Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Igor Splawski"'
Autor:
Jun-ichi Nishimura, Kiyoshi Ando, Masayoshi Masuko, Hideyoshi Noji, Yoshikazu Ito, Jiri Mayer, Laimonas Griskevicius, Christoph Bucher, Florian Müllershausen, Peter Gergely, Izabela Rozenberg, Anna Schubart, Raghav Chawla, Jean-Michel Rondeau, Michael Roguska, Igor Splawski, Mark T. Keating, Leslie Johnson, Rambabu Danekula, Morten Bagger, Yoko Watanabe, Börje Haraldsson, Yuzuru Kanakura
Publikováno v:
Haematologica, Vol 107, Iss 6 (2022)
Externí odkaz:
https://doaj.org/article/c663a2a787414f439fa282c457416a6b
Autor:
Igor Splawski, David E. Clapham, Stephanie C. Stotz, Allison Cherry, Mark T. Keating, Dana S. Yoo
Publikováno v:
Journal of Biological Chemistry. 281:22085-22091
Autism spectrum disorders (ASD) are neurodevelopmental conditions characterized by impaired social interaction, communication skills, and restricted and repetitive behavior. The genetic causes for autism are largely unknown. Previous studies implicat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6da36420d93b8a26002e14a4e8572496
https://doi.org/10.1074/jbc.m603316200
https://doi.org/10.1074/jbc.m603316200
Autor:
Pradeep Kumar, Alan H. Beggs, Katherine W. Timothy, Niels Decher, Michael C. Sanguinetti, Igor Splawski, Mark T. Keating, Frank B. Sachse
Publikováno v:
Proceedings of the National Academy of Sciences. 102:8089-8096
Timothy syndrome (TS) is a multisystem disorder that causes syncope and sudden death from cardiac arrhythmias. Prominent features include congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities, and autism. All
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af34f76c6a1a83b790638a2b2bc6d1bd
https://doi.org/10.1073/pnas.0502506102
https://doi.org/10.1073/pnas.0502506102
Autor:
Monica Chadha, Igor Splawski, Richard S. Judson, David J. Tester, J. Claiborne Stephens, Michael J. Ackerman, Melissa L. Will, Mark T. Keating, Gregg S. Jones, Mark E. Curran, Jonathan C. Makielski, Christopher R. Burrow, Chuanbo Xu, Katherine W. Timothy
Publikováno v:
Heart Rhythm. 1:600-607
Objectives The purpose of this study was to determine the prevalence and spectrum of nonsynonymous polymorphisms (amino acid variants) in the cardiac sodium channel among healthy subjects. Background Pathogenic mutations in the cardiac sodium channel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226bae01f5ed984d17984492ad0cfb35
https://doi.org/10.1016/j.hrthm.2004.07.013
https://doi.org/10.1016/j.hrthm.2004.07.013
Autor:
Katherine W. Timothy, Helen Tager-Flusberg, Carlo Napolitano, Mark T. Keating, Michael C. Sanguinetti, Peter J. Schwartz, Raffaella Bloise, Silvia G. Priori, Leah M. Sharpe, Robert M. Joseph, Pradeep Kumar, Karen Condouris, Igor Splawski, Niels Decher
Publikováno v:
Cell. 119:19-31
Ca(V)1.2, the cardiac L-type calcium channel, is important for excitation and contraction of the heart. Its role in other tissues is unclear. Here we present Timothy syndrome, a novel disorder characterized by multiorgan dysfunction including lethal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f457ca17fa7324f35426cc7c8d3cf3e
https://doi.org/10.1016/j.cell.2004.09.011
https://doi.org/10.1016/j.cell.2004.09.011
Autor:
Michael C. Sanguinetti, Mark T. Keating, Katherine W. Timothy, Peter D. Westenskow, Igor Splawski
Publikováno v:
Circulation. 109:1834-1841
Background— Long QT syndrome (LQTS) predisposes affected individuals to sudden death from cardiac arrhythmias. Although most LQTS individuals do not have cardiac events, significant phenotypic variability exists within families. Probands can be ver
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a442ad1b5426bf0bdae1dec96b03bd05
https://doi.org/10.1161/01.cir.0000125524.34234.13
https://doi.org/10.1161/01.cir.0000125524.34234.13
Autor:
Jennifer L. Robinson, Peter J. Schwartz, Michael H. Lehmann, G. Michael Vincent, Igor Splawski, Arthur J. Moss, Silvia G. Priori, Jiaxiang Shen, Mark T. Keating, Katherine W. Timothy, Jeffrey A. Towbin
Publikováno v:
Circulation. 102:1178-1185
Background —Long-QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on ECG and presence of syncope, seizures, and sudden death. Five genes have been implicated in Romano-Ward syndrome, the autosomal dom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694dea925bbe19ce8ef26a2c3d24bdb5
https://doi.org/10.1161/01.cir.102.10.1178
https://doi.org/10.1161/01.cir.102.10.1178
Autor:
Peter J. Schwartz, T. De Jager, Mark E. Curran, M T Keating, J.A. Towbin, J. M. Millholland, Gregory M. Landes, Igor Splawski, Katherine W. Timothy, T. J. VanRaay, Donald L. Atkinson, Timothy C. Burn, Timothy D. Connors, Qing Wang, Vincent Gm, Jiaxiang Shen, Arthur J. Moss
Publikováno v:
Nature Genetics. 12:17-23
Genetic factors contribute to the risk of sudden death from cardiac arrhythmias. Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia. KVLQT1 is strongly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92869456f5ca6916ed214d37ee56ad42
https://doi.org/10.1038/ng0196-17
https://doi.org/10.1038/ng0196-17
Autor:
Qing Kenneth Wang, Mark T. Keating, Arthur J. Moss, Zhizhong Li, Jennifer L. Robinson, Jiaxiang Shen, Igor Splawski, Donald L. Atkinson, Jeffrey A. Towbin
Publikováno v:
Cell. 80(5):805-811
Long OT syndrome (LOT) is an inherited disorder that causes sudden death from cardiac arrhythmias, specifically torsade de pointes and ventricular fibrillation. We previously mapped three LQT loci: LQT1 on chromosome 11p15.5, LQT2 on 7835-36, and LQT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f12f1be71e94fe93f67db6f39175e99c
Autor:
Changan Jiang, Donald Atkinson, Jeffrey A. Towbin, Igor Splawski, Michael H. Lehmann, Hua Li, Katherine Timothy, R. Thomas Taggart, Peter J. Schwartz, G. Michael Vincent, Arthur J. Moss, Mark T. Keating
Publikováno v:
Nature Genetics. 8:141-147
Cardiac arrhythmias cause sudden death in 300,000 United States citizens every year. In this study, we describe two new loci for an inherited cardiac arrhythmia, long QT syndrome (LQT). In 1991 we reported linkage of LQT to chromosome 11p15.5. In thi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0f2ebead46449f88b2485aca221491b
https://doi.org/10.1038/ng1094-141
https://doi.org/10.1038/ng1094-141