Výsledky vyhledávání - "Cai-lian Kang"

Congenital long QT syndrome caused by the F275S KCNQ1 mutation: Mechanism of impaired channel function

Autor: Rong Du, Cai-lian Kang, Siming Guan, Shou-yan Zhang, Bin Wang, Li Tian, J. Yang, Xue-Lin Chen, Zifang Song, Qiu-Mei Xu, Wei Li, Qiufen Wang, Qin-Mei Ke

Publikováno v: Biochemical and Biophysical Research Communications. 380:127-131

Congenital long QT syndrome is characterized by a prolongation of ventricular repolarization and recurrent episodes of life-threatening ventricular tachyarrhythmias, often leading to sudden death. We previously identified a missense mutation F275S lo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a7249504347996a7f4cd3cfdc8730f
https://doi.org/10.1016/j.bbrc.2009.01.051

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Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome

Autor: Guo-hui Yuan, Rong Du, Shou-yan Zhang, Wei Li, Cai-lian Kang, Li Tian, Fa-xin Ren, Le Gui, Jin Li, J. Yang

Publikováno v: Frontiers of medicine in China. 1(3)

Long QT syndrome (LQTS) is the prototype of the cardiac ion channelopathies, which cause syncope and sudden death. Inherited LQTS is represented by the autosomal dominant Romano-ward syndrome (RWS), which is not accompanied by congenital deafness, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f67859291ec56d758d72b079227499c
https://pubmed.ncbi.nlm.nih.gov/24573873

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[Relationship between congenital long QT syndrome and Brugada syndrome gene mutation]

Autor: Rong, Du, Fa-xin, Ren, Jun-guo, Yang, Guo-hui, Yuan, Shou-yan, Zhang, Cai-lian, Kang, Wei, Li, Le, Gui, Jing, Li

Publikováno v: Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae. 27(3)

To investigate the molecular pathology in families with long QT syndrome (LQTS) including Jervell-Longe-Nielsen syndrome (JLNS) and Romano-ward syndrome (RWS) and Brugada syndrome (BS) in Chinese population.Polymerase chain reaction and DNA sequencin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4168e5376c5189dd8a3562551fe9ba0f
https://pubmed.ncbi.nlm.nih.gov/16038262

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[Mutation analysis of a Chinese family with inherited long QT syndrome]

Autor: Rong, Du, Jun-guo, Yang, Wei, Li, Le, Gui, Guo-hui, Yuan, Cai-lian, Kang, Fa-xin, Ren, Shou-yan, Zhang

Publikováno v: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 22(1)

To identify the mutation of a Chinese family with inherited long QT syndrome(LQTS).The disease-causing gene was tentatively determined in light of the clinical manifestations and electrophysiological properties, and then polymerase chain reaction and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::98ac95d62ab9289cb542171531cde130
https://pubmed.ncbi.nlm.nih.gov/15696484

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[PCR site-directed mutagenesis of long QT syndrome KCNQ1 gene in vitro]

Autor: Wei, Li, Jun-Guo, Yang, Fa-Xin, Ren, Cai-Lian, Kang, Shou-Yan, Zhang

Publikováno v: Yi chuan = Hereditas. 26(5)

To study PCR site-directed mutagenesis of long QT syndrome KCNQ1 gene in vitro. The site-directed mutagenesis of LQTS gene KCNQ1 was made by PCR. Two sets of primers were designed according to the sequence of KCNQ1 cDNA, and mismatch was introduced i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b95262e1d762912cf23ac6358a886564
https://pubmed.ncbi.nlm.nih.gov/15640067

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