Zobrazeno 1 - 10
of 253
pro vyhledávání: '"Eric Schulze‐Bahr"'
Autor:
Anne Kayser, Sven Dittmann, Jassin Hamidi, Sandra D. Laufer, Ramona Krampe, Giulia Mearini, Arne Hansen, Eric Schulze-Bahr
Publikováno v:
Stem Cell Research, Vol 78, Iss , Pp 103446- (2024)
The heterozygous mutation c.155G > T in GNB2 clinically leads to sinus bradycardia and sinus node dysfunction. Here, patient-specific skin fibroblasts of the mutation carrier were used for Sendai virus reprogramming into human induced-pluripotent ste
Externí odkaz:
https://doaj.org/article/010884403d004d339cb7fde99c7823fd
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103223- (2023)
A published heterozygous gain-of-function variant in the KCNJ5 gene (p.Trp101Cys) encoding the G-protein-activated inward-rectifier potassium channel 4 subunit of the IK,ACh channel is associated with human sinus node dysfunction (SND). Differentiate
Externí odkaz:
https://doaj.org/article/ae2841dc037d4143b71111b0eea9de5e
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
BackgroundHypertrophic cardiomyopathy (HCM) is a serious hereditary cardiomyopathy. It is characterized morphologically by an increased left ventricular wall thickness and mass and functionally by enhanced global chamber function and myocellular cont
Externí odkaz:
https://doaj.org/article/c20267dcceb84d2baf026df4e6a9f8cf
Autor:
Greta Marie Pohl, Manuel Göz, Anna Gaertner, Andreas Brodehl, Tolga Cimen, Ardan M. Saguner, Eric Schulze-Bahr, Volker Walhorn, Dario Anselmetti, Hendrik Milting
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
BackgroundArrhythmogenic cardiomyopathy can be caused by genetic variants in desmosomal cadherins. Since cardiac desmosomal cadherins are crucial for cell-cell-adhesion, their correct localization at the plasma membrane is essential.MethodsNine desmo
Externí odkaz:
https://doaj.org/article/9c3c4fa7f44f46cdb70eece237231b8f
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
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 20, p 15290 (2023)
Mutations in the KCNJ5 gene, encoding one of the major subunits of cardiac G-protein-gated inwardly rectifying K+ (GIRK) channels, have been recently linked to inherited forms of sinus node dysfunction. Here, the pathogenic mechanism of the W101C KCN
Externí odkaz:
https://doaj.org/article/02ba55427b304d4987d230b3bd465842
Publikováno v:
BMC Cardiovascular Disorders, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Autopsies regularly aim to clarify the cause of death; however, relatives may directly benefit from autopsy results in the setting of heritable traits (“mortui vivos docent”). Case presentation A case of a sudden unexpected ca
Externí odkaz:
https://doaj.org/article/2c8f582417a94bd581106a043e4b1916
Autor:
Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 22, p 14215 (2022)
Cav1.3 voltage-gated L-type calcium channels (LTCCs) are involved in cardiac pacemaking, hearing and hormone secretion, but are also expressed postsynaptically in neurons. So far, homozygous loss of function mutations in CACNA1D encoding the Cav1.3
Externí odkaz:
https://doaj.org/article/21ab2a7f017542a4a07391735ba00caa
Autor:
Florian Doldi, Lucas Plagwitz, Lea Philine Hoffmann, Benjamin Rath, Gerrit Frommeyer, Florian Reinke, Patrick Leitz, Antonius Büscher, Fatih Güner, Tobias Brix, Felix Konrad Wegner, Kevin Willy, Yvonne Hanel, Sven Dittmann, Wilhelm Haverkamp, Eric Schulze-Bahr, Julian Varghese, Lars Eckardt
Publikováno v:
Journal of Personalized Medicine, Vol 12, Iss 7, p 1135 (2022)
Introduction: The long-QT syndrome (LQTS) is the most common ion channelopathy, typically presenting with a prolonged QT interval and clinical symptoms such as syncope or sudden cardiac death. Patients may present with a concealed phenotype making th
Externí odkaz:
https://doaj.org/article/482e6fadfcf542ee9aeee0e8a9e84670
Autor:
Melina Möller, Nicole Silbernagel, Eva Wrobel, Birgit Stallmayer, Elsie Amedonu, Susanne Rinné, Stefan Peischard, Sven G. Meuth, Bernhard Wünsch, Nathalie Strutz-Seebohm, Niels Decher, Eric Schulze-Bahr, Guiscard Seebohm
Publikováno v:
Cellular Physiology and Biochemistry, Vol 49, Iss 3, Pp 1238-1248 (2018)
Background/Aims: The hyperpolarization-activated cyclic nucleotide-gated cation channel HCN4 contributes significantly to the generation of basic cardiac electrical activity in the sinus node and is a mediator of modulation by β–adrenergic stimula
Externí odkaz:
https://doaj.org/article/aea5423fac8c48d99316e6c83049191e