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Connexin45 (GJC1) loss-of-function mutation contributes to familial atrial fibrillation and conduction disease.
Li RG, Xu YJ, Ye WG, Li YJ, Chen H, Qiu XB, Yang YQ, Bai D. Li RG, et al. Heart Rhythm. 2021 May;18(5):684-693. doi: 10.1016/j.hrthm.2020.12.033. Epub 2021 Jan 9. Heart Rhythm. 2021. PMID: 33429106
Sequencing analysis revealed a heterozygous mutation in the mapping region, NM_005497.4:c.703A>T;p.(M235L), in the GJC1 gene encoding connexin45 (Cx45). The mutation cosegregated with AF in the family and was absent in 632 control individuals. ...CONCLUSION: This study …
Sequencing analysis revealed a heterozygous mutation in the mapping region, NM_005497.4:c.703A>T;p.(M235L), in the GJC1 gene encod …
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
Abbreviations: AD: Alzheimer Disease; AFF4: AF4/FMR2 Family Member 4; ANKRD11: Ankyrin Repeat Domain 11; APC: Anaphase Promoter Complex; ASD: Atrial Septal Defect; ATRX: ATRX Chromatin Remodeler; ATRX: Alpha Thalassemia X-linked intellectual disability syndrome; BIRC5: Baculovira …
Abbreviations: AD: Alzheimer Disease; AFF4: AF4/FMR2 Family Member 4; ANKRD11: Ankyrin Repeat Domain 11; APC: Anaphase Promoter Complex; ASD …
Discovery of GJC1 (Cx45) as a New Gene Underlying Congenital Heart Disease and Arrhythmias.
Li YJ, Wang J, Ye WG, Liu XY, Li L, Qiu XB, Chen H, Xu YJ, Yang YQ, Bai D, Huang RT. Li YJ, et al. Biology (Basel). 2023 Feb 21;12(3):346. doi: 10.3390/biology12030346. Biology (Basel). 2023. PMID: 36979038 Free PMC article.
Sequencing assays of the genes at the mapped locus unveiled a novel heterozygous mutation in the GJC1 gene coding for connexin 45 (Cx45), NM_005497.4:c.550A>G;p.R184G, which was in co-segregation with the disease in the whole family and was not observed in 516 unrelated …
Sequencing assays of the genes at the mapped locus unveiled a novel heterozygous mutation in the GJC1 gene coding for connexin 45 (Cx …
High glucose stimulates proliferative capacity of liver cancer cells possibly via O-GlcNAcylation-dependent transcriptional regulation of GJC1.
Chen Y, Liu R, Chu Z, Le B, Zeng H, Zhang X, Wu Q, Zhu G, Chen Y, Liu Y, Sun F, Lu Z, Qiao Y, Wang J. Chen Y, et al. J Cell Physiol. 2018 Jan;234(1):606-618. doi: 10.1002/jcp.26803. Epub 2018 Aug 5. J Cell Physiol. 2018. PMID: 30078215
Furthermore, enhanced transcriptional expression of GJC1 might occur after stimulation by HG. A transcription factor zinc finger protein 410 (APA1)-binding motif was found to be located at the -82 to -77 nt region within the GJC1 promoter. Without APA1, HG was unabl …
Furthermore, enhanced transcriptional expression of GJC1 might occur after stimulation by HG. A transcription factor zinc finger prot …
Quantitative validation of GJC1 promoter hypermethylation in benign and malignant colorectal tumors.
Ahmed D, Lothe RA, Rivedal E, Lind GE. Ahmed D, et al. Endocr Relat Cancer. 2011 Oct 27;18(6):C31-4. doi: 10.1530/ERC-11-0204. Print 2011 Oct. Endocr Relat Cancer. 2011. PMID: 21868474
We have previously shown that the gap junction protein gamma 1 (GJC1) gene, encoding the connexin-45 protein, is inactivated by promoter hypermethylation in colorectal cancer. ...The methylation of GJC1 was confirmed to be tumor specific and was observed in 33% of c …
We have previously shown that the gap junction protein gamma 1 (GJC1) gene, encoding the connexin-45 protein, is inactivated by promo …
DNA methylation analyses of the connexin gene family reveal silencing of GJC1 (Connexin45) by promoter hypermethylation in colorectal cancer.
Sirnes S, Honne H, Ahmed D, Danielsen SA, Rognum TO, Meling GI, Leithe E, Rivedal E, Lothe RA, Lind GE. Sirnes S, et al. Epigenetics. 2011 May;6(5):602-9. doi: 10.4161/epi.6.5.15237. Epub 2011 May 1. Epigenetics. 2011. PMID: 21406965
GJC1 expression was reduced in colorectal carcinomas compared to normal tissue samples. ...Taken together, DNA hypermethylation of the promoter region of GJC1, encoding connexin45, is an important mechanism in silencing gene expression in colorectal cancer....
GJC1 expression was reduced in colorectal carcinomas compared to normal tissue samples. ...Taken together, DNA hypermethylation of th
Identification of Cx45 as a Major Component of GJs in HeLa Cells.
Choi EJ, Palacios-Prado N, Sáez JC, Lee J. Choi EJ, et al. Biomolecules. 2020 Sep 29;10(10):1389. doi: 10.3390/biom10101389. Biomolecules. 2020. PMID: 33003547 Free PMC article.
We conducted the I-YFP GJIC assay in HeLa cells, which revealed a weak level of GJIC that could not be detected by the Lucifer yellow scrape-loading assay. The mRNA expression of GJB5 (Cx31.1), GJA1 (Cx43), and GJC1 (Cx45) was detected in HeLa cells by RT-PCR analysis. Kno …
We conducted the I-YFP GJIC assay in HeLa cells, which revealed a weak level of GJIC that could not be detected by the Lucifer yellow scrape …
Identification of de novo mutations in prenatal neurodevelopment-associated genes in schizophrenia in two Han Chinese patient-sibling family-based cohorts.
Jiang S, Zhou D, Wang YY, Jia P, Wan C, Li X, He G, Cao D, Jiang X, Kendler KS, Tsuang M, Mize T, Wu JS, Lu Y, He L, Chen J, Zhao Z, Chen X. Jiang S, et al. Transl Psychiatry. 2020 Sep 1;10(1):307. doi: 10.1038/s41398-020-00987-z. Transl Psychiatry. 2020. PMID: 32873781 Free PMC article. Retracted.
Analysis of rare variants in independent exome sequencing dataset indicates that GJC1 has significantly more rare variants in SCZ patients than in unaffected controls. Data from genome-wide association studies suggested that common variants in the GJC1 gene may be a …
Analysis of rare variants in independent exome sequencing dataset indicates that GJC1 has significantly more rare variants in SCZ pat …
A systematic review and in silico study of potential genetic markers implicated in cases of overactive bladder.
Isali I, McClellan P, Wong TR, Sun C, Stout AC, Schumacher FR, Markt S, Wilfred Wu CH, Penney KL, El-Nashar S, Hijaz A, Sheyn D. Isali I, et al. Am J Obstet Gynecol. 2023 Jan;228(1):36-47.e3. doi: 10.1016/j.ajog.2022.07.044. Epub 2022 Aug 4. Am J Obstet Gynecol. 2023. PMID: 35932882 Free PMC article. Review.
RESULTS: A total of 9 studies were included in the final analysis and 11 genes were identified as being up-regulated (purinergic receptor P2X 2 [P2RX2], smoothelin [SMTN], growth-associated protein 43 [GAP43], transient receptor potential cation channel subfamily M member 8 [TRPM …
RESULTS: A total of 9 studies were included in the final analysis and 11 genes were identified as being up-regulated (purinergic receptor P2 …
Cardiac PDGFRα+ interstitial cells generate spontaneous inward currents that contribute to excitability in the heart.
Zheng H, Peri L, Ward GK, Sanders KM, Ward SM. Zheng H, et al. FASEB J. 2023 May;37(5):e22929. doi: 10.1096/fj.202201712R. FASEB J. 2023. PMID: 37086093
FACS purification of PDGFRalpha(+) cells from the SAN and analysis of gene transcripts by qPCR revealed that they were a distinct population of cells that expressed gap junction transcripts, Gja1 and Gjc1. Cardiac PDGFRalpha(+) cells generated spontaneous transient inward …
FACS purification of PDGFRalpha(+) cells from the SAN and analysis of gene transcripts by qPCR revealed that they were a distinct population …
35 results