Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Stephanie, Tennstedt"'
Autor:
Viktor Verovenko, Stephanie Tennstedt, Mariana Kleinecke, Thorsten Kessler, Heribert Schunkert, Jeanette Erdmann, Stephan Ensminger, Zouhair Aherrahrou
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract A positive family history is a major independent risk factor for atherosclerosis, and genetic variation is an important aspect of cardiovascular disease research. We identified a heterozygous missense variant p.L245P in the MMP10 gene in two
Externí odkaz:
https://doaj.org/article/4e316c6b171f422fb36a6eafe2c9d620
Autor:
Heribert Schunkert, Jeanette Erdmann, Stephanie Tennstedt, Jana Wobst, Thomas Meitinger, Tim M. Strom, Hendrik B. Sager, Tan An Dang, Michael Wierer, Ingrid Braenne, Thorsten Kessler
Publikováno v:
Circulation 144, 662-665 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03a3df84569fc05c15909ab125aaf56d
https://doi.org/10.1161/circulationaha.120.052975
https://doi.org/10.1161/circulationaha.120.052975
Autor:
Victor, Krajka, Franca, Vulinovic, Mariya, Genova, Kerstin, Tanzer, A S, Jijumon, Satish, Bodakuntla, Stephanie, Tennstedt, Helge, Mueller-Fielitz, Britta, Meier, Carsten, Janke, Christine, Klein, Aleksandar, Rakovic
Publikováno v:
Science advances. 8(10)
Mutations in the brain-specific β-tubulin 4A (TUBB4A) gene cause a broad spectrum of diseases, ranging from dystonia (DYT-TUBB4A) to hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Currently, the mechanisms of how
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a0d24261e83e57483031bb975289b08f
https://pubmed.ncbi.nlm.nih.gov/35275727
https://pubmed.ncbi.nlm.nih.gov/35275727
Autor:
Peter Nürnberg, Abdul Razzaq Mughal, Holger Thiele, Syed Zahid Jamal, Sheraz Jamal Khan, Shafaq Ramzan, Asad Aslam Korejo, Muhammad Tariq, Hafiza Noor Ul Ayan, Stephanie Tennstedt, Ilyas Ahmad, Shahid Mahmood Baig, Jeanette Erdmann, Aamir Ali, Matthias Munz
Publikováno v:
Genes
Volume 12
Issue 8
Genes, Vol 12, Iss 1282, p 1282 (2021)
Volume 12
Issue 8
Genes, Vol 12, Iss 1282, p 1282 (2021)
Cardiac conduction disease (CCD), which causes altered electrical impulse propagation in the heart, is a life-threatening condition with high morbidity and mortality. It exhibits genetic and clinical heterogeneity with diverse pathomechanisms, but in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a3c28b3476459faccf937653d2b7d19
Autor:
Shafaq, Ramzan, Stephanie, Tennstedt, Muhammad, Tariq, Sheraz, Khan, Hafiza, Noor Ul Ayan, Aamir, Ali, Matthias, Munz, Holger, Thiele, Asad Aslam, Korejo, Abdul Razzaq, Mughal, Syed Zahid, Jamal, Peter, Nürnberg, Shahid Mahmood, Baig, Jeanette, Erdmann, Ilyas, Ahmad
Publikováno v:
Genes
Cardiac conduction disease (CCD), which causes altered electrical impulse propagation in the heart, is a life-threatening condition with high morbidity and mortality. It exhibits genetic and clinical heterogeneity with diverse pathomechanisms, but in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a837f298442bb0c4e0a78fd0ef3c7777
https://pubmed.ncbi.nlm.nih.gov/34440456
https://pubmed.ncbi.nlm.nih.gov/34440456
Publikováno v:
Biochemical and Biophysical Research Communications. 471:380-385
Genome-wide association studies identified ADAMTS7 as a risk locus for coronary artery disease. In carotid arteries of rats, neointima formation after balloon-mediated injury goes along with enhanced Adamts7 expression. Vice versa, Adamts7-deficient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcbb7d356a6e5ac546a6356ba14148a8
https://doi.org/10.1016/j.bbrc.2016.02.025
https://doi.org/10.1016/j.bbrc.2016.02.025
Autor:
Birgit Assmann, Lara Lange, Stephanie Tennstedt, Sinem Tunc, Alexander Münchau, Christine Klein, Katja Lohmann
Publikováno v:
Movement Disorders. 32:1495-1497
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59098031c1d69573232ecbb51c10943b
https://doi.org/10.1002/mds.27137
https://doi.org/10.1002/mds.27137
Autor:
Julia A. Horsfield, Matthew A. Deardorff, Laura Daniela Michelis, Eva Rossier, Maren Mönnich, Robert G. Ramsay, María Concepción Gil-Rodríguez, Sara Halbach, Diana Braunholz, Dinah Clark, Emma Dickinson, Yuqian Yan, Abhinav Rampuria, Stephanie Tennstedt, Michael J. McKay, Stephanie Spranger, Sally Ann Lynch, Lionel Van Maldergem, Hermann-Josef Lüdecke, Gabriele Gillessen-Kaesbach, Ian D. Krantz, Huiling Xu, Melanie Albrecht, Jonathan J. Wilde, Hakon Hakonarson, Frank J. Kaiser, Weizhen Xu
Publikováno v:
The American Journal of Human Genetics. 90(6):1014-1027
The evolutionarily conserved cohesin complex was originally described for its role in regulating sister-chromatid cohesion during mitosis and meiosis. Cohesin and its regulatory proteins have been implicated in several human developmental disorders,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4a51f5008c59e670151d73aa74f3ea0
Autor:
Juergen Schrezenmeir, Christoph D. Garlichs, André Reis, Patrick Linsel-Nitschke, Jennifer Freyer, Thomas Illig, Christina Loley, Klaus Stark, Hendrik B. Sager, Angela Doering, Christian Gieger, Arif B. Ekici, Petra Belcredi, A. Reinhardt, A Grosshennig, Stephanie Tennstedt, N Klopp, Thomas Meitinger, N. E. El Mokhtari, Diana Rubin, Andreas Ziegler, Arne Schäfer, Zouhair Aherrahrou, Petra Bruse, Jens Baumert, Janja Nahrstaedt, Heribert Schunkert, Heinz Erich Wichmann, Annette Peters, Wolfgang Lieb, Anja Medack, Jeanette Erdmann, Michael Preuss, Arnika Kathleen Wagner, Christa Meisinger, Christina Willenborg, Inke R. König, Dorette Raaz-Schrauder, Stefan Schreiber, Christian Hengstenberg
Publikováno v:
European Heart Journal
European Heart Journal; Vol 32
European Heart Journal; Vol 32
Aims Recent genome-wide association (GWA) studies identified 10 chromosomal loci for coronary artery disease (CAD) or myocardial infarction (MI). However, these loci explain only a small proportion of the genetic variability of these pertinent diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14170c0a877359d5c09db7140da95bf9
Autor:
Jana Wobst, Tan A Dang, Thorsten Kessler, Simon von Ameln, Stephanie Tennstedt, Christian Hengstenberg, Jeanette Erdmann, Heribert Schunkert
Publikováno v:
Circulation. 132
Introduction: Myocardial infarction (MI) is the main complication of coronary artery disease (CAD). Recently, a locus tagging the GUCY1A3 gene has been shown to be genome-wide significantly associated with CAD. GUCY1A3 encodes the α1 subunit of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78ece40b5c8bc51ab5c5433f3662c47c
https://doi.org/10.1161/circ.132.suppl_3.15483
https://doi.org/10.1161/circ.132.suppl_3.15483