Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Dominik S. Westphal"'
Autor:
Kate L. Thomson, Connie Jiang, Ebony Richardson, Dominik S. Westphal, Tobias Burkard, Cordula M. Wolf, Matteo Vatta, Steven M. Harrison, Jodie Ingles, Connie R. Bezzina, Brett M. Kroncke, Jamie I. Vandenberg, Chai-Ann Ng
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100270- (2024)
Summary: Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes, there is insufficient evidence to make a definitive genetic di
Externí odkaz:
https://doaj.org/article/45cd34fb97534a84883eace8c131e642
Publikováno v:
Case Reports in Cardiology, Vol 2023 (2023)
Background. Atrial fibrillation (AF) is a common arrhythmia in elderly patients and is associated with increased risk of mortality. The pathogenesis of AF is complex and based on multiple genetic and environmental factors. Genome-wide association stu
Externí odkaz:
https://doaj.org/article/7a934127c8754d6fb9f01267de5ad56d
Autor:
Zheng Yie Yap, Yo Han Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee, Lita Duraine, Ekkehard Wilichowski, Kate Wilson, Johannes A. Mayr, Matias Wagner, Hong Li, Usha Kini, Emily Davis Black, Kristin G. Monaghan, James R. Lupski, Sian Ellard, Dominik S. Westphal, Tamar Harel, Wan Hee Yoon
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-21 (2021)
Abstract Background ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane-anchored protein involved in diverse processes including mitochondrial dynamics, mitochondrial DNA organization, and cholesterol m
Externí odkaz:
https://doaj.org/article/0d5b7ae4a6ea4c1ebee8d4fe1f9fe5f7
Autor:
Martin Krenn, Margot Ernst, Matthias Tomschik, Marco Treven, Matias Wagner, Dominik S. Westphal, Thomas Meitinger, Ekaterina Pataraia, Fritz Zimprich, Susanne Aull‐Watschinger
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 11, Pp 2317-2322 (2019)
Abstract Variants in GABRA1 have been associated with different epilepsies ranging from mild generalized forms to epileptic encephalopathies. Despite the broad clinical spectrum, phenotypes were found to be largely concordant within families. Contrar
Externí odkaz:
https://doaj.org/article/645153edc090468e868dad5c72310188
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, Vol 11, Iss 23, p 6880 (2022)
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
Externí odkaz:
https://doaj.org/article/b5afa618f03a4334afa4b050110232a0
Autor:
Martin Krenn, Alexej Knaus, Dominik S. Westphal, Saskia B. Wortmann, Tilman Polster, Friedrich G. Woermann, Michael Karenfort, Ertan Mayatepek, Thomas Meitinger, Matias Wagner, Felix Distelmaier
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 968-973 (2019)
Abstract Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent
Externí odkaz:
https://doaj.org/article/a77991aeff9a40ac98117395bc72bdf3
Autor:
Dominik S. Westphal, Tobias Burkard, Alexander Moscu‐Gregor, Roman Gebauer, Gabriele Hessling, Cordula M. Wolf
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Genes encoding cardiac ion channels or regulating proteins have been associated with the inherited form of long QT syndrome (LQTS). Complex pathophysiology and missing functional studies, however, often bedevil variant interpretat
Externí odkaz:
https://doaj.org/article/bea25f40d7734b32b2036bf1a9bb5831
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Introduction: Microdeletions in the chromosomal region 2q34 and its neighboring regions lead to a phenotypic spectrum including autism, intellectual disability, and epilepsy. Up to now, only few affected patients have been reported. Therefore, the ge
Externí odkaz:
https://doaj.org/article/f1d03c22a1f642a7af1c898042d8c8f8
Autor:
Luana Niculescu, Matias Wagner, Dominik S. Westphal, Marcus Fischer, Walter Mihatsch, Anke Prothmann, Thomas Ruzicka, Andreas Wollenberg, Hans Wolff, Heinrich Schmidt, Kathrin A.
Publikováno v:
Acta Dermato-Venereologica, Vol 99, Iss 1, Pp 111-112 (2018)
Externí odkaz:
https://doaj.org/article/5f8f62abd5ec47a1a2ae440f2a59d9a1
Autor:
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow
Publikováno v:
American Journal of Medical Genetics Part A. 191:469-478
The non-POU domain-containing octamer-binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X-linked syndromic dis