Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Britt Maria Beckmann"'
Autor:
Susanne Rinné, Annemarie Oertli, Claudia Nagel, Philipp Tomsits, Tina Jenewein, Stefan Kääb, Silke Kauferstein, Axel Loewe, Britt Maria Beckmann, Niels Decher
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1350 (2023)
The KCNQ1 gene encodes the α-subunit of the cardiac voltage-gated potassium (Kv) channel KCNQ1, also denoted as Kv7.1 or KvLQT1. The channel assembles with the ß-subunit KCNE1, also known as minK, to generate the slowly activating cardiac delayed r
Externí odkaz:
https://doaj.org/article/756cf7ea2a0e4900a17133d511bd2adf
Autor:
Stefanie Scheiper-Welling, Paolo Zuccolini, Oliver Rauh, Britt-Maria Beckmann, Christof Geisen, Anna Moroni, Gerhard Thiel, Silke Kauferstein
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)
Abstract Background Alterations in the SCN5A gene encoding the cardiac sodium channel Nav1.5 have been linked to a number of arrhythmia syndromes and diseases including long-QT syndrome (LQTS), Brugada syndrome (BrS) and dilative cardiomyopathy (DCM)
Externí odkaz:
https://doaj.org/article/ad453eec9e6e429ea494e5a91f3e24b4
Autor:
Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel, Silke Kauferstein
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-8 (2017)
Abstract Background Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence vari
Externí odkaz:
https://doaj.org/article/b84d13964441469d91a21f0859f29f42
Autor:
Sunil Yeruva, Konstanze Stangner, Anna Jungwirth, Matthias Hiermaier, Maria Shoykhet, Daniela Kugelmann, Michael Hertl, Shohei Egami, Norito Ishii, Hiroshi Koga, Takashi Hashimoto, Michael Weis, Britt Maria Beckmann, Ruth Biller, Dominik Schüttler, Stefan Kääb, Jens Waschke
AimsArrhythmogenic cardiomyopathy (AC) is a severe heart disease predisposing to ventricular arrhythmias and sudden cardiac death caused by mutations affecting intercalated disc (ICD) proteins and aggravated by physical exercise. Recently, autoantibo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b2c3c88c69207e6502a01398cc8bc6d3
https://doi.org/10.1101/2023.02.08.527624
https://doi.org/10.1101/2023.02.08.527624
Autor:
Annemarie Oertli, Susanne Rinné, Robin Moss, Stefan Kääb, Gunnar Seemann, Britt-Maria Beckmann, Niels Decher
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 3, p 1112 (2021)
KCNQ1 encodes the voltage-gated potassium (Kv) channel KCNQ1, also known as KvLQT1 or Kv7.1. Together with its ß-subunit KCNE1, also denoted as minK, this channel generates the slowly activating cardiac delayed rectifier current IKs, which is a key
Externí odkaz:
https://doaj.org/article/d3e4a3ef7b4840b993bf83c1b951cb2f
Autor:
Dominik S. Westphal, David Federle, Alexander Steger, Tanja Vodermeier, Stefanie Scheiper-Welling, Tina Jenewein, Britt-Maria Beckmann, Silke Kauferstein, Eimo Martens, Franziska Hahn
Publikováno v:
Mammalian genome : official journal of the International Mammalian Genome Society.
The number of cardiologically relevant genetic findings will continue to increase. This is due to the use of high-throughput sequencing techniques and the critical role of incidental findings in cardiac disease genes. Telemedicine can be a useful dia
Autor:
Nadine Vonderlin, Marcus Hacker, Andrei Todica, Alexander Becker, Christoph Rischpler, Reza Wakili, Julia Schiller, Britt-Maria Beckmann, Stefan M. Sattler, Tienush Rassaf, Stefan Kääb, Dobromir Dobrev, Mathias J. Zacherl, Konstantinos D. Rizas, Johannes Siebermair, Sebastian Lehner, Corona Metz
Publikováno v:
International Journal of Cardiology. 312:129-135
Aims Impaired myocardial sympathetic innervation assessed by 123Iodine-Metaiodobenzylguanidine (123I-MIBG) scintigraphy is associated with cardiac events. Since regional disparities of structural abnormalities are common in inherited arrhythmia syndr
Autor:
Dominik S. Westphal, Michael Hauser, Britt-Maria Beckmann, Cordula M. Wolf, Gabriele Hessling, Renate Oberhoffer-Fritz, Annette Wacker-Gussmann
Publikováno v:
Journal of Clinical Medicine. 11:6880
Introduction: The standard obstetric definition of fetal bradycardia is a sustained fetal heart rate < 110 bpm over at least 10 min. Fetal bradycardia can be the first and only prenatal presentation of a heart disease. We present an overview on diffe
Autor:
Johannes, Siebermair, Sebastian, Lehner, Stefan M, Sattler, Konstantinos D, Rizas, Britt-Maria, Beckmann, Alexander, Becker, Julia, Schiller, Corona, Metz, Mathias, Zacherl, Nadine, Vonderlin, Tienush, Rassaf, Dobromir, Dobrev, Christoph, Rischpler, Stefan, Kääb, Marcus, Hacker, Andrei, Todica, Reza, Wakili
Publikováno v:
International journal of cardiology. 312
Impaired myocardial sympathetic innervation assessed byWe assessed ventricular sympathetic innervation (LV, RV and planar heart/mediastinum-ratios, and washout-rates) byWe demonstrated that chamber-specific
Publikováno v:
Aktuelle Kardiologie. 7:184-189
ZusammenfassungSeit Februar 2010 ist das Gendiagnostikgesetz in Kraft getreten. Das grundsätzlich begrüßenswerte Gesetz bereitet jedoch bei gesetzeskonformer Umsetzung im klinischen Alltag zum Teil erhebliche Probleme. Einige dieser Schwierigkeite