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of 5
pro vyhledávání: '"Nico Kresin"'
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 14, Iss 8, Pp n/a-n/a (2022)
Externí odkaz:
https://doaj.org/article/20088ae3e8874325a43b88d720c8d7fd
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
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
Publikováno v:
Frontiers in Physiology, Vol 8 (2017)
Background: Hypertrophic cardiomyopathy (HCM) patients often present with diastolic dysfunction and a normal to supranormal systolic function. To counteract this hypercontractility, guideline therapies advocate treatment with beta-adrenoceptor and Ca
Externí odkaz:
https://doaj.org/article/f9caa2dc703c45c99447caab8912677d
Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Autor:
Nico Kresin, Josefine Busch, Elisabeth Krämer, Felix W. Friedrich, Marc D Lemoine, Thomas Eschenhagen, Giulia Mearini, Jussi T. Koivumäki, Torsten Christ, Saskia Schlossarek, Daniele Catalucci, Sandra D. Laufer, András Horváth, Christian Meyer, Alexander E Volk, Tobias Krause, Julia Münch, Michael Spohn, Antonia T.L. Zech, Monica Patten, Lucie Carrier, Vittoria Di Mauro, Maksymilian Prondzynski, Charles Redwood, Arne Hansen
Publikováno v:
EMBO Mol Med
EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 11, Iss 12, Pp n/a-n/a (2019)
EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 11, Iss 12, Pp n/a-n/a (2019)
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 left ventric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70834d60611703d1e820e7a13ae94377
https://pubmed.ncbi.nlm.nih.gov/35938313
https://pubmed.ncbi.nlm.nih.gov/35938313