Revisión narrativa del efecto del gen SCN5A en el síndrome del intestino irritable by Diego Yahir Arriaga Izabal

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Cellular-level analyses of SCN5A mutations in left ventricular noncompaction cardiomyopathy suggest electrophysiological mechanisms for ventricular tachycardia by Yanfen Li, Shenghua Liu, Jian Huang, Yuanyuan Xie, Aijie Hou, Yingjie Wei

Subjects: “…SCN5A…”
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Pathogenic SCN5A Mutation and Thyrotoxicosis-Related Neurological Syndrome: Casual or Causal Relationship? by Yangqi Xu, Lin Zhao, Jihong Dong, Jingjing Jiang, Lirong Jin

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Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant by 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

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Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature by T. Robyns, MD., D. Nuyens, MD., PhD., L. Van Casteren, MD., A. Corveleyn, PhD., T. De Ravel, MD., PhD., H. Heidbuchel, MD., PhD., R. Willems, MD., PhD.

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Generation of two iPSC lines from dilated cardiomyopathy patients with pathogenic variants in the SCN5A gene by Ryan Dexheimer, Amit Manhas, David Wu, Dipti Tripathi, Sze Yu Chan, Juana Li, Rebecca Yu, Nazish Sayed, Joseph C. Wu, Karim Sallam

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A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions by Xiaozhi Gao, BS, Dan Ye, MD, Wei Zhou, MD, David J. Tester, BS, Michael J. Ackerman, MD, PhD, John R. Giudicessi, MD, PhD

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“Pill-in-the-Pocket” Treatment of Propafenone Unmasks ECG Brugada Pattern in an Atrial Fibrillation Patient With a Common SCN5A R1193Q Polymorphism by Linling Li, Yanfei Ruan, Nian Liu, Qianqian Zhao, Mengxia Zhang, Xin Li, Song Zuo, Jiang Le, Kui Wu, Rong Bai, Changsheng Ma

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EGCG Alleviates Obesity-Induced Myocardial Fibrosis in Rats by Enhancing Expression of SCN5A by Haoan Yi, Cong Liu, Cong Liu, Jing Shi, Shuo Wang, Haoxin Zhang, Yongshu He, Jianping Tao, Shude Li, Shude Li, Renfa Zhang

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Reduced current density, partially rescued by mexiletine, and depolarizing shift in activation of SCN5A W374G channels as a cause of severe form of Brugada syndrome by Tadashi Nakajima, Tommy Dharmawan, Reika Kawabata‐Iwakawa, Shuntaro Tamura, Hiroshi Hasegawa, Takashi Kobari, Masaki Ota, Shoichi Tange, Masahiko Nishiyama, Yoshiaki Kaneko, Masahiko Kurabayashi

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Case Report: Lacosamide unmasking SCN5A-associated Brugada syndrome in a young female with epilepsy by Ying-Chi Shen, Jen-Chueh Wu, Ting-Tse Lin, Kai-Chung Chang, Jen-Jen Su, Jyh-Ming Jimmy Juang

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Identification of rare heterozygous linkage R965C‐R1309H mutations in the pore‐forming region of SCN5A gene associated with complex arrhythmia by Yubi Lin, Jiading Qin, Yuhui Shen, Jiana Huang, Zuoquan Zhang, ZhiLing Zhu, Huifang Lu, Yin Huang, Yuelan Yin, Ani Wang, Lizi Jin, Zhenyu Hu, Xiufang Lin, Bin Jiang

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Genetic basis of Brugada syndrome by Minoru Horie, MD, PhD, Seiko Ohno, MD, PhD

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Sex‐Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome by Yoshiyasu Aizawa, Taishi Fujisawa, Yoshinori Katsumata, Shun Kohsaka, Akira Kunitomi, Seiko Ohno, Keiko Sonoda, Hidemori Hayashi, Rintaro Hojo, Seiji Fukamizu, Satoshi Nagase, Shogo Ito, Kazuaki Nakajima, Takahiko Nishiyama, Takehiro Kimura, Yasuo Kurita, Yoshiko Furukawa, Seiji Takatsuki, Satoshi Ogawa, Yuji Nakazato, Masataka Sumiyoshi, Kenjiro Kosaki, Minoru Horie, Keiichi Fukuda

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In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome by Hung Manh Pham, Duy Phuong Dang, Thanh Dat Ta, Thi Phuong Le, Dinh Phong Phan, Hoai An Trinh, Tuan Viet Tran, Thi Lan Anh Luong, Ha Minh Nguyen, The‐Hung Bui, Thinh Huy Tran, Thanh Van Ta, Van‐Khanh Tran

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CRISPR‐Mediated Expression of the Fetal Scn5a Isoform in Adult Mice Causes Conduction Defects and Arrhythmias by Paul D. Pang, Katherina M. Alsina, Shuyi Cao, Amrita B. Koushik, Xander H.T. Wehrens, Thomas A. Cooper

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Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh by Md. Zahidus Sayeed, Md. Abdus Salam, Md. Zahirul Haque, A.K.M. Monwarul Islam

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IRX3 variant as a modifier of Brugada syndrome with frequent ventricular fibrillation by Yoshitaka Kimura, MD, Takeshi Aiba, MD, PhD, Tetsuo Sasano, MD, PhD, Tetsushi Furukawa, MD, PhD, Kengo Kusano, MD, PhD, Wataru Shimizu, MD, PhD

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LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype by Michael J. Ackerman, David J. Tester, Carmen R. Valdivia, Bi-Hua Tan, Jonathan C. Makielski, Matteo Vatta, Argelia Medeiros-Domingo, Jianding Cheng, David W. Van Norstrand

Subjects: “…long-QT syndrome, genetics, ion channels, SCN5A, syntrophin.…”
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H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters by Hiroya Matsumura, Yukiko Nakano, Hidenori Ochi, Yuko Onohara, Akinori Sairaku, Takehito Tokuyama, Shunsuke Tomomori, Chikaaki Motoda, Michitaka Amioka, Naoya Hironobe, Masaaki Toshishige, Shinya Takahashi, Katsuhiko Imai, Taijiro Sueda, Kazuaki Chayama, Yasuki Kihara

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