Zobrazeno 1 - 10 of 99 pro vyhledávání: '"Charles, Redwood"'
1
Akademický článek
Low expression of the K280N TNNT2 mutation is sufficient to increase basal myofilament activation in human hypertrophy cardiomyopathy
Autor: Vasco Sequeira, Lili Wang, Paul J.M. Wijnker, Kyungsoo Kim, Jose R. Pinto, Cris dos Remedios, Charles Redwood, Bjorn C. Knollmann, Jolanda van der Velden
Publikováno v: Journal of Molecular and Cellular Cardiology Plus, Vol 1, Iss , Pp 100007- (2022)
Background: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disorder with patients typically showing heterozygous inheritance of a pathogenic variant in a gene encoding a contractile protein. Here, we study the contractile effects
Externí odkaz: https://doaj.org/article/b360c922580f4c239424f598c7d8a20a
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3
Akademický článek
Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Autor: Maksymilian Prondzynski, Marc D Lemoine, Antonia TL Zech, András Horváth, Vittoria Di Mauro, Jussi T Koivumäki, Nico Kresin, Josefine Busch, Tobias Krause, Elisabeth Krämer, Saskia Schlossarek, Michael Spohn, Felix W Friedrich, Julia Münch, Sandra D Laufer, Charles Redwood, Alexander E Volk, Arne Hansen, Giulia Mearini, Daniele Catalucci, Christian Meyer, Torsten Christ, Monica Patten, Thomas Eschenhagen, Lucie Carrier
Publikováno v: EMBO Molecular Medicine, Vol 11, Iss 12, Pp 1-18 (2019)
Abstract Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease accompanied by structural and contractile alterations. We identified a rare c.740C>T (p.T247M) mutation in ACTN2, encoding α‐actinin 2 in a HCM patient, who presented with lef
Externí odkaz: https://doaj.org/article/3dc134090e7a4e27beee5c5b257be092
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4
Akademický článek
Evaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes
Autor: Maksymilian Prondzynski, Elisabeth Krämer, Sandra D. Laufer, Aya Shibamiya, Ole Pless, Frederik Flenner, Oliver J. Müller, Julia Münch, Charles Redwood, Arne Hansen, Monica Patten, Thomas Eschenhagen, Giulia Mearini, Lucie Carrier
Publikováno v: Molecular Therapy: Nucleic Acids, Vol 7, Iss C, Pp 475-486 (2017)
Gene therapy is a promising option for severe forms of genetic diseases. We previously provided evidence for the feasibility of trans-splicing, exon skipping, and gene replacement in a mouse model of hypertrophic cardiomyopathy (HCM) carrying a mutat
Externí odkaz: https://doaj.org/article/285f249a121446408d9780a45f0af2f9
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5
Akademický článek
Analysis of Contractile Function of Permeabilized Human Hypertrophic Cardiomyopathy Multicellular Heart Tissue
Autor: Nico Kresin, Sabrina Stücker, Elisabeth Krämer, Frederik Flenner, Giulia Mearini, Julia Münch, Monica Patten, Charles Redwood, Lucie Carrier, Felix W. Friedrich
Publikováno v: Frontiers in Physiology, Vol 10 (2019)
Background: Many forms of hypertrophic cardiomyopathy (HCM) show an increased myofilament Ca2+ sensitivity. This observation has been mainly made in HCM mouse models, myofilament systems, and cardiomyocytes. Studies of multicellular tissues from pati
Externí odkaz: https://doaj.org/article/9afd9321f0244aeeaedb90d00b1f6ea0
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6
Akademický článek
Fluorescent PSC-Derived Cardiomyocyte Reporter Lines: Generation Approaches and Their Applications in Cardiovascular Medicine
Autor: Naeramit Sontayananon, Charles Redwood, Benjamin Davies, Katja Gehmlich
Publikováno v: Biology, Vol 9, Iss 11, p 402 (2020)
Recent advances have made pluripotent stem cell (PSC)-derived cardiomyocytes an attractive option to model both normal and diseased cardiac function at the single-cell level. However, in vitro differentiation yields heterogeneous populations of cardi
Externí odkaz: https://doaj.org/article/e3fd0e7cabdb43b7812e02e53fa58fcd
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8
Dilated cardiomyopathy mutations in thin-filament regulatory proteins reduce contractility, suppress systolic Ca2+, and activate NFAT and Akt signaling
Autor: Suketu Patel, Svetlana Reilly, Yin-Hua Zhang, Paul Robinson, Barbara Casadei, Hugh Watkins, Marta Malinowska, Alexander J Sparrow, Charles Redwood
Publikováno v: American Journal of Physiology-Heart and Circulatory Physiology. 319:H306-H319
Dilated cardiomyopathy (DCM) is clinically characterized by dilated ventricular cavities and reduced ejection fraction, leading to heart failure and increased thromboembolic risk. Mutations in thin-filament regulatory proteins can cause DCM and have
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::caedfe5ac2f3d3635139dee4241620d7
https://doi.org/10.1152/ajpheart.00272.2020
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9
The molecular mechanism of muscle dysfunction associated with the R133W mutation in Tpm2.2
Autor: Stanislava V. Avrova, Vladimir V. Sirenko, Olga E. Karpicheva, Yurii S. Borovikov, Charles Redwood, Armen O. Simonyan
Publikováno v: Biochemical and Biophysical Research Communications. 523:258-262
Ghost muscle fibres reconstituted with myosin heads labeled with the fluorescent probe 1,5-IAEDANS were used for analysis of muscle fibre dysfunction associated with the R133W mutation in β-tropomyosin (Tpm2.2). By using polarized microscopy, we sho
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a0b285e67cd493deae360e9c8e56b82
https://doi.org/10.1016/j.bbrc.2019.12.061
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