Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.E42K
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GJA1

NM_000165.5:p.E42K

Associated Papers

Connexin hemichannels as candidate targets for cardioprotective and anti-arrhythmic treatments.

Leybaert L et al.

The Journal of Clinical Investigation, 2023

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

Vermeer MCSC et al.

International Journal of Molecular Sciences, 2022

Connexin Mutations and Hereditary Diseases.

Qiu Y et al.

International Journal of Molecular Sciences, 2022

Mutations of CX46/CX50 and Cataract Development.

Shi Y et al.

Frontiers in Molecular Biosciences, 2022

Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.

Kobayashi H et al.

American Journal of Medical Genetics. Part A, 2020

Sudden infant death syndrome and inherited cardiac conditions.

Baruteau AE et al.

Nature Reviews. Cardiology, 2017

GJA1 gene variations in sudden unexplained nocturnal death syndrome in the Chinese Han population.

Wu Q et al.

Forensic Science International, 2017

36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2016

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

Human Connexin43E42K mutation from a sudden infant death victim leads to impaired ventricular activation and neonatal death in mice.

Lübkemeier I et al.

Circulation. Cardiovascular Genetics, 2015

Mutations in cardiovascular connexin genes.

Molica F et al.

Biology of the Cell, 2014

Syndromic and non-syndromic disease-linked Cx43 mutations.

Laird DW

Febs Letters, 2014

Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms.

Bai D

Febs Letters, 2014

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

De Bock M et al.

Frontiers in Pharmacology, 2013

Cardiac connexins, mutations and arrhythmias.

Delmar M et al.

Current Opinion in Cardiology, 2012

Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death.

Van Norstrand DW et al.

Circulation, 2012

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Cardiac ion channel mutations in the sudden infant death syndrome.

Klaver EC et al.

International Journal of Cardiology, 2011

Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.

Jiang JX

Current Molecular Medicine, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."