Results 41 to 50 of about 9,138 (204)

Evaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes

Molecular Therapy: Nucleic Acids, 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 mutation ...
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   +13 more
doaj   +1 more source

Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure [PDF]

, 2019
Heart failure is a leading cause of mortality, yet our understanding of the genetic interactions underlying this disease remains incomplete. Here, we harvest 1352 healthy and failing human hearts directly from transplant center operating rooms, and ...
Ashley, Euan A., Bernstein, Daniel, Brandimarto, Jeff, Cappola, Thomas, Chang, Alex C., Chin, Elizabeth T., Connolly, Andrew, Cordero, Pablo, Depaoli-Roach, Anna A., Dewey, Frederick, Erbilgin, Ayca, Glazer, Nicole, Gloudemans, Michael J., Hakonarson, Hakon, Hannenhalli, Sridhar, Huang, Yong, Li, Hongzhe, Li, Mingyao, Lusis, Aldons J., Malloy, Christine, Margulies, Kenneth B., Montgomery, Stephen B., Moravec, Christine S., Morley, Michael, Parikh, Victoria N., Pavlovic, Aleksandra, Ritter, Scott, Shang, Ching, Skreen, Jamie, Smith, Kevin S., Tang, W. H. Wilson, Waggott, Daryl, Wheeler, Matthew T., Zaleta, Kathia, Zhao, Mingming   +34 more
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An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve [PDF]

Translational Pediatrics, 2020
Bicuspid aortic valve (BAV) is a common congenital heart defect (0.5-2.0% in the adult), potentially an onset factor of aortic stenosis (AS). Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV, but the genetic basis underlying this cardiac malformation remains poorly understood.Whole exome sequencing ...
Zhao, Xiaopei, Hou, Cuilan, Xiao, Tingting, Xie, Lijian, Li, Yun, Jia, Jia, Zheng, Junming, Zhang, Yongwei, Xu, Meng   +8 more
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Activation of Autophagy Ameliorates Cardiomyopathy in Mybpc3 -Targeted Knockin Mice [PDF]

Circulation: Heart Failure, 2017
Background: Alterations in autophagy have been reported in hypertrophic cardiomyopathy (HCM) caused by Danon disease, Vici syndrome, or LEOPARD syndrome, but not in HCM caused by mutations in genes encoding sarcomeric proteins, which account for most of HCM cases.
Singh, SR, Zech, ATL, Geertz, B, Reischmann-Düsener, S, Osinska, H, Prondzynski, M, Krämer, E, Meng, Q, Redwood, C, van der Velden, J, Robbins, J, Schlossarek, S, Carrier, L   +12 more
openaire   +3 more sources

The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes

Diagnostics, 2022
Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium most commonly caused by mutations in sarcomeric genes. We aimed to perform a nationwide large-scale genetic analysis of a previously unreported, representative HCM cohort in Hungary.
Róbert Sepp, Lidia Hategan, Beáta Csányi, János Borbás, Annamária Tringer, Eszter Dalma Pálinkás, Viktória Nagy, Hedvig Takács, Dóra Latinovics, Noémi Nyolczas, Attila Pálinkás, Réka Faludi, Miklós Rábai, Gábor Tamás Szabó, Dániel Czuriga, László Balogh, Róbert Halmosi, Attila Borbély, Tamás Habon, Zoltán Hegedűs, István Nagy   +20 more
doaj   +1 more source

Next-generation sequencing-based genome diagnostics across clinical genetics centers: Implementation choices and their effects [PDF]

, 2015
Implementation of next-generation DNA sequencing (NGS) technology into routine diagnostic genome care requires strategic choices. Instead of theoretical discussions on the consequences of such choices, we compared NGS-based diagnostic practices in eight ...
Butler, D. (Derek), Claes, G. (Godelieve), Costessi, A. (Adalberto), Cuppen, E. (Edwin), De Koning, B. (Bart), Dorlijn, W. (Wim), Dunnen, J.T. (Johan) den, Elferink, M.G. (Martin), Halley, D.J.J. (Dicky), Hennekam, R.C.M. (Raoul), IJcken, W.F.J. (Wilfred) van, Ijntema, H. (Helger), Johansson, L.F. (Lennart F.), Jongbloed, J.D.H. (Jan), Kamps, R. (Rick), Kockx, C. (Christel), Kraaijeveld, K. (Ken), Kranendonk, E. (Elcke), Kriek, N. (Nadia), Lekanne Dit Deprez, R.H., Ligt, J. (Joep) de, Lunstroo, H. (Hans), Mannens, M.M.A.M. (Marcel), Mook, O. (Olaf), Nelen, M.R. (Marcel), Nijman, I.J. (Isaac ), Ploem, C. (Corrette), Rijnen, M. (Marco), Santen, G.W.E. (Gijs), Saris, J.J. (Jasper), Sinke, R.J. (Richard J), Sistermans, E. (Erik), Slegtenhorst, M.A. (Marjon) van, Sleutels, F. (Frank), Stoep, N. (Nienke) van der, Tienhoven, M. (Marianne) van, Van Den Hout, M.C.G.N. (Mirjam C.G.N.), Van Eyndhoven, W. (Winfried), Van Hove, S. (Steven), Veltman, J.A. (Joris), Vermaat, M. (Martijn), Vogel, M.J. (Maartje), Vrijenhoek, T. (T.), Waisfisz, Q. (Quinten), Weiss, J.M. (Janneke), Wijngaard, A. (Arthur) van den, Workum, W. (W) van, Zwaag, B. (Bert) van der   +47 more
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MYBPC3 Gene Therapy for Neonatal Sarcomeric Cardiomyopathies [PDF]

Biophysical Journal, 2015
Hypertrophic cardiomyopathy (HCM) is mainly characterized by left ventricular hypertrophy (LVH), diastolic dysfunction and increased interstitial fibrosis. HCM has an estimated prevalence in a young adult population of 1:500 and is the leading cause of sudden cardiac death in young athletes. HCM is transmitted in an autosomal-dominant fashion and often
openaire   +1 more source

Myocardial dysfunction caused by MyBPC3 P459fs mutation in hypertrophic cardiomyopathy: evidence from multi-omics approaches and super-resolution imaging

Frontiers in Cardiovascular Medicine
IntroductionMutations in the sarcomere protein, particularly in cardiac myosin binding protein C gene (MyBPC3), were the most frequent genetic cause of hypertrophic cardiomyopathy (HCM).
Yupeng Wu, Yupeng Wu, Yuzhu Zhang, Yuzhu Zhang, Qirui Zheng, Qirui Zheng, Qiyuan Wang, Qiyuan Wang, Xingyu Fang, Xingyu Fang, Zaihan Zhu, Zaihan Zhu, Jing Lu, Dandan Sun, Dandan Sun   +14 more
doaj   +1 more source

Targeted Mybpc3 Knock-Out Mice with Cardiac Hypertrophy Exhibit Structural Mitral Valve Abnormalities

Journal of Cardiovascular Development and Disease, 2015
MYBPC3 mutations cause hypertrophic cardiomyopathy, which is frequently associated with mitral valve (MV) pathology. We reasoned that increased MV size is caused by localized growth factors with paracrine effects. We used high-resolution echocardiography
Daniel P. Judge, Hany Neamatalla, Russell A. Norris, Robert A. Levine, Jonathan T. Butcher, Nicolas Vignier, Kevin H. Kang, Quangtung Nguyen, Patrick Bruneval, Marie-Cécile Perier, Emmanuel Messas, Xavier Jeunemaitre, Annemarieke de Vlaming, Roger Markwald, Lucie Carrier, Albert A. Hagège   +15 more
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Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source