scn5a - Robuta Search

https://pubmed.ncbi.nlm.nih.gov/31627867/ Role of SCN5A coding and non-coding sequences in Brugada syndrome onset: What's behind the scenes? The absence of genotype-phenotype concordance within all the identified genetic variants in this family gives extra evidences about the complexity of the... https://pubmed.ncbi.nlm.nih.gov/11748104/ Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a... We conclude that the same mutation in the SCN5A gene can lead either to Brugada syndrome or to an isolated cardiac conduction defect. Our findings suggest that... https://pubmed.ncbi.nlm.nih.gov/19251209/ Type of SCN5A mutation determines clinical severity and degree of conduction slowing in... In loss-of-function SCN5A channelopathies, patients carrying T and M(inactive) mutations develop a more severe phenotype than those with M(active) mutations.... https://researchconnect.buffalo.edu/en/publications/dual-variation-in-scn5a-and-cacnb2b-underlies-the-development-of-/ Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without... https://scholarworks.indianapolis.iu.edu/items/21e65946-c599-464a-8d05-ce8edb00db2e Utilizing Multiple in Silico Analyses to Identify Putative Causal SCN5A Variants in Brugada Syndrome Brugada syndrome (BrS) is an inheritable sudden cardiac death disease mainly caused by SCN5A mutations. Traditional approaches can be costly and time-consuming... https://iro.uiowa.edu/esploro/outputs/journalArticle/Short-SCN5A-Transcript-Yields-a-NaV15/9985146115302771?institution=01IOWA_INST&skipUsageReporting=true&recordUsage=false Short SCN5A Transcript Yields a NaV1.5 Fragment Influencing Cardiac Metabolism - University of Iowa https://pubmed.ncbi.nlm.nih.gov/29728395/ SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain... https://boris-portal.unibe.ch/entities/publication/6f24f9ff-c054-4835-b8fd-b45cfb07d0e0 Gain-of-Function Mutation of the SCN5A Gene Causes Exercise-Induced Polymorphic Ventricular... gain of function https://blogs.bmj.com/jmg/2022/06/15/association-between-scn5a-r225q-variant-and-dilated-cardiomyopathy-potential-role-of-intracellular-ph-and-wnt-%CE%B2-catenin-pathway/ Association between SCN5A R225Q variant and dilated cardiomyopathy: potential role of intracellular... Feb 23, 2026 - We found that the phenotype of dilated cardiomyopathy results from the interaction of genetic mutations (SCN5A R225Q variant) and environmental factors (age... https://research.manchester.ac.uk/en/publications/mechanistic-links-between-na-channel-scn5a-mutations-and-impaired/ Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick... https://severus.dbmi.pitt.edu/wiki-MPM/index.php/pair/view/150483/6331 TEKT4 and SCN5A - Wiki-MPM Wiki-wiki: a wiki resource centered on human protein-protein interactions wiki mpm https://pubmed.ncbi.nlm.nih.gov/20188230/ To the editor--the compendium of SCN5A mutations To the editor--the compendium of SCN5A mutations to the editor compendium mutations