Zobrazeno 1 - 10
of 505
pro vyhledávání: '"Christopher, Semsarian"'
Autor:
Babken Asatryan, Brittney Murray, Rafik Tadros, Marina Rieder, Ravi A. Shah, Ghaith Sharaf Dabbagh, Andrew P. Landstrom, Stephan Dobner, Patricia B. Munroe, Christopher M. Haggerty, Argelia Medeiros‐Domingo, Anjali T. Owens, Iftikhar J. Kullo, Christopher Semsarian, Tobias Reichlin, Andreas S. Barth, Dan M. Roden, Cynthia A. James, James S. Ware, C. Anwar A. Chahal
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)
Precision medicine, which among other aspects includes an individual's genomic data in diagnosis and management, has become the standard‐of‐care for Mendelian cardiovascular disease (CVD). However, early identification and management of asymptoma
Externí odkaz:
https://doaj.org/article/ff5b6bf384334df490087617c1fe6fde
Autor:
Seakcheng Lim, Melissa M. Mangala, Mira Holliday, Henrietta Cserne Szappanos, Samantha Barratt-Ross, Serena Li, Jordan Thorpe, Whitney Liang, Ginell N. Ranpura, Jamie I. Vandenberg, Christopher Semsarian, Adam P. Hill, Livia C. Hool
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 8 (2024)
Externí odkaz:
https://doaj.org/article/0597755221d841338cbe98d8ace2eb4a
Autor:
Emma S. Singer, Joshua Crowe, Mira Holliday, Julia C. Isbister, Sean Lal, Natalie Nowak, Laura Yeates, Charlotte Burns, Sulekha Rajagopalan, Ivan Macciocca, Ingrid King, Julie Wacker, Jodie Ingles, Robert G. Weintraub, Christopher Semsarian, Richard D. Bagnall
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-7 (2023)
Abstract There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional confirmation of splicing outco
Externí odkaz:
https://doaj.org/article/8fed1ba26d23493d97359693ba5f0785
Autor:
Henrietta Cserne Szappanos, Helena M. Viola, Danica W. Ito, Seakcheng Lim, Melissa Mangala, Mira Holliday, Samantha Barratt Ross, Christopher Semsarian, Adam Hill, Rose E. Dixon, Livia C. Hool
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Familial hypertrophic cardiomyopathy (FHC) patients are advised to avoid strenuous exercise due to increased risk of arrhythmias. Mice expressing the human FHC-causing mutation R403Q in the myosin heavy chain gene (MYH6) recapitulate the hum
Externí odkaz:
https://doaj.org/article/e1010dcf8ddf4f0397cc92001ff5aa96
Autor:
Alexandra Butters, Bianca Blanch, Anna Kemp-Casey, Judy Do, Laura Yeates, Felicity Leslie, Christopher Semsarian, Lee Nedkoff, Tom Briffa, Jodie Ingles, Joanna Sweeting
Publikováno v:
JMIR Research Protocols, Vol 12, p e48636 (2023)
BackgroundGenetic heart diseases such as hypertrophic cardiomyopathy can cause significant morbidity and mortality, ranging from syncope, chest pain, and palpitations to heart failure and sudden cardiac death. These diseases are inherited in an autos
Externí odkaz:
https://doaj.org/article/40cb86e656574b96bef15f51f79059a6
Autor:
Serena Li, Stuart Fraser, Ginell Ranpura, Seakcheng Lim, Emma S. Singer, Jeremy D.K. Parker, Joshua Crowe, Richard D. Bagnall, Zachary Laksman, Christopher Semsarian
Publikováno v:
Stem Cell Research, Vol 71, Iss , Pp 103153- (2023)
Variants in the sodium voltage-gated channel alpha subunit 5 gene (SCN5A) produce variable cardiac phenotypes including Brugada syndrome, conduction disease and cardiomyopathy. These phenotypes can lead to life-threatening arrhythmias, heart failure,
Externí odkaz:
https://doaj.org/article/3ff224fe6efa4bd6a9df71e6bd56f064
Autor:
Julia C. Isbister, MBBS, Belinda Gray, BSc (Med), MBBS, Sophie Offen, BSc, MBBS, Laura Yeates, BSc (hons), GradDipGenCouns, Chris Naoum, MBBS, PhD, Caroline Medi, BMed, PhD, Hariharan Raju, MBChB, PhD, Christopher Semsarian, MBBS, PhD, MPH, FHRS, Rajesh Puranik, MBBS, PhD, Raymond W. Sy, MBBS, PhD, FHRS
Publikováno v:
Heart Rhythm O2, Vol 4, Iss 1, Pp 34-41 (2023)
Background: Despite historically being considered a channelopathy, subtle structural changes have been reported in Brugada syndrome (BrS) on histopathology and cardiac magnetic resonance (CMR) imaging. It is not known if these structural changes prog
Externí odkaz:
https://doaj.org/article/ace11d4756d944a9b2bec5336a268f08
Autor:
Fergus Stafford, Neesha Krishnan, Ebony Richardson, Alexandra Butters, Sophie Hespe, Charlotte Burns, Belinda Gray, Caroline Medi, Natalie Nowak, Julia C. Isbister, Hariharan Raju, David Richmond, Mark P. Ryan, Emma S. Singer, Raymond W. Sy, Laura Yeates, Richard D. Bagnall, Christopher Semsarian, Jodie Ingles
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-14 (2022)
Abstract Background The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and management among consecutiv
Externí odkaz:
https://doaj.org/article/f184e1d0a01942f097115bc1973c0a47
Autor:
Blake Angell, Clara K Chow, Julie Redfern, Christopher Semsarian, Adrian Bauman, Simone Marschner, Saurabh Kumar, Janet Bray, Guoyan Yang, Paul M Middleton, Pramesh Kovoor, Garry Jennings, Sonali Munot, Andrew Coggins, Linh Ngo, Emily J Rugel, Quan Minh Dang, Zoe Rock
Publikováno v:
BMJ Open, Vol 13, Iss 7 (2023)
Background Bystander response, including cardiopulmonary resuscitation (CPR), is critical to out-of-hospital cardiac arrest (OHCA) survival. Nearly 30% of Australian residents were born overseas, and little is known about their preparedness to perfor
Externí odkaz:
https://doaj.org/article/5c68de277a994249a02fe9f0e98cff9b
Autor:
Arthur A. M. Wilde, Christopher Semsarian, Manlio F. Márquez, Alireza Sepehri Shamloo, Michael J. Ackerman, Euan A. Ashley, Back Sternick Eduardo, Héctor Barajas‐Martinez, Elijah R. Behr, Connie R. Bezzina, Jeroen Breckpot, Philippe Charron, Priya Chockalingam, Lia Crotti, Michael H. Gollob, Steven Lubitz, Naomasa Makita, Seiko Ohno, Martín Ortiz‐Genga, Luciana Sacilotto, Eric Schulze‐Bahr, Wataru Shimizu, Nona Sotoodehnia, Rafik Tadros, James S. Ware, David S. Winlaw, Elizabeth S. Kaufman, Takeshi Aiba, Andreas Bollmann, Jong‐Il Choi, Aarti Dalal, Francisco Darrieux, John Giudicessi, Mariana Guerchicoff, Kui Hong, Andrew D. Krahn, Ciorsti Mac Intyre, Judith A. Mackall, Lluís Mont, Carlo Napolitano, Pablo Ochoa Juan, Petr Peichl, Alexandre C. Pereira, Peter J. Schwartz, Jon Skinner, Christoph Stellbrink, Jacob Tfelt‐Hansen, Thomas Deneke
Publikováno v:
Journal of Arrhythmia, Vol 38, Iss 4, Pp 491-553 (2022)
Externí odkaz:
https://doaj.org/article/065b869d10df4d35a27b0f57e20fcc2b