlor S. , Leongamornlert D.A. , Leversha M. , Lloyd C.R. , Lloyd D.M. , Loveland J.E. , Lovell J. , Martin S. , Mashreghi-Mohammadi M. , Maslen G.L. , Matthews L. , McCann O.T. , McLaren S.J. , McLay K. , McMurray A. , Moore M.J.F. , Mullikin J.C. , Niblett D. , Nickerson T. , Novik K.L. , Oliver K. , Overton-Larty E.K. , Parker A. , Patel R. , Pearce A.V. , Peck A.I. , Phillimore B.J.C.T. , Phillips S. , Plumb R.W. , Porter K.M. , Ramsey Y. , Ranby S.A. , Rice C.M. , Ross M.T. , Searle S.M. , Sehra H.K. , Sheridan E. , Skuce C.D. , Smith S. , Smith M. , Spraggon L. , Squares S.L. , Steward C.A. , Sycamore N. , Tamlyn-Hall G. , Tester J. , Theaker A.J. , Thomas D.W. , Thorpe A. , Tracey A. , Tromans A. , Tubby B. , Wall M. , Wallis J.M. , West A.P. , White S.S. , Whitehead S.L. , Whittaker H. , Wild A. , Willey D.J. , Wilmer T.E. , Wood J.M. , Wray P.W. , Wyatt J.C. , Young L. , Younger R.M. , Bentley D.R. , Coulson A. , Durbin R.M. , Hubbard T. , Sulston J.E. , Dunham I. , Rogers J. , Beck S. more...
Nature425:805-811(2003) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Intercellular calcium signaling via gap junction in connexin-43-transfected cells."
Toyofuku T. , Yabuki M. , Otsu K. , Kuzuya T. , Hori M. , Tada M.
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."
Doble B.W. , Dang X. , Ping P. , Fandrich R.R. , Nickel B.E. , Jin Y. , Cattini P.A. , Kardami E.
J. Cell Sci.117:507-514(2004) [PubMed] [Europe PMC] [Abstract]

"Connexin expression and turnover: implications for cardiac excitability."
Saffitz J.E. , Laing J.G. , Yamada K.A.
Circ. Res.86:723-728(2000) [PubMed] [Europe PMC] [Abstract]

"Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy."
Gebbia M. , Towbin J.A. , Casey B.
Circulation94:1909-1912(1996) [PubMed] [Europe PMC] [Abstract]

"Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy."
Penman Splitt M. , Tsai M.Y. , Burn J. , Goodship J.A.
Heart77:369-370(1997) [PubMed] [Europe PMC] [Abstract]

"Connexin43 gene mutations and heterotaxy."
Toth T. , Hajdu J. , Marton T. , Nagy B. , Papp Z.
Circulation97:117-118(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness."
Liu X.Z. , Xia X.J. , Adams J. , Chen Z.Y. , Welch K.O. , Tekin M. , Ouyang X.M. , Kristiansen A. , Pandya A. , Balkany T. , Arnos K.S. , Nance W.E.
Hum. Mol. Genet.10:2945-2951(2001) [PubMed] [Europe PMC] [Abstract]

"Casein kinase 1 regulates connexin-43 gap junction assembly."
Cooper C.D. , Lampe P.D.
J. Biol. Chem.277:44962-44968(2002) [PubMed] [Europe PMC] [Abstract]

"Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150."
Akiyama M. , Ishida N. , Ogawa T. , Yogo K. , Takeya T.
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."
Arnold J.M. , Phipps M.W. , Chen J. , Phipps J.
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."
Richardson R.J. , Joss S. , Tomkin S. , Ahmed M. , Sheridan E. , Dixon M.J.
J. Med. Genet.43:E37-E37(2006) [PubMed] [Europe PMC] [Abstract]

"Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia."
Paznekas W.A. , Boyadjiev S.A. , Shapiro R.E. , Daniels O. , Wollnik B. , Keegan C.E. , Innis J.W. , Dinulos M.B. , Christian C. , Hannibal M.C. , Jabs E.W.
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."
Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
Sci. Signal.4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

"The gap junction channel protein connexin 43 is covalently modified and regulated by SUMOylation."
Kjenseth A. , Fykerud T.A. , Sirnes S. , Bruun J. , Yohannes Z. , Kolberg M. , Omori Y. , Rivedal E. , Leithe E.
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."
Britz-Cunningham S.H. , Shah M.M. , Zuppan C.W. , Fletcher W.H.
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)."
Dasgupta C. , Martinez A.-M. , Zuppan C.W. , Shah M.M. , Bailey L.L. , Fletcher W.H.
Mutat. Res.479:173-186(2001) [PubMed] [Europe PMC] [Abstract]

"Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair."
Kjaer K.W. , Hansen L. , Eiberg H. , Leicht P. , Opitz J.M. , Tommerup N.
Am. J. Med. Genet. A127:152-157(2004) [PubMed] [Europe PMC] [Abstract]

"A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype."
Pizzuti A. , Flex E. , Mingarelli R. , Salpietro C. , Zelante L. , Dallapiccola B.
Hum. Mutat.23:286-286(2004) [PubMed] [Europe PMC] [Abstract]

"Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly."
Richardson R.R. , Donnai D. , Meire F. , Dixon M.J.
J. Med. Genet.41:60-67(2004) [PubMed] [Europe PMC] [Abstract]

"A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly."
Vitiello C. , D'Adamo P. , Gentile F. , Vingolo E.M. , Gasparini P. , Banfi S.
Am. J. Med. Genet. A133:58-60(2005) [PubMed] [Europe PMC] [Abstract]

"Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia."
Honkaniemi J. , Kalkkila J.P. , Koivisto P. , Kahara V. , Latvala T. , Simola K.
Am. J. Med. Genet. A139:48-49(2005) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia."
Vasconcellos J.P.C. , Melo M.B. , Schimiti R.B. , Bressanim N.C. , Costa F.F. , Costa V.P.
Arch. Ophthalmol.123:1422-1426(2005) [PubMed] [Europe PMC] [Abstract]

"Mutations of connexin43 in fetuses with congenital heart malformations."
Chen P. , Xie L.-J. , Huang G.-Y. , Zhao X.-Q. , Chang C.
Chin. Med. J.118:971-976(2005) [PubMed] [Europe PMC] [Abstract]

"Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia."
Kellermayer R. , Keller M. , Ratajczak P. , Richardson E. , Harangi F. , Merei E. , Melegh B. , Kosztolanyi G. , Richard G.
Eur. J. Dermatol.15:75-79(2005) [PubMed] [Europe PMC] [Abstract]

"Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)."
Debeer P. , Van Esch H. , Huysmans C. , Pijkels E. , De Smet L. , Van de Ven W. , Devriendt K. , Fryns J.-P.
Eur. J. Med. Genet.48:377-387(2005) [PubMed] [Europe PMC] [Abstract]

"Clinical and genetic variability of oculodentodigital dysplasia."
Wiest T. , Herrmann O. , Stoegbauer F. , Grasshoff U. , Enders H. , Koch M.J. , Grond-Ginsbach C. , Schwaninger M.
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."
Kelly S.C. , Ratajczak P. , Keller M. , Purcell S.M. , Griffin T. , Richard G.
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."
van Es R.J.J. , Wittebol-Post D. , Beemer F.A.
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."
de la Parra D.R. , Zenteno J.C.
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."
Paznekas W.A. , Karczeski B. , Vermeer S. , Lowry R.B. , Delatycki M. , Laurence F. , Koivisto P.A. , Van Maldergem L. , Boyadjiev S.A. , Bodurtha J.N. , Jabs E.W.
Hum. Mutat.30:724-733(2009) [PubMed] [Europe PMC] [Abstract]

"Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation."
Gabriel L.A. , Sachdeva R. , Marcotty A. , Rockwood E.J. , Traboulsi E.I.
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."
Brice G. , Ostergaard P. , Jeffery S. , Gordon K. , Mortimer P.S. , Mansour S.
Clin. Genet.84:378-381(2013) [PubMed] [Europe PMC] [Abstract]

"A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia."
Hu Y. , Chen I.P. , de Almeida S. , Tiziani V. , Do Amaral C.M. , Gowrishankar K. , Passos-Bueno M.R. , Reichenberger E.J.
PLoS ONE8: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."
Jamsheer A. , Sowinska-Seidler A. , Socha M. , Stembalska A. , Kiraly-Borri C. , Latos-Bielenska A.
Gene539:157-161(2014) [PubMed] [Europe PMC] [Abstract]