Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.P319S
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GJA4

NM_002060.3:p.P319S

Associated Papers

Homozygous Nonsense Variant in the GJA4 Gene Associated With Increased Fetal Nuchal Fold Thickness and Abnormal Fetal Ductus Venosus Termination: A Case Report.

Chauhan B et al.

Cureus, 2025

Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.

Hongo H et al.

Angiogenesis, 2023

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Mind the gap: connexins and pannexins in platelet function.

Taylor KA et al.

Platelets, 2021

The role of connexin 37 polymorphism in spontaneous abortion.

Kníže M et al.

Physiological Research, 2021

Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.

Khan S et al.

Bmc Research Notes, 2021

33743798 (PubMed )
Supplement: 13104_2021_5514_MOESM4_ESM.zip › Supplementary_File_1A-1.xlsx › Supplementary_File_1A-1.exonic_

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

Connexins and Pannexins in Vascular Function and Disease.

Molica F et al.

International Journal of Molecular Sciences, 2018

Polymorphism of CONNEXIN37 gene is a risk factor for ischemic stroke in Han Chinese population.

Li H et al.

Lipids in Health and Disease, 2018

A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro.

Bachelot A et al.

International Journal of Molecular Medicine, 2018

Differential Association of Cx37 and Cx40 Genetic Variants in Atrial Fibrillation with and without Underlying Structural Heart Disease.

Carballo S et al.

International Journal of Molecular Sciences, 2018

Smoking impairs and circulating stem cells favour the protective effect of the T allele of the connexin37 gene in ischemic heart disease--A multinational study.

Pitha J et al.

Atherosclerosis, 2016

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A6-01A.domain

Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Friedrich C et al.

Embo Molecular Medicine, 2014

24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf

Association between C1019T polymorphism of the connexin37 gene and coronary heart disease in patients with in-stent restenosis.

Guo SX et al.

Experimental and Therapeutic Medicine, 2013

Lack of association between connexin40 polymorphisms and coronary artery disease.

Pfenniger A et al.

Atherosclerosis, 2012

Lack of association between a functional genetic variant of connexin 37 and ischemic stroke in a Taiwanese population.

Juo SH et al.

Thrombosis Research, 2012

Association of a matrix metallopeptidase 1 gene polymorphism with long-term outcome of thoracic aortic aneurysm.

Kato K et al.

International Journal of Molecular Medicine, 2012

Connexin 37 limits thrombus propensity by downregulating platelet reactivity.

Angelillo-Scherrer A et al.

Circulation, 2011

The association between subclinical atherosclerosis in carotid arteries and Connexin 37 gene polymorphism (1019C>T; Pro319Ser) in women.

Pitha J et al.

International Angiology : a Journal of the International Union of Angiology, 2011

Genetic variants of connexin37 are associated with carotid intima-medial thickness and future onset of ischemic stroke.

Leu HB et al.

Atherosclerosis, 2011

Unexpected role for the human Cx37 C1019T polymorphism in tumour cell proliferation.

Morel S et al.

Carcinogenesis, 2010

A CETP polymorphism improves the diagnostic power of clinical examination in patients with cardiovascular disease.

Erzberger P et al.

Swiss Medical Weekly, 2010

Gap junction protein Cx37 interacts with endothelial nitric oxide synthase in endothelial cells.

Pfenniger A et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2010

Influence of polymorphisms in candidate genes on early vascular alterations in obese children.

Tounian A et al.

Archives of Cardiovascular Diseases, 2010

The connexin 37 (1019C>T) gene polymorphism is associated with subclinical atherosclerosis in women with type 1 and 2 diabetes and in women with central obesity.

Piťha J et al.

Physiological Research, 2010

Association of candidate gene polymorphisms with chronic kidney disease in Japanese individuals with hypertension.

Yoshida T et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2009

Polymorphisms in multiple genes are associated with resting heart rate in a stepwise allele-dependent manner.

Wilton SB et al.

Heart Rhythm, 2008

Mechanisms of disease: The genetic basis of coronary heart disease.

Kullo IJ et al.

Nature Clinical Practice. Cardiovascular Medicine, 2007

Connexin37: a potential modifier gene of inflammatory disease.

Chanson M et al.

Journal of Molecular Medicine (berlin, Germany), 2007

Association of candidate gene polymorphisms with bone mineral density in community-dwelling Japanese women and men.

Yamada Y et al.

International Journal of Molecular Medicine, 2007

Do allelic variants of the connexin37 1019 gene polymorphism differentially predict for coronary artery disease and myocardial infarction?

Wong CW et al.

Atherosclerosis, 2007

Identification of genetic factors and development of genetic risk diagnosis systems for cardiovascular diseases and stroke.

Yamada Y

Circulation Journal : Official Journal of the Japanese Circulation Society, 2006

The connexin 37 gene polymorphism and coronary artery disease in Ireland.

Horan PG et al.

Heart (british Cardiac Society), 2006

Genetic risk and gene-environment interaction in coronary artery spasm in Japanese men and women.

Murase Y et al.

European Heart Journal, 2004

Genetic risk for restenosis after coronary balloon angioplasty.

Horibe H et al.

Atherosclerosis, 2004

Genetic risk for coronary artery disease in individuals with or without type 2 diabetes.

Yamada Y et al.

Molecular Genetics and Metabolism, 2004

Association of gene polymorphisms with coronary artery disease in low- or high-risk subjects defined by conventional risk factors.

Hirashiki A et al.

Journal of the American College of Cardiology, 2003

Candidate genes and confirmed genetic polymorphisms associated with cardiovascular diseases: a tabular assessment.

Tang Z et al.

Journal of Thrombosis and Thrombolysis, 2001

Connexins: a connection with the skin.

Richard G

Experimental Dermatology, 2000

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