ArticleJournal of cellular and molecular medicine2018
Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death.
Article in Journal of cellular and molecular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Genetic Basis of Brugada Syndrome.Biomedicines · 2025Review
- Review
- GPD1L-A306del modifies sodium current in a family carrying the dysfunctional SCN5A-G1661R mutation associated with Brugada syndrome.Pflugers Archiv : European journal of physiology · 2024Article
- The role of GPD1L, a sodium channel interacting gene, in the pathogenesis of Brugada Syndrome.Frontiers in medicine · 2023Article
- Lipopolysaccharide Modifies Sodium Current Kinetics through ROS and PKC Signalling in Induced Pluripotent Stem-Derived Cardiomyocytes from Brugada Syndrome Patient.Journal of cardiovascular development and disease · 2022Article
- NovelFrontiers in cardiovascular medicine · 2021Article
- Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.Frontiers in medicine · 2021Article
- Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope.Journal of human genetics · 2019Article
- Ion Channel Disorders and Sudden Cardiac Death.International journal of molecular sciences · 2018Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cardiac conduction disease (CCD) is a serious disorder and the leading cause of mortality worldwide. It is characterized by arrhythmia, syncope or even sudden cardiac death caused by the dysfunction of cardiac voltage-gated channel. Previous study has demonstrated that mutations in genes encoding voltage-gated channel and related proteins were the crucial genetic lesion of CCD. In this study, we employed whole-exome sequencing to explore the potential causative genes in a Chinese family with ventricular tachycardia and syncope. A novel nonsense mutation (c.565C>T/p.R189X) of glycerol-3-phosphate dehydrogenase-like (GPD1L) was identified and co-segregated with the affected family members. GPD1L is a crucial interacting protein of SCN5A, a gene encoded sodium channel α-subunit Na
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