Gene Symbol: GJA5
Description: gap junction protein alpha 5
Alias: ATFB11, CX40, gap junction alpha-5 protein, connexin 40, gap junction protein alpha 5 40kDa
Species: human
Products:     GJA5

Top Publications

  1. Christiansen J, Dyck J, Elyas B, Lilley M, Bamforth J, Hicks M, et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res. 2004;94:1429-35 pubmed
    ..Reduced expression of connexin40 (Cx40) has been found in association with atrial fibrillation, and deletion of Cx40 in a mouse model causes various ..
  2. Thibodeau I, Xu J, Li Q, Liu G, Lam K, Veinot J, et al. Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43-deletion mutant identified from atrial tissue. Circulation. 2010;122:236-44 pubmed publisher
    ..retention of the mutant protein and a dominant-negative effect on gap junction formation of both wild-type Cx43 and Cx40. Electrophysiological studies revealed no electrical coupling of cells expressing the mutant protein alone and ..
  3. Nishimura T, Dunk C, Lu Y, Feng X, Gellhaus A, Winterhager E, et al. Gap junctions are required for trophoblast proliferation in early human placental development. Placenta. 2004;25:595-607 pubmed
    ..We have identified transcripts for five connexin gap junction proteins in the early human placenta (Cx32, Cx37, Cx40, Cx43 and Cx45). Of these, Cx40 and Cx45 proteins immunolocalize to EVT in anchoring cell columns...
  4. Firouzi M, Ramanna H, Kok B, Jongsma H, Koeleman B, Doevendans P, et al. Association of human connexin40 gene polymorphisms with atrial vulnerability as a risk factor for idiopathic atrial fibrillation. Circ Res. 2004;95:e29-33 pubmed
    ..2 linked polymorphisms within regulatory regions of the gene for the atrial gap junction protein connexin40 (Cx40) at nucleotides -44 (G-->A) and +71 (A-->G), which were associated with familial atrial standstill...
  5. Juang J, Chern Y, Tsai C, Chiang F, Lin J, Hwang J, et al. The association of human connexin 40 genetic polymorphisms with atrial fibrillation. Int J Cardiol. 2007;116:107-12 pubmed
    ..We investigated the association between Af and polymorphisms of the connexin 40 (Cx40) gene, which is important in the electrical coupling between atrial myocytes...
  6. Cervellati F, Franceschetti G, Lunghi L, Franzellitti S, Valbonesi P, Fabbri E, et al. Effect of high-frequency electromagnetic fields on trophoblastic connexins. Reprod Toxicol. 2009;28:59-65 pubmed publisher
    ..HF-EMF exposure significantly and selectively increased Cx40 and Cx43, without altering protein expression...
  7. Yang Y, Liu X, Zhang X, Wang X, Tan H, Shi H, et al. Novel connexin40 missense mutations in patients with familial atrial fibrillation. Europace. 2010;12:1421-7 pubmed publisher
    ..The findings expand the spectrum of mutations in connexin40 linked to AF and provide new insight into the molecular aetiology involved in the pathogenesis of AF. ..
  8. Yang Y, Zhang X, Wang X, Tan H, Shi H, Jiang W, et al. Connexin40 nonsense mutation in familial atrial fibrillation. Int J Mol Med. 2010;26:605-10 pubmed
    ..The findings suggest a pathogenic link between the compromised connexin40 function and familial AF, hence providing new insight into the molecular mechanisms involved in AF. ..
  9. Wirka R, Gore S, Van Wagoner D, Arking D, Lubitz S, Lunetta K, et al. A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation. Circ Arrhythm Electrophysiol. 2011;4:87-93 pubmed publisher
    A common single-nucleotide polymorphism (SNP) in the promoter of the Connexin-40 (Cx40) gene GJA5 was suggested to affect Cx40 promoter activity and the risk of atrial fibrillation (AF), but the role of other common Cx40 polymorphisms is ..

More Information

Publications112 found, 100 shown here

  1. Vozzi C, Dupont E, Coppen S, Yeh H, Severs N. Chamber-related differences in connexin expression in the human heart. J Mol Cell Cardiol. 1999;31:991-1003 pubmed
    ..Three additional connexin isoforms, Cx40, Cx45 and Cx37, of distinctive functional capacities in vitro, are expressed in cardiovascular cells, but our ..
  2. Dupays L, Mazurais D, Rucker Martin C, Calmels T, Bernot D, Cronier L, et al. Genomic organization and alternative transcripts of the human Connexin40 gene. Gene. 2003;305:79-90 pubmed
    The human Cx40 gene (NT_004434...
  3. Gollob M, Jones D, Krahn A, Danis L, Gong X, Shao Q, et al. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med. 2006;354:2677-88 pubmed
    ..The cardiac gap-junction protein connexin 40 is expressed selectively in atrial myocytes and mediates the coordinated electrical activation of the atria...
  4. Christophersen I, Holmegard H, Jabbari J, Sajadieh A, Haunsø S, Tveit A, et al. Rare variants in GJA5 are associated with early-onset lone atrial fibrillation. Can J Cardiol. 2013;29:111-6 pubmed publisher
    Genetic factors are believed to be important in early-onset lone atrial fibrillation (AF). The gene GJA5 encodes the gap-junction protein Cx40, which together with Cx43 is responsible for the electrical coupling of the atrial ..
  5. Sun Y, Yang Y, Gong X, Wang X, Li R, Tan H, et al. Novel germline GJA5/connexin40 mutations associated with lone atrial fibrillation impair gap junctional intercellular communication. Hum Mutat. 2013;34:603-9 pubmed publisher
    ..the molecular and cellular mechanisms of lone AF-linked germline mutations in the connexin40 (Cx40) gene, GJA5. The entire coding region of GJA5 was sequenced in 68 unrelated patients with lone AF...
  6. Rommel C, Rösner S, Lother A, Barg M, Schwaderer M, Gilsbach R, et al. The Transcription Factor ETV1 Induces Atrial Remodeling and Arrhythmia. Circ Res. 2018;: pubmed publisher
    ..Various genes involved in Ca2+ handling or gap junction formation (Ryr2, Jph2, Gja5), potassium channels (Kcnh2, Kcnk3) as well as genes implicated in AF (Tbx5) were part of this ..
  7. Nikolaidou T, Cai X, Stephenson R, Yanni J, Lowe T, Atkinson A, et al. Congestive Heart Failure Leads to Prolongation of the PR Interval and Atrioventricular Junction Enlargement and Ion Channel Remodelling in the Rabbit. PLoS ONE. 2015;10:e0141452 pubmed publisher
    ..3 in the transitional tissue. Cx40 mRNA was significantly downregulated in the atrial septum and AVJ tissues but not in the ventricular septum...
  8. Makino A, Dai A, Han Y, Youssef K, Wang W, Donthamsetty R, et al. O-GlcNAcase overexpression reverses coronary endothelial cell dysfunction in type 1 diabetic mice. Am J Physiol Cell Physiol. 2015;309:C593-9 pubmed publisher
    ..We found that connexin 40 could be the potential target of O-GlcNAcylation that regulates the endothelial functions in diabetes...
  9. Grimmer B, Kuebler W. The endothelium in hypoxic pulmonary vasoconstriction. J Appl Physiol (1985). 2017;:jap.00120.2017 pubmed publisher
    ..for the existence and functional relevance of such signaling pathway in HPV that involves important roles for connexin 40, epoxyeicosatrienoic acids, sphingolipids, and cystic fibrosis transmembrane conductance regulator...
  10. Shekhar A, Lin X, Liu F, Zhang J, Mo H, Bastarache L, et al. Transcription factor ETV1 is essential for rapid conduction in the heart. J Clin Invest. 2016;126:4444-4459 pubmed publisher
    ..Etv1 was highly expressed in murine PAM and VCS cardiomyocytes, where it regulates expression of Nkx2-5, Gja5, and Scn5a, key cardiac genes required for rapid conduction...
  11. Lee S, Uhm S, Son Y, Park Y, Kim E, Park S. Intermediate Reprogramming of Mouse Skin Fibroblasts into Stem-Like Cells by Bone Morphogenetic Protein 4. Cell Reprogram. 2017;19:107-115 pubmed publisher
    ..exhibited mRNA expression of cardiac mesoderm markers such as Nk2 transcription factor-related locus 5 and connexin 40, and the cardiomyocyte marker troponin T. These differentiated cells exhibited contracting masses...
  12. Koizumi A, Sasano T, Kimura W, Miyamoto Y, Aiba T, Ishikawa T, et al. Genetic defects in a His-Purkinje system transcription factor, IRX3, cause lethal cardiac arrhythmias. Eur Heart J. 2016;37:1469-75 pubmed publisher
    ..IRX3 genetic defects and resultant functional perturbation in the His-Purkinje system are novel genetic risk factors of idiopathic VF, and would improve risk stratification and preventive therapy for SCD in otherwise healthy hearts. ..
  13. Fan J, Zou L, Cui K, Woo K, Du H, Chen S, et al. Atrial overexpression of angiotensin-converting enzyme 2 improves the canine rapid atrial pacing-induced structural and electrical remodeling. Fan, ACE2 improves atrial substrate remodeling. Basic Res Cardiol. 2015;110:45 pubmed publisher
    ..Additionally, ACE2 overexpression also modulated the tachypacing-induced up-regulation of connexin 40, down-regulation of connexin 43 and Kv4.2, and significantly decreased the inducibility and duration of AF...
  14. Saravanan P, West A, Bridgewater B, Davidson N, Calder P, Dobrzynsky H, et al. Omega-3 fatty acids do not alter P-wave parameters in electrocardiogram or expression of atrial connexins in patients undergoing coronary artery bypass surgery. Europace. 2016;18:1521-1527 pubmed
    ..No difference between the two groups in ECG parameters or expression of Connexin 40 or 43...
  15. Zakariyah A, Rajgara R, Veinot J, Skerjanc I, Burgon P. Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit. J Mol Cell Cardiol. 2017;105:89-98 pubmed publisher
    ..5 with delayed heart morphogenesis and downregulation of Nkx2.5 target genes, Anf, Mlc2v, Actc1 and Cx40. Histological examination of Nkx2...
  16. Savi M, Bocchi L, Rossi S, Frati C, Graiani G, Lagrasta C, et al. Antiarrhythmic effect of growth factor-supplemented cardiac progenitor cells in chronic infarcted heart. Am J Physiol Heart Circ Physiol. 2016;310:H1622-48 pubmed publisher
    ..2 expression, favoring intercellular coupling and spread of excitation in mended heart. ..
  17. Shinohara D, Matsushita S, Yamamoto T, Inaba H, Kuwaki K, Shimada A, et al. Reduction of c-kit positive cardiac stem cells in patients with atrial fibrillation. J Cardiol. 2017;69:712-718 pubmed publisher
    ..Progression of remodeling in LA tissue was observed in AF patients. The number of c-kit positive cells cultured from LA appendages was reduced in AF patients, suggesting impairments in self-renewal. ..
  18. Ciesiółka S, Budna J, Jopek K, Bryja A, Kranc W, Borys S, et al. Time- and Dose-Dependent Effects of 17 Beta-Estradiol on Short-Term, Real-Time Proliferation and Gene Expression in Porcine Granulosa Cells. Biomed Res Int. 2017;2017:9738640 pubmed publisher
    ..8 and 3.6??M E2. The relative abundance of Cx36, Cx37, Cx40, Cx43, LHR, FSHR, and CYP19A1 mRNA was measured...
  19. Yuan D, Sun G, Zhang R, Luo C, Ge M, Luo G, et al. Connexin 43 expressed in endothelial cells modulates monocyte‑endothelial adhesion by regulating cell adhesion proteins. Mol Med Rep. 2015;12:7146-52 pubmed publisher
    ..The effects of Cx43 in endothelial cells was independent of Cx37 or Cx40. These experiments suggested that local regulation of endothelial Cx43 expression within the vasculature regulates ..
  20. Chen C, Chang S, Chen Y, Chern S, Wu P, Chen S, et al. Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound. Taiwan J Obstet Gynecol. 2018;57:739-744 pubmed publisher
    ..317-Mb 1q21.1-q21.2 microdeletion encompassing PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8 and GPR89B...
  21. Deng Q, Fu F, Li R, Jing X, Lei T, Yang X, et al. [Application of chromosomal microarray analysis for fetuses with ventricular septal defects]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017;34:699-704 pubmed publisher
    ..1 microduplication and 4q deletion. Candidate genes for VSD included TBX1, LZTR1, FAT1, AKAP10, SKI, PRDM26, GJA5, ERCC4 and YWHAE. For 48...
  22. Müller I, Melville D, Tanwar V, Rybski W, Mukherjee A, Shoemaker M, et al. Functional modeling in zebrafish demonstrates that the atrial-fibrillation-associated gene GREM2 regulates cardiac laterality, cardiomyocyte differentiation and atrial rhythm. Dis Model Mech. 2013;6:332-41 pubmed publisher
    ..These results implicate, for the first time, regulators of BMP signaling in human AF, providing mechanistic insights into the pathogenesis of the disease and identifying potential new therapeutic targets. ..
  23. Chen M, Zhou X, Liu Q, Sheng X, Yu L, Wang Z, et al. Left-sided Noninvasive Vagus Nerve Stimulation Suppresses Atrial Fibrillation by Upregulating Atrial Gap Junctions in Canines. J Cardiovasc Pharmacol. 2015;66:593-9 pubmed publisher
    ..It also shortened the AF duration and prolonged the AF cycle length, which are associated with Cx40 and Cx43 upregulation (P < 0.05)...
  24. Moccia F. Endothelial Ca2+ Signaling and the Resistance to Anticancer Treatments: Partners in Crime. Int J Mol Sci. 2018;19: pubmed publisher
    ..in TRPV4 expression and increase in the expression of P2X7 receptors, Piezo2, Stim1, Orai1, TRPC1, TRPC5, Connexin 40 and dysregulation of the ER Ca2+ handling machinery...
  25. Valiunas V, Cohen I, Brink P. Defining the factors that affect solute permeation of gap junction channels. Biochim Biophys Acta Biomembr. 2018;1860:96-101 pubmed publisher
    ..from published works concerning unitary conductance, ion flux, and permeability for homotypic connexin 43 (Cx43), Cx40, Cx26, Cx50, and Cx37, and performed a comparative analysis of conductance and/or ion/solute flux versus diffusion ..
  26. Rahimi M, Zarnani A, Mobini S, Khorasani S, Darzi M, Kazemnejad S. Comparative effectiveness of three-dimensional scaffold, differentiation media and co-culture with native cardiomyocytes to trigger in vitro cardiogenic differentiation of menstrual blood and bone marrow stem cells. Biologicals. 2018;54:13-21 pubmed publisher
  27. Ma J, Ma S, Yin C, Wu H. Shengmai San-derived herbal prevents the development of a vulnerable substrate for atrial fibrillation in a rat model of ischemic heart failure. Biomed Pharmacother. 2018;100:156-167 pubmed publisher
    ..inhibited cardiac fibroblast to myofibroblast differential, and increased the expression of connexin 43 and connexin 40 in the left atrium...
  28. Pervolaraki E, Dachtler J, Anderson R, Holden A. Ventricular myocardium development and the role of connexins in the human fetal heart. Sci Rep. 2017;7:12272 pubmed publisher
    ..This was accompanied by an increase in connexin 43 and connexin 40 expression levels, suggesting their role in the development of the ventricular conduction system and that ..
  29. Jensen B, Vesterskov S, Boukens B, Nielsen J, Moorman A, Christoffels V, et al. Morpho-functional characterization of the systemic venous pole of the reptile heart. Sci Rep. 2017;7:6644 pubmed publisher
    ..In proximity of the systemic veins, the Anolis sinus venosus expressed markers of the atrial phenotype Nkx2-5 and Gja5. In conclusion, the reptile heart is driven by a pacemaker region with an expression signature similar to that of ..
  30. Karademir L, Aoyama H, Yue B, Chen H, Bai D. Engineered Cx26 variants established functional heterotypic Cx26/Cx43 and Cx26/Cx40 gap junction channels. Biochem J. 2016;473:1391-403 pubmed publisher
    ..increased the formation of morphological and functional heterotypic GJs with connexin43 (Cx43) or connexin40 (Cx40), indicating that these two residues are important for docking incompatibility between Cx26 and these connexins...
  31. Noureldin M, Chen H, Bai D. Functional Characterization of Novel Atrial Fibrillation-Linked GJA5 (Cx40) Mutants. Int J Mol Sci. 2018;19: pubmed publisher
    Atrial fibrillation (AF) is the most common form of cardiac arrhythmia. Recently, four novel heterozygous Cx40 mutations-K107R, L223M, Q236H, and I257L-were identified in 4 of 310 unrelated AF patients and a followup genetic analysis of ..
  32. Wright J, Dunk C, Perkins J, Winterhager E, Kingdom J, Lye S. EGF modulates trophoblast migration through regulation of Connexin 40. Placenta. 2006;27 Suppl A:S114-21 pubmed
    In this study we show that decidua conditioned media (DCM) downregulate Connexin 40 (C x 40) expression in extravillous trophoblast (EVT) outgrowths and can promote EVT differentiation to the invasive phenotype resulting in switching of ..
  33. Rimkutė L, Jotautis V, Marandykina A, Sveikatienė R, Antanavičiūtė I, Skeberdis V. The role of neural connexins in HeLa cell mobility and intercellular communication through tunneling tubes. BMC Cell Biol. 2016;17:3 pubmed publisher
    ..Therefore, we examined the impact of Cxs expressed in the nervous system (Cx36, Cx40, Cx43, Cx45, and Cx47) on: 1) cell mobility; 2) formation and properties of TTs; and 3) transfer of siRNA between ..
  34. Steppan D, Geis L, Pan L, Gross K, Wagner C, Kurtz A. Lack of connexin 40 decreases the calcium sensitivity of renin-secreting juxtaglomerular cells. Pflugers Arch. 2018;470:969-978 pubmed publisher
    ..of extracellular calcium on renin secretion appears to depend on the function of the gap junction protein connexin 40 (Cx40) in renin-producing cells...
  35. Verheule S, van Kempen M, Postma S, Rook M, Jongsma H. Gap junctions in the rabbit sinoatrial node. Am J Physiol Heart Circ Physiol. 2001;280:H2103-15 pubmed
    ..In the periphery of the node, strands of pacemaker myocytes expressing Cx43 intermingle with strands expressing Cx40 and Cx46...
  36. Sun Y, Hills M, Ye W, Tong X, Bai D. Atrial fibrillation-linked germline GJA5/connexin40 mutants showed an increased hemichannel function. PLoS ONE. 2014;9:e95125 pubmed publisher
    Mutations in GJA5 encoding the gap junction protein connexin40 (Cx40) have been linked to lone atrial fibrillation...
  37. Desplantez T, Grikscheit K, Thomas N, Peters N, Severs N, Dupont E. Relating specific connexin co-expression ratio to connexon composition and gap junction function. J Mol Cell Cardiol. 2015;89:195-202 pubmed publisher
    Cardiac connexin 43 (Cx43), Cx40 and Cx45 are co-expressed at distinct ratios in myocytes. This pattern is considered a key factor in regulating the gap junction channels composition, properties and function and remains poorly understood...
  38. Vis J, Nicholson L, Faull R, Evans W, Severs N, Green C. Connexin expression in Huntington's diseased human brain. Cell Biol Int. 1998;22:837-47 pubmed
    ..There was no Cx50 expression observed and Cx40 was localized in the endothelial cells of blood vessels, with the Huntington's diseased brains having more numerous ..
  39. Pfenniger A, van der Laan S, Foglia B, Dunoyer Geindre S, Haefliger J, Winnik S, et al. Lack of association between connexin40 polymorphisms and coronary artery disease. Atherosclerosis. 2012;222:148-53 pubmed publisher
    b>Cx40 is a gap junction protein important for cell-cell communication in the endothelium. Polymorphisms in the promoter region of the human Cx40 gene, -44G>A and +71A>G, were shown to reduce Cx40 transcription by half...
  40. Tribulova N, Egan Benova T, Szeiffova Bacova B, Viczenczová C, Barancik M. New aspects of pathogenesis of atrial fibrillation: remodelling of intercalated discs. J Physiol Pharmacol. 2015;66:625-34 pubmed
    ..On the other hand, modulation of adhesive proteins, N-cadherin and catenin may be promising tool aimed to synchronize heart function. Despite the progress in this field many questions remain to be answered by further research. ..
  41. Qiao Y, Lipovsky C, HICKS S, Bhatnagar S, Li G, Khandekar A, et al. Transient Notch Activation Induces Long-Term Gene Expression Changes Leading to Sick Sinus Syndrome in Mice. Circ Res. 2017;121:549-563 pubmed publisher
    ..5) and Gja5 (connexin 40), are persistently downregulated long after a transient Notch pulse...
  42. Li X, Simard J. Connexin45 gap junction channels in rat cerebral vascular smooth muscle cells. Am J Physiol Heart Circ Physiol. 2001;281:H1890-8 pubmed
    Cells in blood vessel walls express connexin (Cx)43, Cx40, and Cx37...
  43. Chen C, Kuo C, Chen R. Role of CAPE on cardiomyocyte protection via connexin 43 regulation under hypoxia. Int J Med Sci. 2016;13:754-758 pubmed
    ..b>Results: Results showed that hypoxia induced connexin 43 expression, but not altered in connexin 40. Interestingly, CAPE attenuates hypoxia-caused connexin 43 down-regulation and cell death or cell growth ..
  44. Willecke K, Jungbluth S, Dahl E, Hennemann H, Heynkes R, Grzeschik K. Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. Eur J Cell Biol. 1990;53:275-80 pubmed
    ..assignments can be deduced for the human cx32 gene to Xq13-p11, the human cx37 gene as well as the human cx40 gene to 1pter-q12, and the human cx43 gene to 6q14-qter...
  45. Wang L, Zhang W, Zhang L, Shi W, Wang Y, Ma K, et al. Association of connexin gene polymorphism with essential hypertension in Kazak and Han Chinese in Xinjiang, China. J Huazhong Univ Sci Technolog Med Sci. 2017;37:197-203 pubmed publisher
    ..This study aimed to investigate the association of the polymorphism of connexin (Cx) genes Cx37, Cx40, and Cx43 with EH in Kazak and Han Chinese in Xinjiang, China...
  46. Ivanova A, Maksimov V, Ivanoshchuk D, Orlov P, Novoselov V, Savchenko S, et al. Association of Polymorphism in SCN5A, GJA5, and KCNN3 Gene with Sudden Cardiac Death. Bull Exp Biol Med. 2017;163:73-77 pubmed publisher
    We studied association of single-nucleotide SCN5A (rs1805124), GJA5 (rs35594137), and KCNN3 (rs13376333) polymorphisms and sudden cardiac death...
  47. Haefliger J, Goy J, Waeber G. 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. 1999;20:1843 pubmed
  48. Chaldoupi S, Hubens L, Smit Duijzentkunst D, van Stuijvenberg L, Bierhuizen M, van Aarnhem E, et al. Reduced connexin40 protein expression in the right atrial appendage of patients bearing the minor connexin40 allele (-44 G --> A). Europace. 2012;14:1199-205 pubmed publisher
    The occurrence of connexin40 (Cx40) minor polymorphism (-44 G ? A) was increased in patients with idiopathic atrial fibrillation (AF), although its effect on atrial Cx40 protein expression is unknown...
  49. McArthur L, Chilton L, Smith G, Nicklin S. Electrical consequences of cardiac myocyte: fibroblast coupling. Biochem Soc Trans. 2015;43:513-8 pubmed publisher
    ..connexin (Cx) proteins make up one gap junction channel, of which there are three main subtypes in the heart; Cx40, Cx43 and Cx45...
  50. Daumy X, Amarouch M, Lindenbaum P, Bonnaud S, Charpentier E, Bianchi B, et al. Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I. Int J Cardiol. 2016;207:349-58 pubmed publisher
    ..It has been causally related to rare mutations in several genes including SCN5A, SCN1B, TRPM4, LMNA and GJA5. In this study, by applying targeted next-generation sequencing (NGS) in 95 unrelated patients with PCCD, we have ..
  51. Jacobsen J, Sorensen C. Influence of Connexin40 on the renal myogenic response in murine afferent arterioles. Physiol Rep. 2015;3: pubmed publisher
    ..It has previously been shown that connexin-40 (Cx40) is essential in the renal autoregulation and mediates the TGF mechanism...
  52. Chen W, Guo Y, Yang W, Zheng P, Zeng J, Tong W. Involvement of Connexin40 in the Protective Effects of Ginsenoside Rb1 Against Traumatic Brain Injury. Cell Mol Neurobiol. 2016;36:1057-65 pubmed publisher
    ..We discovered that TBI-induced brain injury and up-regulation of connexin40 (Cx40) protein expression as early as 6 h post-TBI, which was reversed by administration of GS-Rb1...
  53. Frimmel K, Sotnikova R, Navarova J, Bernatova I, Krizak J, Haviarova Z, et al. Omega-3 fatty acids reduce lipopolysaccharide-induced abnormalities in expression of connexin-40 in aorta of hereditary hypertriglyceridemic rats. Physiol Res. 2016;65 Suppl 1:S65-76 pubmed
    ..diet can reduce bacterial lipopolysaccharide-induced changes in expression of gap junction protein connexin40 (Cx40) in the aorta of hereditary hypertriglyceridemic (hHTG) rats...
  54. Chen W, Guo Y, Yang W, Zheng P, Zeng J, Tong W. Involvement of autophagy in connexin 40 reduction in the late phase of traumatic brain injury in rats. Brain Res Bull. 2017;131:100-106 pubmed publisher
    ..stress-response process for recycling of intracellular proteins and organelles, is involved in the reduction of connexin 40 (Cx40) during the late phase of traumatic brain injury (TBI)...
  55. Takahashi K, Sasano T, Sugiyama K, Kurokawa J, Tamura N, Soejima Y, et al. High-fat diet increases vulnerability to atrial arrhythmia by conduction disturbance via miR-27b. J Mol Cell Cardiol. 2016;90:38-46 pubmed publisher
    ..HFD mice demonstrated reduced expression of Cx40 in mRNA and protein levels, and its lateralized expression in atria...
  56. Hailati J, Yang Y, Zhang L, He P, Baikeyi M, Muhuyati W, et al. Association between -44G/A and +71A/G polymorphisms in the connexin 40 gene and atrial fibrillation in Uyghur and Han populations in Xinjiang, China. Genet Mol Res. 2016;15: pubmed publisher
    We aimed to elucidate the association between connexin 40 (Cx40) genetic polymorphisms and atrial fibrillation (AF) in a Chinese population in Xinjiang comprising Uyghur and Han individuals...
  57. Saeed Y, Temple I, Borbas Z, Atkinson A, Yanni J, Maczewski M, et al. Structural and functional remodeling of the atrioventricular node with aging in rats: The role of hyperpolarization-activated cyclic nucleotide-gated and ryanodine 2 channels. Heart Rhythm. 2018;15:752-760 pubmed publisher
    ..The expression of connexins (connexin 43 and connexin 40), ion channels (Hyperpolarization-activated cyclic nucleotide-gated channel 4 (HCN4), voltage sensitive sodium ..
  58. Valiunas V, Doronin S, Valiuniene L, Potapova I, Zuckerman J, Walcott B, et al. Human mesenchymal stem cells make cardiac connexins and form functional gap junctions. J Physiol. 2004;555:617-26 pubmed
    ..Immunostaining revealed typical punctate staining for Cx43 and Cx40 along regions of intimate cell-to-cell contact between hMSCs...
  59. Park D, Fishman G. The cardiac conduction system. Circulation. 2011;123:904-15 pubmed publisher
  60. Chen S, Davis L, Westphale E, Beyer E, Saffitz J. Expression of multiple gap junction proteins in human fetal and infant hearts. Pediatr Res. 1994;36:561-6 pubmed
    ..5 mo to 3 y of age), and two adults. Northern blot analysis identified transcripts of connexin40 (Cx40), connexin43 (Cx43), and connexin45 (Cx45) genes in all hearts analyzed...
  61. Cronier L, Defamie N, Dupays L, Théveniau Ruissy M, Goffin F, Pointis G, et al. Connexin expression and gap junctional intercellular communication in human first trimester trophoblast. Mol Hum Reprod. 2002;8:1005-13 pubmed
    ..During the proliferative process of the extravillous trophoblast, Cx40 is expressed in the proximal part of the cell columns...
  62. Cervellati F, Valacchi G, Lunghi L, Fabbri E, Valbonesi P, Marci R, et al. 17-?-Estradiol counteracts the effects of high frequency electromagnetic fields on trophoblastic connexins and integrins. Oxid Med Cell Longev. 2013;2013:280850 pubmed publisher
    ..HF-EMF, 17-?-estradiol, and their combination induced an increase of Cx40 and Cx43 mRNA expression. HF-EMF decreased Int alpha1 and ? 1 mRNA levels but enhanced Int alpha5 mRNA expression...
  63. Guo R, Si R, Scott B, Makino A. Mitochondrial connexin40 regulates mitochondrial calcium uptake in coronary endothelial cells. Am J Physiol Cell Physiol. 2017;312:C398-C406 pubmed publisher
    ..b>Cx40 is predominantly expressed in vascular endothelial cells (ECs) and plays an important role in the electrical ..
  64. Kaba R, Coppen S, Dupont E, Skepper J, Elneil S, Haw M, et al. Comparison of connexin 43, 40 and 45 expression patterns in the developing human and mouse hearts. Cell Commun Adhes. 2001;8:339-43 pubmed
    ..In general, these dynamic changes of connexins 43, 40 and 45 during mouse cardiac development appear to be mirrored in the human. ..
  65. Kléber A, Rudy Y. Basic mechanisms of cardiac impulse propagation and associated arrhythmias. Physiol Rev. 2004;84:431-88 pubmed
    ..This review attempts to synthesize results from computer simulations and experimental preparations to define mechanisms and biophysical principles that govern normal and abnormal conduction in the heart. ..
  66. Makita N, Sasaki K, Groenewegen W, Yokota T, Yokoshiki H, Murakami T, et al. Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms. Heart Rhythm. 2005;2:1128-34 pubmed
    ..has been attributed in part to the digenic inheritance of polymorphisms in the atrial-specific gap junction connexin 40 (Cx40) in conjunction with an SCN5A mutation...
  67. Firouzi M, Kok B, Spiering W, Busjahn A, Bezzina C, Ruijter J, et al. Polymorphisms in human connexin40 gene promoter are associated with increased risk of hypertension in men. J Hypertens. 2006;24:325-30 pubmed
    ..two closely linked polymorphisms (-44G --> A and +71A --> G) within regulatory regions of the gene for Cx40, a major connexin in the vascular wall and the kidney...
  68. Kotsias B, Salim M, Peracchia L, Peracchia C. Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes. J Membr Biol. 2006;214:1-8 pubmed
    ..interaction between CFTR and gap junction channels, we coexpressed in Xenopus oocytes CFTR and either Cx45, Cx40, Cx32 or Cx50 and monitored junctional conductance (G (j)) and its sensitivity to transjunctional voltage (V (j)) ..
  69. Zhang F, Bian Y, Huang L, Fan W. Association between connexin 40 and potassium voltage-gated channel subfamily A member 5 expression in the atrial myocytes of patients with atrial fibrillation. Exp Ther Med. 2017;14:5170-5176 pubmed publisher
    ..Two key genes that sever a role in this remodeling are connexin 40 (Cx40) and potassium voltage-gated channel subfamily A member 5 (KCNA5), respectively...
  70. Oviedo Orta E, Hoy T, Evans W. Intercellular communication in the immune system: differential expression of connexin40 and 43, and perturbation of gap junction channel functions in peripheral blood and tonsil human lymphocyte subpopulations. Immunology. 2000;99:578-90 pubmed
    ..Connexin43 (Cx43) mRNA was expressed in peripheral blood and tonsil lymphocytes, but Cx40 mRNA expression was confined to tonsil-derived T and B lymphocytes; Cx26, Cx32, Cx37 and Cx45 were not detected by ..
  71. Hauer R, Groenewegen W, Firouzi M, Ramanna H, Jongsma H. Cx40 polymorphism in human atrial fibrillation. Adv Cardiol. 2006;42:284-91 pubmed
    Previous studies have shown that two linked polymorphisms within regulatory regions of the gene for connexin40 (Cx40), at nucleotides -44 (G --> A) and +71 (A --> G) occur in about 7% of the general population...
  72. Chernova A, Nikulina S, Shul man V, Kukushkina T, Voevoda M, Maksimov V. [Polymorphism of connexin 40 gene-- a novel genetic marker of the sick sinus node syndrome]. Kardiologiia. 2011;51:17-9 pubmed
    ..for the first time on the clinico-genetic material association between hereditary sick sinus node syndrome and connexin 40 gene polymorphism...
  73. Soemedi R, Topf A, Wilson I, Darlay R, Rahman T, Glen E, et al. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet. 2012;21:1513-20 pubmed publisher
    ..1 in cases of TOF. These small duplications encompassed a single gene in common, GJA5, and were enriched in cases of TOF in comparison to controls [OR = 10.7 (95% CI 1.8-64.3), P = 0.01]...
  74. Kopanic J, Schlingmann B, Koval M, Lau A, Sorgen P, Su V. Degradation of gap junction connexins is regulated by the interaction with Cx43-interacting protein of 75 kDa (CIP75). Biochem J. 2015;466:571-85 pubmed publisher
    ..We have discovered two additional connexins, connexin40 (Cx40) and connexin45 (Cx45), that interact with CIP75...
  75. Murray L, Smith A, Flack E, Crum K, Owen J, Kannankeril P. Genotypic and phenotypic predictors of complete heart block and recovery of conduction after surgical repair of congenital heart disease. Heart Rhythm. 2017;14:402-409 pubmed publisher
    ..2, 95% CI 1.2-4.1), and a common polymorphism in the gene encoding connexin-40 (GJA5 rs10465885 TT genotype; OR 2.1, 95% CI 1.2-3.8) were independently associated with postoperative CHB...
  76. Hwa J, Beckouche N, Huang L, Kram Y, Lindskog H, Wang R. Abnormal arterial-venous fusions and fate specification in mouse embryos lacking blood flow. Sci Rep. 2017;7:11965 pubmed publisher
    ..We propose a molecular mechanism by which blood flow mediates DA and CV morphogenesis, by regulating arterial-venous specification of DA ECs to ensure proper separation of the developing DA and CV. ..
  77. van Rijen H, van Veen T, Hermans M, Jongsma H. Human connexin40 gap junction channels are modulated by cAMP. Cardiovasc Res. 2000;45:941-51 pubmed
    ..One of the proteins that form gap junctions, Connexin40 (Cx40), shows restricted expression in the body, and is found in blood vessels and in the atrium and conduction system of ..
  78. Burt J, Fletcher A, Steele T, Wu Y, Cottrell G, Kurjiaka D. Alteration of Cx43:Cx40 expression ratio in A7r5 cells. Am J Physiol Cell Physiol. 2001;280:C500-8 pubmed
    ..To examine this possibility, we stably transfected A7r5 cells, which naturally coexpress Cx43 and Cx40, with a vector encoding antisense Cx43...
  79. Cottrell G, Burt J. Heterotypic gap junction channel formation between heteromeric and homomeric Cx40 and Cx43 connexons. Am J Physiol Cell Physiol. 2001;281:C1559-67 pubmed
    Recent evidence indicating formation of functional homomeric/heterotypic gap junction channels by connexin40 (Cx40) and connexin43 (Cx43) raises the question of whether data previously interpreted as support for heteromeric channel ..
  80. Aitkenhead M, Wang S, Nakatsu M, Mestas J, Heard C, Hughes C. Identification of endothelial cell genes expressed in an in vitro model of angiogenesis: induction of ESM-1, (beta)ig-h3, and NrCAM. Microvasc Res. 2002;63:159-71 pubmed
    ..These data expand the suite of genes implicated in vascular remodeling and angiogenesis. ..
  81. Teunissen B, Bierhuizen M. Transcriptional control of myocardial connexins. Cardiovasc Res. 2004;62:246-55 pubmed
    ..and is mediated by electrical coupling of cardiomyocytes through gap junction channels composed of connexin40 (Cx40), connexin43 (Cx43) or connexin45 (Cx45)...
  82. Rackauskas M, Kreuzberg M, Pranevicius M, Willecke K, Verselis V, Bukauskas F. Gating properties of heterotypic gap junction channels formed of connexins 40, 43, and 45. Biophys J. 2007;92:1952-65 pubmed
    ..and gating properties of heterotypic gap junction (GJ) channels assembled between cells expressing wild-type Cx40, Cx43, or Cx45 and their fusion forms tagged with color variants of green fluorescent protein...
  83. Chaldoupi S, Soedamah Muthu S, Regieli J, Werf C, Nelen M, van der Smagt J, et al. Absence of connexin 40 gene polymorphism, as a marker of undetected atrial fibrillation in patients with unexplained cerebral ischemic events. Eur J Cardiovasc Prev Rehabil. 2009;16:616-20 pubmed publisher
    ..Idiopathic AF is strongly associated with the human minor connexin 40 (Cx40) promotor polymorphism...
  84. Alonso F, Domingos Pereira S, Le Gal L, Derré L, Meda P, Jichlinski P, et al. Targeting endothelial connexin40 inhibits tumor growth by reducing angiogenesis and improving vessel perfusion. Oncotarget. 2016;7:14015-28 pubmed publisher
    Endothelial connexin40 (Cx40) contributes to regulate the structure and function of vessels...
  85. Kanter H, Saffitz J, Beyer E. Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45. J Mol Cell Cardiol. 1994;26:861-8 pubmed
    ..polymerase chain reaction and genomic cloning to isolate DNA encoding the gap junction proteins human connexin40 (Cx40) and connexin45 (Cx45)...
  86. Kanagaratnam P, Dupont E, Rothery S, Coppen S, Severs N, Peters N. Human atrial conduction and arrhythmogenesis correlates with conformational exposure of specific epitopes on the connexin40 carboxyl tail. J Mol Cell Cardiol. 2006;40:675-87 pubmed
    ..and arrhythmogenicity to provide clinical parameters with which to correlate quantification of connexin40 (Cx40) by different techniques to address the hypothesis that antibody-epitope binding properties may influence ..
  87. Johnson T, Nerem R. Endothelial connexin 37, connexin 40, and connexin 43 respond uniquely to substrate and shear stress. Endothelium. 2007;14:215-26 pubmed
    ..This study investigates the responses of endothelial connexin 37, connexin 40, and connexin 43 (Cx37, Cx40, and Cx43) to shear stress and substrate...
  88. Gorshkova E, Minushkina L, Brovkin A, Brazhnik V, Nosikov V, Zateishchikov D. [Genetic predisposition to development of atrial fibrillation in patients with hypertensive disease]. Kardiologiia. 2010;50:19-24 pubmed
    We studied associations of genes of adrenoreceptor types 1, 2 and 3 (ADRB1, ADRB2, ADRB3), connexin (CX40) and voltage gated potassium channel type 2 (KCNH2) with development of atrial fibrillation (AF) in patients with hypertensive ..
  89. Vorderwülbecke B, Maroski J, Fiedorowicz K, Da Silva Azevedo L, Marki A, Pries A, et al. Regulation of endothelial connexin40 expression by shear stress. Am J Physiol Heart Circ Physiol. 2012;302:H143-52 pubmed publisher
    ..Blood flow, in turn, has been shown to alter endothelial Cx40 expression...
  90. Trease A, Capuccino J, Contreras J, Harris A, Sorgen P. Intramolecular signaling in a cardiac connexin: Role of cytoplasmic domain dimerization. J Mol Cell Cardiol. 2017;111:69-80 pubmed publisher
    ..the spatio-temporal regulation and distinct functional properties of the three dominant connexins (Cx43, Cx45, and Cx40) suggests non-redundant physiological roles for each isoform...
  91. Guida V, Ferese R, Rocchetti M, Bonetti M, Sarkozy A, Cecchetti S, et al. A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. Eur J Hum Genet. 2013;21:69-75 pubmed publisher
    GJA5 gene (MIM no. 121013), localized at 1q21.1, encodes for the cardiac gap junction protein connexin 40. In humans, copy number variants of chromosome 1q21...