Patient-specific iPSC-derived cardiomyocytes reveal aberrant activation of Wnt/β-catenin signaling in SCN5A-related Brugada syndrome
D Cai, X Wang, Y Sun, H Fan, J Zhou, Z Yang… - Stem Cell Research & …, 2023 - Springer
Background Mutations in the cardiac sodium channel gene SCN5A cause Brugada
syndrome (BrS), an arrhythmic disorder that is a leading cause of sudden death and lacks …
syndrome (BrS), an arrhythmic disorder that is a leading cause of sudden death and lacks …
Patient-specific iPSC-derived cardiomyocytes reveal variable phenotypic severity of Brugada syndrome
Y Sun, J Su, X Wang, J Wang, F Guo, H Qiu, H Fan… - …, 2023 - thelancet.com
Summary Background Brugada syndrome (BrS) is a cardiac channelopathy that can result in
sudden cardiac death (SCD). SCN5A is the most frequent gene linked to BrS, but the …
sudden cardiac death (SCD). SCN5A is the most frequent gene linked to BrS, but the …
[HTML][HTML] Disease phenotypes and mechanisms of iPSC-derived cardiomyocytes from Brugada syndrome patients with a loss-of-function SCN5A mutation
Brugada syndrome (BrS) is one of the major causes of sudden cardiac death in young
people, while the underlying mechanisms are not completely understood. Here, we …
people, while the underlying mechanisms are not completely understood. Here, we …
Inhibition of Wnt/β‐catenin signaling upregulates Nav1.5 channels in Brugada syndrome iPSC‐derived cardiomyocytes
A Lu, R Gu, C Chu, Y Xia, J Wang… - Physiological …, 2023 - Wiley Online Library
Abstract The voltage‐gated Nav1. 5 channels mediate the fast Na+ current (I Na) in
cardiomyocytes initiating action potentials and cardiac contraction. Downregulation of I Na …
cardiomyocytes initiating action potentials and cardiac contraction. Downregulation of I Na …
[HTML][HTML] Studying Brugada syndrome with an SCN1B variants in human-induced pluripotent stem cell-derived cardiomyocytes
Background Among rare channelopathies BrS patients are at high risk of sudden cardiac
death (SCD). SCN5A mutations are found in a quarter of patients. Other rare gene mutations …
death (SCD). SCN5A mutations are found in a quarter of patients. Other rare gene mutations …
Loss of sodium current caused by a Brugada syndrome–associated variant is determined by patient-specific genetic background
R Martínez-Moreno, D Carreras, G Sarquella-Brugada… - Heart Rhythm, 2024 - Elsevier
Abstract Background Brugada syndrome (BrS) is an inherited cardiac arrhythmogenic
disease that predisposes patients to sudden cardiac death. It is associated with mutations in …
disease that predisposes patients to sudden cardiac death. It is associated with mutations in …
Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent …
N Salvarani, G Peretto, C Silvia, A Villatore… - International Journal of …, 2023 - mdpi.com
Brugada syndrome (BrS) is an inherited autosomal dominant cardiac channelopathy.
Pathogenic rare mutations in the SCN5A gene, encoding the alpha-subunit of the voltage …
Pathogenic rare mutations in the SCN5A gene, encoding the alpha-subunit of the voltage …
[HTML][HTML] Pathogenesis and drug response of iPSC-derived cardiomyocytes from two Brugada syndrome patients with different Nav1. 5-subunit mutations
Y Zhu, L Wang, C Cui, H Qin, H Chen… - Journal of Biomedical …, 2021 - ncbi.nlm.nih.gov
Brugada syndrome (BrS) is a complex genetic cardiac ion channel disease that causes a
high predisposition to sudden cardiac death. Considering that its heterogeneity in clinical …
high predisposition to sudden cardiac death. Considering that its heterogeneity in clinical …
Embryonic type Na+ channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome
SCN5A is abundant in heart and has a major role in I Na. Loss-of-function mutation in
SCN5A results in Brugada syndrome (BrS), which causes sudden death in adults. It remains …
SCN5A results in Brugada syndrome (BrS), which causes sudden death in adults. It remains …
A cellular model of Brugada syndrome with SCN10A variants using human-induced pluripotent stem cell-derived cardiomyocytes
Abstract Aims Brugada syndrome (BrS) is associated with a pronounced risk to develop
sudden cardiac death (SCD). Up to 21% of patients are related to mutations in SCN5A …
sudden cardiac death (SCD). Up to 21% of patients are related to mutations in SCN5A …
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