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Items: 1 to 20 of 78

1.

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.

Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, Gelmetti V, Lepri F, Copetti M, Lamorte G, Cristina Digilio M, Marino B, Zaza A, den Hertog J, Dallapiccola B, De Luca A.

Eur J Hum Genet. 2013 Jan;21(1):69-75. doi: 10.1038/ejhg.2012.109. Epub 2012 Jun 20.

2.

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.

Gollob MH, Jones DL, Krahn AD, Danis L, Gong XQ, Shao Q, Liu X, Veinot JP, Tang AS, Stewart AF, Tesson F, Klein GJ, Yee R, Skanes AC, Guiraudon GM, Ebihara L, Bai D.

N Engl J Med. 2006 Jun 22;354(25):2677-88.

3.

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.

Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.

Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22.

4.

Cataract-associated D3Y mutation of human connexin46 (hCx46) increases the dye coupling of gap junction channels and suppresses the voltage sensitivity of hemichannels.

Schlingmann B, Schadzek P, Busko S, Heisterkamp A, Ngezahayo A.

J Bioenerg Biomembr. 2012 Oct;44(5):607-14. doi: 10.1007/s10863-012-9461-0. Epub 2012 Jul 28.

PMID:
22843197
5.

Cloning and functional expression of a novel human connexin-25 gene.

Bondarev I, Vine A, Bertram JS.

Cell Commun Adhes. 2001;8(4-6):167-71.

PMID:
12064583
6.

A spontaneously arising mutation in connexin32 with repeated passage of FRTL-5 cells coincides with increased growth rate and reduced thyroxine release.

Green LM, Murray DK, Tran DT, Nelson GA, Shah MM, Luben RA.

J Mol Endocrinol. 2001 Oct;27(2):145-63.

PMID:
11564600
7.

Prevalence and spectrum of GJA5 mutations associated with lone atrial fibrillation.

Shi HF, Yang JF, Wang Q, Li RG, Xu YJ, Qu XK, Fang WY, Liu X, Yang YQ.

Mol Med Rep. 2013 Mar;7(3):767-74. doi: 10.3892/mmr.2012.1252. Epub 2012 Dec 28.

PMID:
23292621
8.

Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication.

Sun Y, Yang YQ, Gong XQ, Wang XH, Li RG, Tan HW, Liu X, Fang WY, Bai D.

Hum Mutat. 2013 Apr;34(4):603-9. doi: 10.1002/humu.22278.

PMID:
23348765
9.

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease.

Martin PE, Mambetisaeva ET, Archer DA, George CH, Evans WH.

J Neurochem. 2000 Feb;74(2):711-20.

10.

HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.

Wang J, Hu XQ, Guo YH, Gu JY, Xu JH, Li YJ, Li N, Yang XX, Yang YQ.

Pediatr Cardiol. 2017 Mar;38(3):547-557. doi: 10.1007/s00246-016-1547-8. Epub 2016 Dec 10.

PMID:
27942761
11.

A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot.

Nemer G, Fadlalah F, Usta J, Nemer M, Dbaibo G, Obeid M, Bitar F.

Hum Mutat. 2006 Mar;27(3):293-4.

PMID:
16470721
12.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS.

PLoS Genet. 2012;8(8):e1002843. doi: 10.1371/journal.pgen.1002843. Epub 2012 Aug 9.

13.

Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.

Bai D.

FEBS Lett. 2014 Apr 17;588(8):1238-43. doi: 10.1016/j.febslet.2014.02.064. Epub 2014 Mar 19. Review.

14.

Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot.

Huang RT, Xue S, Xu YJ, Yang YQ.

Int J Mol Med. 2013 Jan;31(1):51-8. doi: 10.3892/ijmm.2012.1188. Epub 2012 Nov 20.

PMID:
23175051
15.
16.

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.

Gottfried I, Landau M, Glaser F, Di WL, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP, Avraham KB.

Hum Mol Genet. 2002 May 15;11(11):1311-6.

PMID:
12019212
17.

Gap junction protein phenotypes of the human heart and conduction system.

Davis LM, Rodefeld ME, Green K, Beyer EC, Saffitz JE.

J Cardiovasc Electrophysiol. 1995 Oct;6(10 Pt 1):813-22. Erratum in: J Cardiovasc Electrophysiol 1996 Apr;7(4):383-5.

PMID:
8542077
18.

A dominant negative mutation of neuronal connexin 36 that blocks intercellular permeability.

Placantonakis D, Cicirata F, Welsh JP.

Brain Res Mol Brain Res. 2002 Jan 31;98(1-2):15-28.

PMID:
11834292
19.

Rapid determination of gap junction formation using HeLa cells microinjected with cDNAs encoding wild-type and chimeric connexins.

George CH, Martin PE, Evans WH.

Biochem Biophys Res Commun. 1998 Jun 29;247(3):785-9.

PMID:
9647771
20.

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.

Christiansen J, Dyck JD, Elyas BG, Lilley M, Bamforth JS, Hicks M, Sprysak KA, Tomaszewski R, Haase SM, Vicen-Wyhony LM, Somerville MJ.

Circ Res. 2004 Jun 11;94(11):1429-35. Epub 2004 Apr 29.

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