Zobrazeno 1 - 10
of 1 776
pro vyhledávání: '"DESMOPLAKIN"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-24 (2024)
Abstract Arrhythmogenic cardiomyopathy (AC) is a common cause of sudden cardiac arrest and death in young adults. It can be induced by different types of mutations throughout the desmoplakin gene including the R2834H mutation in the extreme carboxyte
Externí odkaz:
https://doaj.org/article/b62ebef847be48b89fd25aa85fbf286b
Publikováno v:
Annals of Pediatric Cardiology, Vol 17, Iss 1, Pp 55-58 (2024)
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy associated with fibrofatty tissue replacement of the ventricular tissue. The disease can cause ventricular dysfunction and arrhythmias and can increase the risk of sudden cardiac deat
Externí odkaz:
https://doaj.org/article/05c4ec20c47942b49e20c0f6ec91f1d0
Autor:
Keisuke Otsubo, Naoko Sakashita, Yuki Nishimoto, Yo Sato, Takehisa Tsutsui, Katsunori Kobayashi, Kanzo Suzuki, Eri Segi-Nishida
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Desmoplakin (Dsp) is a component of desmosomal cell–cell junctions that interacts with the cadherin complex and cytoskeletal intermediate filaments. In addition to its function as an adhesion component, Dsp is involved in various biological process
Externí odkaz:
https://doaj.org/article/07bd43a4187c443fbaa5b98173376a26
Autor:
Favre, Bertrand1,2, Begré, Nadja1,2, Bouameur, Jamal-Eddine1,2, Lingasamy, Prakash1,2, Conover, Gloria M.3, Fontao, Lionel4, Borradori, Luca1 Luca.Borradori@insel.ch
Publikováno v:
PLoS ONE. 10/4/2018, Vol. 13 Issue 10, p1-17. 17p.
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)
Abstract Objective We conducted an investigation into the clinical and molecular characteristics of Arrhythmogenic left ventricular cardiomyopathy (ALVC) caused by a novel likely pathogenic mutation in an Iranian pedigree with sudden cardiac death (S
Externí odkaz:
https://doaj.org/article/1ca17080b113486bb046af485f7a3abe
Autor:
Gustavo A. Lemus Barrios, Jose P. Lopez‐Lopez, Stephany Barbosa‐Balaguera, Alejandro Mariño Correa
Publikováno v:
ESC Heart Failure, Vol 10, Iss 5, Pp 3190-3194 (2023)
Abstract The case of a 49‐year‐old man with acute onset of heart failure is presented. The initial work‐up showed a dilated cardiomyopathy with severely reduced left ventricular ejection fraction. In the differential diagnostic process, hyperte
Externí odkaz:
https://doaj.org/article/3e84322b5d4a4205aeebaf310b759320
Publikováno v:
Clinical, Cosmetic and Investigational Dermatology, Vol Volume 16, Pp 2737-2748 (2023)
Xiu-Jie Zhao,1 Chun-Yu Bai,2 Xiao-Yan Li,1 Lei Wang,2 Ren-Ping Wang,2 Yue Xia,1,2 Gang Liu,1 Hong-Liang Zhao,1,* Hong-Zun Xu2,* 1Department of Cardiology, The First Hospital of Hebei Medical University, Shijiazhuang, 050031, People’s Republ
Externí odkaz:
https://doaj.org/article/e418fd77b5e94051862dad86b643e72c
Autor:
Colin Kincaid, BS, Luke Horton, MD, Brian Cheung, MD, Ilhan Esse, BA, Irmina Gradus-Pizlo, MD, Natasha Atanaskova Mesinkovska, MD, PhD
Publikováno v:
JAAD Case Reports, Vol 36, Iss , Pp 56-59 (2023)
Externí odkaz:
https://doaj.org/article/4850b51eb00d423185dce7588fd2b244
Autor:
Nicholas Y. Tan, John R. Giudicessi, Jason R. Harvey, Samuel J. Asirvatham, Konstantinos C. Siontis
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
BackgroundPathogenic/Likely pathogenic variants in DSP-encoded desmoplakin are strongly associated with arrhythmogenic cardiomyopathy (ACM). However, their contribution towards sinus node dysfunction has not been well-delineated.Case summaryA 74-year
Externí odkaz:
https://doaj.org/article/1c6d8a356060492fb59d77f689a6344e
Autor:
Kang, Hyunook1, Weiss, Thomas M.2, Bang, Injin1, Weis, William I.3 bill.weis@stanford.edu, Choi, Hee-Jung1 choihj@snu.ac.kr
Publikováno v:
PLoS ONE. 1/25/2016, Vol. 11 Issue 1, p1-14. 14p.