Výsledky vyhledávání - "Britta Keyser"

Akademický článek

Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy

Autor: Judith Montag, Kathrin Kowalski, Mirza Makul, Pia Ernstberger, Ante Radocaj, Julia Beck, Edgar Becker, Snigdha Tripathi, Britta Keyser, Christian Mühlfeld, Kirsten Wissel, Andreas Pich, Jolanda van der Velden, Cristobal G. dos Remedios, Andreas Perrot, Antonio Francino, Francesco Navarro-López, Bernhard Brenner, Theresia Kraft

Publikováno v: Frontiers in Physiology, Vol 9 (2018)

Hypertrophic Cardiomyopathy (HCM) has been related to many different mutations in more than 20 different, mostly sarcomeric proteins. While development of the HCM-phenotype is thought to be triggered by the different mutations, a common mechanism rem

Externí odkaz: https://doaj.org/article/f13e55711d92489faeb3bc79c751aa43

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Akademický článek

Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.

Autor: Jasmin Wellbrock, Sara Sheikhzadeh, Leticia Oliveira-Ferrer, Hauke Stamm, Mathias Hillebrand, Britta Keyser, Marianne Klokow, Gabi Vohwinkel, Veronika Bonk, Benjamin Otto, Thomas Streichert, Stefan Balabanov, Christian Hagel, Meike Rybczynski, Frank Bentzien, Carsten Bokemeyer, Yskert von Kodolitsch, Walter Fiedler

Publikováno v: PLoS ONE, Vol 9, Iss 8, p e104742 (2014)

The Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder caused by mutations in the transforming growth factor β (TGF-β) receptors TGFBR1 or TGFBR2. Most patients with LDS develop severe aortic aneurysms resulting in early need of

Externí odkaz: https://doaj.org/article/3088706ae18c4df79590a1535a20ef75

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Akademický článek

Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.

Autor: Ali Aydin, Baran A Adsay, Sara Sheikhzadeh, Britta Keyser, Meike Rybczynski, Claudia Sondermann, Christian Detter, Daniel Steven, Peter N Robinson, Jürgen Berger, Jörg Schmidtke, Stefan Blankenberg, Stephan Willems, Yskert von Kodolitsch, Boris A Hoffmann

Publikováno v: PLoS ONE, Vol 8, Iss 12, p e81281 (2013)

BackgroundMarfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation.Methods and resultsWe performed an observational cohort study of 80 consecutive adults (30 men, 50 women

Externí odkaz: https://doaj.org/article/3d79b92abb9949589a02f506c1082145

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Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy

Autor: Anna Lena Weber, Anne Kathrin Mayer, Bernhard Brenner, Carolyn Y. Ho, Theresia Kraft, Andreas Perrot, Judith Montag, Antonio Francino, Francesco Navarro-Lopez, Pia Ernstberger, Julia Rose, Britta Keyser, Jolanda van der Velden, Cristobal G. dos Remedios, Edgar Becker, Mandy Syring

Publikováno v: Journal of Muscle Research and Cell Motility
Journal of Muscle Research and Cell Motility, 1-12. Springer Netherlands
STARTPAGE=1;ENDPAGE=12;ISSN=0142-4319;TITLE=Journal of Muscle Research and Cell Motility
Montag, J, Syring, M, Rose, J, Weber, A L, Ernstberger, P, Mayer, A K, Becker, E, Keyser, B, Dos Remedios, C, Perrot, A, van der Velden, J, Francino, A, Navarro-Lopez, F, Ho, C Y, Brenner, B & Kraft, T 2017, ' Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy ', Journal of Muscle Research and Cell Motility, pp. 1-12 . https://doi.org/10.1007/s10974-017-9486-4

HCM, the most common inherited cardiac disease, is mainly caused by mutations in sarcomeric genes. More than a third of the patients are heterozygous for mutations in the MYH7 gene encoding for the β-myosin heavy chain. In HCM-patients, expression o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17c92fd6165dbe39bab29a0be96f4ddd
https://doi.org/10.1007/s10974-017-9486-4

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P1617Contractile imbalance as trigger for HCM pathogenesis: evidence from mutations in different sarcomeric proteins

Autor: Judith Montag, Theresia Kraft, Britta Keyser, David Aldag-Niebling, J. van der Velden, C.G. dos Remedios, Valentin Burkart, Julia Beck, D Hilfigker-Kleiner, Birgit Piep

Publikováno v: European Heart Journal. 40

Hypertrophic cardiomyopathy (HCM) is mostly caused by mutations in sarcomeric proteins. About 90% of mutation-positive patients have mutations in one of four proteins: the β-myosin heavy chain (β-MyHC, MYH7), cardiac myosin binding protein C (cMyBP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aefa129b2facbd84cb936829412cb847
https://doi.org/10.1093/eurheartj/ehz748.0376

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Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse☆

Autor: Stefan Blankenberg, Meike Rybczynski, Julie De Backer, Dietmar Koschyk, Moritz Rippe, Helke Schüler, Alexander M. Bernhardt, Britta Keyser, Jürgen Berger, Thomas S. Mir, Kerstin Kutsche, Mathias Hillebrand, Yskert von Kodolitsch, Laura Muiño Mosquera

Publikováno v: International Journal of Cardiology. Heart & Vasculature
IJC HEART & VASCULATURE

Background: Mitral valve prolapse syndrome (MVPS) and MASS phenotype (MASS) are Marfan-like syndromes that exhibit aortic dilatation and mitral valve prolapse. Unlike in Marfan syndrome(MFS), the presence of ectopia lentis and aortic aneurysm preclud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36b84c08ae90f21ff40fbfdcc8a3290d
http://europepmc.org/articles/PMC5441352

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Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy

Autor: Edgar Becker, Judith Montag, Ante Radocaj, Mirza Makul, Bernhard Brenner, Pia Ernstberger, Julia Beck, Andreas Perrot, Cristobal G. dos Remedios, Kathrin Kowalski, Snigdha Tripathi, Francesco Navarro-Lopez, Jolanda van der Velden, Andreas Pich, Antonio Francino, Theresia Kraft, Christian Mühlfeld, Kirsten Wissel, Britta Keyser

Publikováno v: Frontiers in Physiology, 9(APR):359. Frontiers Research Topics
Frontiers in Physiology, Vol 9 (2018)
Frontiers in Physiology
Montag, J, Kowalski, K, Makul, M, Ernstberger, P, Radocaj, A, Beck, J, Becker, E, Tripathi, S, Keyser, B, Mühlfeld, C, Wissel, K, Pich, A, van der Velden, J, dos Remedios, C G, Perrot, A, Francino, A, Navarro-López, F, Brenner, B & Kraft, T 2018, ' Burst-like transcription of mutant and wildtype MYH7-alleles as possible origin of cell-to-cell contractile imbalance in Hypertrophic Cardiomyopathy ', Frontiers in Physiology, vol. 9, no. APR, 359 . https://doi.org/10.3389/fphys.2018.00359

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50ef04c6a3e89e843f466e0a8acf587
https://doi.org/10.3389/fphys.2018.00359

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Blood-based microRNA signatures differentiate various forms of cardiac hypertrophy

Autor: Peter J. Kennel, Manfred Stuhrmann, Anselm A. Derda, Johann Bauersachs, Britta Keyser, Sabrina Thum, Thomas Thum, Udo Bavendiek, P. Christian Schulze, Julian D. Widder, Johan M. Lorenzen, Raymond C. Givens, Joerg Heineke

Publikováno v: International Journal of Cardiology. 196:115-122

Hypertrophic cardiomyopathy (HCM) is caused by mutations in different structural genes and induces pathological hypertrophy with sudden cardiac death as a possible consequence. HCM can be separated into hypertrophic non-obstructive and obstructive ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51f26e3ec3cb3d793b4ce5255a81f94
https://doi.org/10.1016/j.ijcard.2015.05.185

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Total Serum Transforming Growth Factor-β1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes

Autor: Nathalie Millot, Sabine Gerth, Meike Rybczynski, Sara Sheikhzadeh, Britta Keyser, Stefan Blankenberg, Tilo Kölbel, Mathias Hillebrand, Britta U. Goldmann, Jürgen Berger, Kerstin Kutsche, Tanja Zeller, Thomas S. Mir, Peter N. Robinson, Yskert von Kodolitsch

Publikováno v: Clinical Cardiology. 37:672-679

Background Total serum transforming growth factor-beta 1 (tsTGF-β1) is increased in patients with Marfan syndrome (MFS), but it has not been assessed in thoracic aortic aneurysm and dissection (TAAD), Loeys-Dietz syndrome (LDS), and bicuspid aortic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::238078da8f87ccf300668b396400f3a1
https://doi.org/10.1002/clc.22320

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