GJA1 c.427G>A ;(p.G143S)

Variant ID: 6-121768420-G-A

NM_000165.3(GJA1):c.427G>A;(p.G143S)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

International Journal Of Molecular Sciences
Vermeer, Mathilde C S C MCSC; Andrei, Daniela D; Marsili, Luisa L; van Tintelen, J Peter JP; Silljé, Herman H W HHW; van den Berg, Maarten P MP; van der Meer, Peter P; Bolling, Maria C MC
Publication Date: 2022-09-15

Variant appearance in text: GJA1: 427G>A
PubMed Link: 36142674
Variant Present in the following documents:
  • ijms-23-10765.pdf
View BVdb publication page



Connexin Mutations and Hereditary Diseases.

International Journal Of Molecular Sciences
Qiu, Yue Y; Zheng, Jianglin J; Chen, Sen S; Sun, Yu Y
Publication Date: 2022-04-12

Variant appearance in text: ODDD: Gly143Ser
PubMed Link: 35457072
Variant Present in the following documents:
  • Main text
  • ijms-23-04255.pdf
View BVdb publication page



Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?

International Journal Of Molecular Sciences
Peracchia, Camillo C
Publication Date: 2021-08-25

Variant appearance in text: ODDD: G143S
PubMed Link: 34502077
Variant Present in the following documents:
  • Main text
  • ijms-22-09169.pdf
View BVdb publication page



Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms.

Frontiers In Genetics
Sargiannidou, Irene I; Christophidou-Anastasiadou, Violetta V; Hadjisavvas, Andreas A; Tanteles, George A GA; Kleopa, Kleopas A KA
Publication Date: 2020

Variant appearance in text: GJA1: G143S
PubMed Link: 33584802
Variant Present in the following documents:
  • Main text
  • fgene-11-604806.pdf
View BVdb publication page



Astrocytic Connexin43 Channels as Candidate Targets in Epilepsy Treatment.

Biomolecules
Walrave, Laura L; Vinken, Mathieu M; Leybaert, Luc L; Smolders, Ilse I
Publication Date: 2020-11-20

Variant appearance in text: ODDD: G143S
PubMed Link: 33233647
Variant Present in the following documents:
  • Main text
View BVdb publication page



Calmodulin Directly Interacts with the Cx43 Carboxyl-Terminus and Cytoplasmic Loop Containing Three ODDD-Linked Mutants (M147T, R148Q, and T154A) that Retain α-Helical Structure, but Exhibit Loss-of-Function and Cellular Trafficking Defects.

Biomolecules
Zheng, Li L; Chenavas, Sylvie S; Kieken, Fabien F; Trease, Andrew A; Brownell, Sarah S; Anbanandam, Asokan A; Sorgen, Paul L PL; Spagnol, Gaelle G
Publication Date: 2020-10-17

Variant appearance in text: ODDD: G143S
PubMed Link: 33080786
Variant Present in the following documents:
  • Main text
  • biomolecules-10-01452.pdf
View BVdb publication page



Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.

Case Reports In Ophthalmological Medicine
Kumar, Virang V; Couser, Natario L NL; Pandya, Arti A
Publication Date: 2020

Variant appearance in text: ODDD: 427G>A
PubMed Link: 32318302
Variant Present in the following documents:
  • Main text
  • 6535974.f1.xlsx, sheet 1
  • CRIOPM2020-6535974.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: GJA1: G143S; rs28931600
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Connexins in Cardiovascular and Neurovascular Health and Disease: Pharmacological Implications.

Pharmacological Reviews
Leybaert, Luc L; Lampe, Paul D PD; Dhein, Stefan S; Kwak, Brenda R BR; Ferdinandy, Peter P; Beyer, Eric C EC; Laird, Dale W DW; Naus, Christian C CC; Green, Colin R CR; Schulz, Rainer R
Publication Date: 2017-10

Variant appearance in text: ODDD: G143S
PubMed Link: 28931622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of connexins and pannexins during ontogeny, regeneration, and pathologies of bone.

Bmc Cell Biology
Plotkin, Lilian I LI; Laird, Dale W DW; Amedee, Joelle J
Publication Date: 2016-05-24

Variant appearance in text: ODDD: G143S
PubMed Link: 27230612
Variant Present in the following documents:
  • Main text
  • 12860_2016_Article_88.pdf
View BVdb publication page



Connexinopathies: a structural and functional glimpse.

Bmc Cell Biology
García, Isaac E IE; Prado, Pavel P; Pupo, Amaury A; Jara, Oscar O; Rojas-Gómez, Diana D; Mujica, Paula P; Flores-Muñoz, Carolina C; González-Casanova, Jorge J; Soto-Riveros, Carolina C; Pinto, Bernardo I BI; Retamal, Mauricio A MA; González, Carlos C; Martínez, Agustín D AD
Publication Date: 2016-05-24

Variant appearance in text: ODDD: G143S
PubMed Link: 27228968
Variant Present in the following documents:
  • Main text
View BVdb publication page



Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

Molecular Biology Of The Cell
Kelly, John J JJ; Esseltine, Jessica L JL; Shao, Qing Q; Jabs, Ethylin Wang EW; Sampson, Jacinda J; Auranen, Mari M; Bai, Donglin D; Laird, Dale W DW
Publication Date: 2016-07-15

Variant appearance in text: ODDD: G143S
PubMed Link: 27226478
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: SDTY3: G143S; rs28931600
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Diseases associated with leaky hemichannels.

Frontiers In Cellular Neuroscience
Retamal, Mauricio A MA; Reyes, Edison P EP; García, Isaac E IE; Pinto, Bernardo B; Martínez, Agustín D AD; González, Carlos C
Publication Date: 2015

Variant appearance in text: ODDD: G143S
PubMed Link: 26283912
Variant Present in the following documents:
  • Main text
  • fncel-09-00267.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: GJA1: G143S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

Frontiers In Pharmacology
De Bock, Marijke M; Kerrebrouck, Marianne M; Wang, Nan N; Leybaert, Luc L
Publication Date: 2013-09-26

Variant appearance in text: ODDD: G143S
PubMed Link: 24133447
Variant Present in the following documents:
  • Main text
  • fphar-04-00120.pdf
View BVdb publication page



The epidemiology, genetics and future management of syndactyly.

The Open Orthopaedics Journal
Jordan, D D; Hindocha, S S; Dhital, M M; Saleh, M M; Khan, W W
Publication Date: 2012

Variant appearance in text: ODDD: G143S
PubMed Link: 22448207
Variant Present in the following documents:
  • Main text
  • TOORTHJ-6-14.pdf
View BVdb publication page



Gap junctions in inherited human disorders of the central nervous system.

Biochimica Et Biophysica Acta
Abrams, Charles K CK; Scherer, Steven S SS
Publication Date: 2012-08

Variant appearance in text: ODDD: G143S
PubMed Link: 21871435
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular interaction and functional regulation of connexin50 gap junctions by calmodulin.

The Biochemical Journal
Chen, Yanyi Y; Zhou, Yubin Y; Lin, Xianming X; Wong, Hing-Cheung HC; Xu, Qin Q; Jiang, Jie J; Wang, Siming S; Lurtz, Monica M MM; Louis, Charles F CF; Veenstra, Richard D RD; Yang, Jenny J JJ
Publication Date: 2011-05-01

Variant appearance in text: ODDD: G143S
PubMed Link: 21320072
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V.

The Febs Journal
Chtchetinin, Jana J; Gifford, Wes D WD; Li, Sichen S; Paznekas, William A WA; Jabs, Ethylin Wang EW; Lai, Albert A
Publication Date: 2009-12

Variant appearance in text: ODDD: G143S
PubMed Link: 19860828
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trifluoroethanol reveals helical propensity at analogous positions in cytoplasmic domains of three connexins.

Biopolymers
Fort, Alfredo G AG; Spray, David C DC
Publication Date: 2009

Variant appearance in text: ODDD: G143S
PubMed Link: 19226516
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mutations in GJA1 cause oculodentodigital syndrome.

Journal Of Dental Research
Fenwick, A A; Richardson, R J RJ; Butterworth, J J; Barron, M J MJ; Dixon, M J MJ
Publication Date: 2008-11

Variant appearance in text: GJA1: G143S
PubMed Link: 18946008
Variant Present in the following documents:
  • Main text
View BVdb publication page



The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.

Human Molecular Genetics
Dobrowolski, Radoslaw R; Sasse, Philipp P; Schrickel, Jan W JW; Watkins, Marcus M; Kim, Jung-Sun JS; Rackauskas, Mindaugas M; Troatz, Clemens C; Ghanem, Alexander A; Tiemann, Klaus K; Degen, Joachim J; Bukauskas, Feliksas F FF; Civitelli, Roberto R; Lewalter, Thorsten T; Fleischmann, Bernd K BK; Willecke, Klaus K
Publication Date: 2008-02-15

Variant appearance in text: ODDD: G143S
PubMed Link: 18003637
Variant Present in the following documents:
  • Main text
View BVdb publication page