Zobrazeno 1 - 10
of 2 806
pro vyhledávání: '"Scn5a"'
Autor:
Nicoletta Ventrella, Lorenzo Bianchini, Stefania Riva, Francesca Pizzamiglio, Maria Antonietta Dessanai, Fabrizio Tundo, Tommaso Sattin, Francesca De Lio, Selene Cellucci, Claudio Tondo
Publikováno v:
ESC Heart Failure, Vol 11, Iss 4, Pp 2399-2404 (2024)
Abstract We report the case of a 36‐year‐old woman who presented to the emergency department complaining of palpitations and asthenia. Investigations showed frequent ventricular ectopy and severe left ventricular ejection fraction impairment. She
Externí odkaz:
https://doaj.org/article/34e5e87244eb486f9459b57f74fbe165
Autor:
Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Viviana A. Ruiz-Pozo, Rafael Tamayo-Trujillo, Elius Paz-Cruz, Daniel Simancas-Racines, Rita Ibarra-Castillo, José Luis Laso-Bayas, Ana Karina Zambrano
Publikováno v:
BMC Cardiovascular Disorders, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background Ion channels, vital transmembrane protein complexes, regulate ion movement within cells. Germline variants in channel-encoding genes lead to channelopathies. The sodium channels in cardiac cells exhibit a structure of an alpha sub
Externí odkaz:
https://doaj.org/article/ccf41cb3d8374b2f8ae9a72656de2030
Autor:
Cristóbal Uribe, Mariana F. Nery, Kattina Zavala, Gonzalo A. Mardones, Gonzalo Riadi, Juan C. Opazo
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Cetaceans represent a natural experiment within the tree of life in which a lineage changed from terrestrial to aquatic habitats. This shift involved phenotypic modifications, representing an opportunity to explore the genetic bases of pheno
Externí odkaz:
https://doaj.org/article/5a27ee9702934e389ba4ea40c92a7c91
Autor:
Ning Ge, Rui Li, Min Liu, Wenxin Xia, Stephen T. O'Brien, Veronica McInerney, Joseph Galvin, Deirdre Ward, Catherine McGorrian, Timothy O'Brien, Sanbing Shen, Terence W. Prendiville
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 20 (2024)
Background Long‐QT syndrome is a primary cardiac ion channelopathy predisposing a patient to ventricular arrhythmia through delayed repolarization on the resting ECG. We aimed to establish a patient‐specific, human induced pluripotent stem cell (
Externí odkaz:
https://doaj.org/article/a5abb2f54b0f488792d176797764e91b
Autor:
Ryan Dexheimer, Amit Manhas, David Wu, Dipti Tripathi, Sze Yu Chan, Juana Li, Rebecca Yu, Nazish Sayed, Joseph C. Wu, Karim Sallam
Publikováno v:
Stem Cell Research, Vol 80, Iss , Pp 103498- (2024)
Dilated cardiomyopathy (DCM) is a disorder of cardiac ventricular dilation and contractile dysfunction that often progresses to heart failure. Multiple genes have been associated with DCM, including SCN5A which has been linked to 2 % of all DCM cases
Externí odkaz:
https://doaj.org/article/152ab00277fa4bd7914eb6e0ae918a1b
Autor:
Lavanya Gunamalai, Parul Singh, Brian Berg, Leilei Shi, Ernesto Sanchez, Alexa Smith, Ghislain Breton, Mark T. Bedford, Darius Balciunas, Ashish Kapoor
Publikováno v:
HGG Advances, Vol 6, Iss 1, Pp 100358- (2025)
Summary: Several empirical and theoretical studies suggest the presence of multiple enhancers per gene that collectively regulate gene expression, and that common sequence variation impacting on the activities of these enhancers is a major source of
Externí odkaz:
https://doaj.org/article/b8653cdc1e774e4ebcd1bd92602ac403
Akademický článek
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Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
BackgroundLacosamide is frequently used as a mono- or adjunctive therapy for the treatment of adults with epilepsy. Although lacosamide is known to act on both neuronal and cardiac sodium channels, potentially leading to cardiac arrhythmias, includin
Externí odkaz:
https://doaj.org/article/8606a307d3444e388c792fc3400773cd
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
BackgroundBrugada syndrome (BrS) is a channelopathy that can lead to sudden cardiac death in the absence of structural heart disease. Patients with BrS can be asymptomatic or present with symptoms secondary to polymorphic ventricular tachycardia or v
Externí odkaz:
https://doaj.org/article/4a804055a8e04162826031758d9a82d2
Publikováno v:
Biochemistry and Biophysics Reports, Vol 37, Iss , Pp 101653- (2024)
Left ventricular noncompaction cardiomyopathy (LVNC) is a cardiovascular disease characterized by arrhythmia and heart failure. In this study, LVNC myocardial samples were collected from patients who underwent heart transplantation and were analyzed
Externí odkaz:
https://doaj.org/article/2b80e00c4b654261bcbcae4eb87a28fb