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    GJA4 gap junction protein alpha 4 [ Homo sapiens (human) ]

    Gene ID: 2701, updated on 10-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Determinants of vascular impairment in type 1 diabetes-impact of sex and connexin 37 gene polymorphism: A cross-sectional study.

    Determinants of vascular impairment in type 1 diabetes-impact of sex and connexin 37 gene polymorphism: A cross-sectional study.
    Piťhová P, Cichrová M, Kvapil M, Hubáček JA, Dlouhá D, Piťha J., Free PMC Article

    08/23/2024
    Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.

    Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.
    Huo R, Yang Y, Xu H, Zhao S, Song D, Weng J, Ma R, Sun Y, Wang J, Jiao Y, Zhang J, He Q, Wu R, Wang S, Zhao JZ, Zhang J, Wang J, Cao Y., Free PMC Article

    01/3/2024
    Connexin 37 sequestering of activated-ERK in the cytoplasm promotes p27-mediated endothelial cell cycle arrest.

    Connexin 37 sequestering of activated-ERK in the cytoplasm promotes p27-mediated endothelial cell cycle arrest.
    Acharya BR, Fang JS, Jeffery ED, Chavkin NW, Genet G, Vasavada H, Nelson EA, Sheynkman GM, Humphries MJ, Hirschi KK., Free PMC Article

    06/7/2023
    Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.

    Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
    Hongo H, Miyawaki S, Teranishi Y, Mitsui J, Katoh H, Komura D, Tsubota K, Matsukawa T, Watanabe M, Kurita M, Yoshimura J, Dofuku S, Ohara K, Ishigami D, Okano A, Kato M, Hakuno F, Takahashi A, Kunita A, Ishiura H, Shin M, Nakatomi H, Nagao T, Goto H, Takahashi SI, Ushiku T, Ishikawa S, Okazaki M, Morishita S, Tsuji S, Saito N., Free PMC Article

    02/14/2023
    A clinicopathological reappraisal of orbital vascular malformations and distinctive GJA4 mutation in cavernous venous malformations.

    A clinicopathological reappraisal of orbital vascular malformations and distinctive GJA4 mutation in cavernous venous malformations.
    Chen KH, Huang HY, Chen TC, Liu YJ, Lin IC, Ng KF, Chuang HC, Huang SC.

    12/31/2022
    Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis.

    Mannose-Binding Lectin (MBL) and Gap Junction Protein Alpha 4 (GJA4) Gene Heterogeneity in Relation to Severity of Clinical Disease in Cystic Fibrosis.
    Laubach JP, Ludwig M, Horn T, Eickmeier O, Smaczny C, Schubert R, Zielen S, Majoor C, Aydin M, Schmitt-Grohé S.

    07/2/2022
    The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile.

    The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile.
    Tauziède-Espariat A, Pierre T, Wassef M, Castel D, Riant F, Grill J, Roux A, Pallud J, Dezamis E, Bresson D, Benichi S, Blauwblomme T, Benzohra D, Gauchotte G, Pouget C, Colnat-Coulbois S, Mokhtari K, Balleyguier C, Larousserie F, Dangouloff-Ros V, Boddaert N, Debily MA, Hasty L, Polivka M, Adle-Biassette H, Métais A, Lechapt E, Chrétien F, Sahm F, Sievers P, Varlet P, RENOCLIP-LOC., Free PMC Article

    06/11/2022
    The role of connexin 37 polymorphism in spontaneous abortion.

    The role of connexin 37 polymorphism in spontaneous abortion.
    Kníže M, Piťha J, Hubacek JA, Fait T., Free PMC Article

    12/18/2021
    Our data demonstrate that Cx37 expression is differentially regulated by shear stress and SMAD1/5 signaling, and that reduced Cx37 expression is permissive for capillary enlargement into shunts.

    Impaired SMAD1/5 Mechanotransduction and Cx37 (Connexin37) Expression Enable Pathological Vessel Enlargement and Shunting.
    Peacock HM, Tabibian A, Criem N, Caolo V, Hamard L, Deryckere A, Haefliger JA, Kwak BR, Zwijsen A, Jones EAV.

    07/18/2020
    interaction with PDE4D gene polymorphisms and susceptibility to ischemic stroke in Chinese population

    Interaction between CONNEXIN37 and PDE4D gene polymorphisms with susceptibility to ischemic stroke in Chinese population.
    Zhang L, Ding R, Kuang P, Wang L, Deng H, Xiong Q, Jiang H., Free PMC Article

    06/27/2020
    Cx37 SNP rs1764391 may contribute to the risk for acute myocardial infarction (AMI), especially in women. This genetic variant may prove to be a potential biomarker for AMI risk stratification and may prove to be a useful target for therapeutic intervention to further improve prognosis in high-risk patients.

    Relationship between SNP rs1764391 and Susceptibility, Risk Factors, Gene-environment Interactions of Acute Myocardial Infarction in Guangxi Han Chinese Population.
    Li J, Qin R, Wang W, Huang Z, Huang DL, Li T, Wang F, Zeng XT, Sun ZY, Liu XF, Huang F, Guo T.

    03/28/2020
    Cx37/Cx43 and Cx37/Cx45 gap junctions (GJs), but not Cx37/Cx40 GJs, were functional and each with unique rectifying channel properties.

    Heterotypic docking compatibility of human connexin37 with other vascular connexins.
    Kim NK, Santos-Miranda A, Chen H, Aoyama H, Bai D.

    01/11/2020
    Data show that fluid shear stress activates NOTCH signaling, which upregulates GJA4 (commonly, Cx37) and downstream cell cycle inhibitor CDKN1B (p27).

    Shear-induced Notch-Cx37-p27 axis arrests endothelial cell cycle to enable arterial specification.
    Fang JS, Coon BG, Gillis N, Chen Z, Qiu J, Chittenden TW, Burt JM, Schwartz MA, Hirschi KK., Free PMC Article

    10/6/2018
    CONNEXIN-37 gene polymorphisms are an ischemic stroke risk factor in Northern Han Chinese.

    Polymorphism of CONNEXIN37 gene is a risk factor for ischemic stroke in Han Chinese population.
    Li H, Yu S, Wang R, Sun Z, Zhou X, Zheng L, Yin Z, Sun Y., Free PMC Article

    09/29/2018
    ur study describes for the first time an association of drug-resistant non-structural heart disease AF with the Cx37 1019C > T gene polymorphism. We also confirmed the association of the Cx40 - 26G > A polymorphism in patients with AF and structural disease.

    Differential Association of Cx37 and Cx40 Genetic Variants in Atrial Fibrillation with and without Underlying Structural Heart Disease.
    Carballo S, Pfenniger A, Carballo D, Garin N, James RW, Mach F, Shah D, Kwak BR., Free PMC Article

    08/18/2018
    the present study reported on a Cx37 variant in two Caucasian primary ovarian insufficiency (POI)patients, which was absent in control Caucasian populations, and which had a deleterious effect in vitro. It is therefore suggested that in the genetic context of the Caucasian population, this variant may contribute to POI.

    A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro.
    Bachelot A, Gilleron J, Meduri G, Guberto M, Dulon J, Boucherie S, Touraine P, Misrahi M., Free PMC Article

    07/28/2018
    This study shows that Cx37 C1019T and Cx40 A71G polymorphisms are not associated with cardioprotective role in Egyptians.

    Polymorphisms in Gap Junction Proteins and their Role in Predisposition of Acute Myocardial Infarction in Egyptians.
    El Tahry FA, Hashad IM, Abdel Rahman MF, Gad MZ.

    04/28/2018
    The CX37 rs1764390 G allele is associated with increased susceptibility to sepsis, which may be involved in the process of sepsis via mediating the plasma levels of NO, IL-6 and CRP.

    Association between Cx37 rs1764390 polymorphism and susceptibility to sepsis in Chinese population.
    Yu L, Yang H, Xiang Y, Guo X, Liu Z, Guo R.

    11/4/2017
    Results suggest polymorphisms of Cx37 rs1630310 and Cx43 rs1925223 genes may be associated with the pathogenesis of essential hypertension.

    Association of connexin gene polymorphism with essential hypertension in Kazak and Han Chinese in Xinjiang, China.
    Wang LJ, Zhang WW, Zhang L, Shi WY, Wang YZ, Ma KT, Liu WD, Zhao L, Li L, Si JQ.

    06/24/2017
    The C allele in the CX37 gene might be associated with susceptibility to dilated cardiomyopathy (DCM) in Chinese Han; female carriers of the C allele had higher DCM risk compared with TT homozygotes than males

    Association between 1019C/T polymorphism in the connexin 37 gene and dilated cardiomyopathy.
    Tang J, Li L, Hu LQ, Cai QY, Chen L.

    01/28/2017
    Our findings suggest that the Cx37 C1019T variation may contribute to the risk of PCOS in the South Indian women.

    Analysis of Connexin37 gene C1019T polymorphism and PCOS susceptibility in South Indian population: case-control study.
    Guruvaiah P, Govatati S, Reddy TV, Beeram H, Deenadayal M, Shivaji S, Bhanoori M.

    10/22/2016
    The protective effect of the T allele of the Cx37 gene might be strongly modified by smoking; in women, this effect could be mediated through stem cells.

    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, Králová Lesná I, Hubáček JA, Sekerková A, Lánská V, Adámková V, Dorobantu M, Nicolescu R, Steiner R, Ivić V, Borbely A, Papp Z, Vari SG.

    10/22/2016
    Review/Meta-analysis: Cx37 C1019T was a risk factor for myocardial infarction and a protective factor for coronary artery disease.

    Association of Connexin37 C1019T with myocardial infarction and coronary artery disease: a meta-analysis.
    Wen D, Du X, Nie SP, Dong JZ, Ma CS.

    08/8/2015
    The C allele in the CX37 gene might be associated with the susceptibility to EH in population of Wuxi, China.

    Association between 1019C/T polymorphism in the connexin 37 gene and essential hypertension.
    Guo S, Chen W, Yang Y, Yang Z, Cao M.

    06/27/2015
    three variants in PNPLA3 gene may be a genetic risk factor for NASH

    Cx37 C1019T polymorphism may contribute to the pathogenesis of coronary heart disease.
    Zhao L, Li Y, Wu D, Ma T, Xia SY, Liu Z.

    04/4/2015
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