Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Kcnj2 gene"'
Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome
Autor:
Jiaxuan Wang, Qianqian Qu, Xianzhao Zheng, Xiaoli Ma, Wenhao Cui, Zheng Lv, Cong Hu, Shiyao Li, Jiongbo Zhao, Haidong Lv
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
PurposeTo explore the clinical, muscle pathological, and pathogenic gene mutation characteristics of Andersen-Tawil Syndrome (ATS) and enhance the understanding of ATS among clinical practitioners.MethodsRetrospective analysis of clinical data and mu
Externí odkaz:
https://doaj.org/article/f59b5cafd35d476797c09df3e8fe5066
Autor:
Maria Elena Onore, Esther Picillo, Paola D’Ambrosio, Salvatore Morra, Vincenzo Nigro, Luisa Politano
Publikováno v:
Biomolecules, Vol 14, Iss 4, p 507 (2024)
Andersen–Tawil syndrome (ATS) is a multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, prolonged QT interval, and facial dysmorphisms occurring in the first/second decade of life. High phenotypic variability and
Externí odkaz:
https://doaj.org/article/4fac10127a764752a311d7b1ad0baf95
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features. Pathogenic
Externí odkaz:
https://doaj.org/article/9d1f245f12b344ff9eba84c67a09cf9a
Akademický článek
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Akademický článek
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Akademický článek
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Autor:
Masaki Sekiguchi, Mai Inagaki, Hiroshi Yomogita, Naoyuki Miyasaka, Takayuki Tatsumi, Asuka Hirose, Takuyuki Kubo
Publikováno v:
Journal of Obstetrics and Gynaecology Research. 47:446-451
Andersen-Tawil syndrome (ATS) is a rare hereditary long QT syndrome type 7 caused by a missense mutation in the KCNJ2 gene. ATS is characterized by ventricular arrhythmia, periodic limb paralysis and minor external malformations. Although only three
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::edbb8633ab463799fb18d1738273f484
https://doi.org/10.1111/jog.14553
https://doi.org/10.1111/jog.14553
Autor:
Raimundo Barbosa-Barros, Mauricio Scanavacca, Rodrigo Daminello-Raimundo, Kjell Nikus, Carlos Alberto Pastore, Andrés Ricardo Pérez-Riera, Pedro Brugada, Luiz Carlos de Abreu, Nelson Samesina
Publikováno v:
Cardiology in Review. 29:165-177
Andersen-Tawil syndrome (ATS) is a very rare orphan genetic multisystem channelopathy without structural heart disease (with rare exceptions). ATS type 1 is inherited in an autosomal dominant fashion and is caused by mutations in the KCNJ2 gene, whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb1d2f3853135be50e64579555f837c5
https://doi.org/10.1097/crd.0000000000000326
https://doi.org/10.1097/crd.0000000000000326
Publikováno v:
Journal of Interventional Cardiac Electrophysiology.
Andersen-Tawil syndrome type 1 is a rare autosomal dominant disease caused by a KCNJ2 gene mutation and clinically characterized by dysmorphic features, periodic muscular paralysis, and frequent ventricular arrhythmias (VAs). Although polymorphic and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d3fa78b5f407f10bc2b9226a13c8a1d
https://doi.org/10.1007/s10840-021-01077-w
https://doi.org/10.1007/s10840-021-01077-w
Autor:
Rosalie M.E. Meijer van Putten, Isabella eMengarelli, Kaomei eGuan, Jan G. Zegers, Antoni CG van Ginneken, Arie O Verkerk, Ronald eWilders
Publikováno v:
Frontiers in Physiology, Vol 6 (2015)
Human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) are widely used in studying basic mechanisms of cardiac arrhythmias that are caused by ion channelopathies. Unfortunately, the action potential profile of hiPSC-CMs—and conseque
Externí odkaz:
https://doaj.org/article/a2f59ef593a8439a828407c804c0cde8