Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Kirsten Bartels"'
Genetic Testing for Familial Hypercholesterolemia: The Current State of Its Implementation in Canada
Autor:
Adam I. Kramer, MD, MSc, Susan Christian, MSc, PhD, Kirsten Bartels, MSc, Nicol Vaizman, BS, Robert A. Hegele, MD, Liam R. Brunham, MD, PhD
Publikováno v:
CJC Open, Vol 6, Iss 11, Pp 1395-1402 (2024)
Background: Familial hypercholesterolemia (FH) is a common genetic disorder, yet it remains largely underdiagnosed in Canada. Multiple national and international guidelines recommend the use of clinical genetic testing for FH. However, the level of i
Externí odkaz:
https://doaj.org/article/f49f497e8c9a4d53994a602c3b7ba285
Autor:
Yi Li, Niklas Dörmann, Björn Brinschwitz, Melanie Kny, Elisa Martin, Kirsten Bartels, Ning Li, Priyanka Voori Giri, Stefan Schwanz, Michael Boschmann, Susanne Hille, Britta Fielitz, Tobias Wollersheim, Julius Grunow, Stephan B. Felix, Steffen Weber‐Carstens, Friedrich C. Luft, Oliver J. Müller, Jens Fielitz
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 14, Iss 4, Pp 1721-1736 (2023)
Abstract Background Sepsis‐induced intensive care unit‐acquired weakness (ICUAW) features profound muscle atrophy and attenuated muscle regeneration related to malfunctioning satellite cells. Transforming growth factor beta (TGF‐β) is involved
Externí odkaz:
https://doaj.org/article/4f3b327ad2d446c7ae036a28a5240cf3
Autor:
Niklas Dörmann, Elke Hammer, Karlotta Struckmann, Julia Rüdebusch, Kirsten Bartels, Kristin Wenzel, Julia Schulz, Stefan Gross, Stefan Schwanz, Elisa Martin, Britta Fielitz, Cristina Pablo Tortola, Alexander Hahn, Alexander Benkner, Uwe Völker, Stephan B. Felix, Jens Fielitz
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2024)
BackgroundA metabolic shift from fatty acid (FAO) to glucose oxidation (GO) occurs during cardiac hypertrophy (LVH) and heart failure with reduced ejection fraction (HFrEF), which is mediated by PGC-1α and PPARα. While the transcription factor EB (
Externí odkaz:
https://doaj.org/article/6a38ecc2510a49efae22564aae7e2683
Publikováno v:
Journal of Genetic Counseling. 31:815-828
Inherited arrhythmia conditions (IAC) can lead to sudden cardiac death at any age, and relatives of an affected person have up to a 50% chance of inheriting the condition and are at risk for developing features. Cascade testing is a stepwise approach
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b87b19cd1758cd830394ba194fa54a4
https://doi.org/10.1002/jgc4.1550
https://doi.org/10.1002/jgc4.1550
Autor:
Fang Xu, Shubhayan Sanatani, Brianna Davies, Laura Arbour, Martin J. Gardner, Jacqueline Joza, Julie Hathaway, Christian Steinberg, Rafik Tadros, Anne Fournier, Christopher S. Simpson, Jason D. Roberts, Paul Angaran, Robert Hamilton, Anna Lehman, Kirsten Bartels, Zachary Laksman, Mario Talajic, Andrew D. Krahn, Jeff S. Healey, Colette M. Seifer, Martin S. Green
Publikováno v:
Circulation. Genomic and precision medicine. 14(3)
Background: Following an unexplained cardiac arrest, clinical genetic testing is increasingly becoming standard of care. Periodic review of variant classification is required, as reinterpretation can change the diagnosis, prognosis, and management of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9a5262206fd546b8a46c922c24cd35
https://pubmed.ncbi.nlm.nih.gov/33960826
https://pubmed.ncbi.nlm.nih.gov/33960826
Autor:
Laura Zahavich, Fiona Curtis, Laura Arbour, Julien Marcadier, Patrician Birch, Kirsten Bartels, Lindsay Burnell, Jeremy Yetman, Alicia Welsh, Cathleen Huculak, Susan Christian, Joseph Atallah
Publikováno v:
The Canadian journal of cardiology. 37(10)
Background Assessing the issues surrounding predictive genetic testing for children at risk of an inherited arrhythmia or cardiomyopathy is complex. The objective of this study was to design and evaluate 4 cardiac decision aids. The decision aids wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef372f601ec04389fb5b0450d3080e9
https://pubmed.ncbi.nlm.nih.gov/34147624
https://pubmed.ncbi.nlm.nih.gov/34147624
Publikováno v:
Heart Rhythm. 18:S101
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c796edc359b9ee90ea38c35a73638297
https://doi.org/10.1016/j.hrthm.2021.06.271
https://doi.org/10.1016/j.hrthm.2021.06.271
Autor:
Mario Talajic, Andrew D. Krahn, Jacqueline Joza, Brianna Davies, Zachary Laksman, Laura Arbour, Rafik Tadros, Christian Steinberg, Kirsten Bartels, Jason D. Roberts, Shubhayan Sanatani, Christopher S. Simpson, Jeff S. Healey, Anne Fournier, M. Gardner, C. Seifer, Paul Angaran, Martin S. Green
Publikováno v:
Canadian Journal of Cardiology. 36:S55-S56
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9d651314dcf90a19916963250128e710
https://doi.org/10.1016/j.cjca.2020.07.116
https://doi.org/10.1016/j.cjca.2020.07.116
Autor:
Elijah R. Behr, Kirsten Bartels, David J. Tester, Greg Mellor, Shubhayan Sanatani, Seshadri Balaji, Christopher S. Simpson, Pankaj Panwar, Christian Steinberg, Ngai Shing Mok, Richard Leather, Julie Hathaway, Andrew D. Krahn, Craig T. January, Christopher C. Erickson, Shelley Falik, Raul Weiss, Paul L. Eugenio, George McDaniel, Arthur A.M. Wilde, Nicole J. Boczek, Jason D. Roberts, Robert M. Hamilton, Elizabeth S. Kaufman, Zachary Laksman, Andrea K Y Lee, Susan Christian, Andrew E. Radbill, Michael J. Ackerman, Filip Van Petegem
Publikováno v:
EP Europace, 21(11), 1725-1732. Oxford University Press
Aims Pathogenic gain-of-function variants in CACAN1C cause type-8 long QT syndrome (LQT8). We sought to describe the electrocardiographic features in LQT8 and utilize molecular modelling to gain mechanistic insights into its genetic culprits. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02829a299b7e81fbda452f2da572b7cc
https://pubmed.ncbi.nlm.nih.gov/31408100
https://pubmed.ncbi.nlm.nih.gov/31408100
Autor:
Christopher Semsarian, Andrew D. Krahn, Jodie Ingles, Eugene K Wong, Kirsten Bartels, Laura Yeates, Alice Virani, Charlotte Burns, Julie Hathaway
Publikováno v:
Eur J Hum Genet
Interpretation of sequence variants is an ongoing challenge and new approaches aim to increase stringency. The reclassification of variants has the potential to alter medical management and elicit psychosocial consequences for patients. The perspecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d0acfffdb068a25201afea82fbf2b5a
https://pubmed.ncbi.nlm.nih.gov/30903112
https://pubmed.ncbi.nlm.nih.gov/30903112