Results 1 to 10 of about 6,162 (114)

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 ...
Oliver J Müller, Lucie Carrier, Maksymilian Prondzynski   +2 more
exaly   +3 more sources

Variable cMyBP-C expression from cell to cell in a MYBPC3 c.927–2 A>G hiPSC-CM model recapitulates HCM patient phenotype [PDF]

Stem Cell Research & Therapy
Background Hypertrophic cardiomyopathy (HCM) is frequently associated with mutations in cardiac myosin binding protein C (cMyBP-C; MYBPC3) and cMyBP-C haploinsufficiency.
Karina Ivaskevica, Kathrin Kowalski, Birgit Piep, Jana Teske, Joachim D. Meissner, Maike Kosanke, Ante Radocaj, Judith Montag, Robert Zweigerdt, Theresia Kraft, Sarah A. Konze   +10 more
doaj   +2 more sources

Cardiovascular and Clinical Manifestations of Marfan Syndrome and Other Inherited Connective Tissue Disorders with Coexisting Genetic Variants [PDF]

Cells
Marfan syndrome (MS), Loeys–Dietz syndrome (LDS), Beals–Hecht syndrome (BHS), Ehlers–Danlos syndrome (EDS), and individuals with undifferentiated connective tissue disease (UCTD) exhibit phenotypic overlap, suggesting a likelihood of genotypic ...
Maria Elena Soto, Gilberto Vargas-Alarcón, Claudia Huesca-Gómez, Israel Pérez-Torres, José Antonio Arias-Godínez, Sergio Enrique Meza-Toledo, Regina de la Mora-Cervantes, Hugo Rodríguez-Zanella, Gabriela Meléndez-Ramírez, Linaloe Manzano-Pech, Giovanny Fuentevilla-Álvarez, Ricardo Gamboa   +11 more
doaj   +2 more sources

Generation of two induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYBPC3 mutations [PDF]

Stem Cell Research
Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiac disorder characterized by left ventricular hypertrophy and contractile dysfunction. Mutations in sarcomeric genes, particularly cardiac myosin-binding protein C (MYBPC3), are a leading ...
Catherine A. Wu, Matthew A. Wu, Shane R. Zhao, Junyi Sun, Amira G. Flores-Banuelos, Parker Walther, Matthew Wheeler, Nazish Sayed   +7 more
doaj   +2 more sources

Repair of Mybpc3 mRNA by 5′-Trans-Splicing in a Mouse Model of Hypertrophic Cardiomyopathy

Molecular Therapy - Nucleic Acids, 2013
RNA trans-splicing has been explored as a therapeutic option for a variety of genetic diseases, but not for cardiac genetic disease. Hypertrophic cardiomyopathy (HCM) is an autosomal-dominant disease, characterized by left ventricular hypertrophy (LVH ...
Oliver J Müller, Lucie Carrier, Thomas Eschenhagen   +2 more
exaly   +3 more sources

High Rate of Seroeligibility Among MYBPC3-Associated Hypertrophic Cardiomyopathy Patients for TN-201, an Adeno-Associated Virus Serotype 9 MYBPC3 Gene Therapy

Frontiers in Medicine
BackgroundThe genetic etiology of hypertrophic cardiomyopathy (HCM) and the critical role of sarcomeric variants in its pathogenesis are well recognized (1).
Milind Y. Desai, Daniele Massera, Heng Wang, Timothy C. Wong, Omar Wever-Pinzon, Neal K. Lakdawala, John R. Giudicessi, Theodore Abraham, Sherif Nagueh, Florian Rader, Ahmad Masri, Emre Turer, Pfumo Mushonga, Elizabeth Butala Flores, William Harrison, Natalia Sonicheva-Paterson, Gretchen Argast   +16 more
exaly   +3 more sources

Development of a Loop-Mediated Isothermal Amplification Assay Coupled With a Lateral Flow Dipstick Test for Detection of Myosin Binding Protein C3 A31P Mutation in Maine Coon Cats

Frontiers in Veterinary Science, 2022
BackgroundMyosin-binding protein C3 A31P (MYBPC3-A31P) missense mutation is a genetic deviation associated with the development of hypertrophic cardiomyopathy (HCM) in Maine Coon cats.
Pratch Sukumolanan, Kanokwan Demeekul, Soontaree Petchdee   +2 more
doaj   +1 more source

Echocardiography and MALDI-TOF Identification of Myosin-Binding Protein C3 A74T Gene Mutations Involved Healthy and Mutated Bengal Cats

Animals, 2022
This study aimed to identify the potential peptide candidates and expected proteins associated with MYBPC3-A74T gene mutations in Bengal cats and determine if peptidome profiles differ between healthy controls and cats with MYBPC3-A74T gene mutations ...
Kanokwan Demeekul, Pratch Sukumolanan, Chattida Panprom, Siriwan Thaisakun, Sittiruk Roytrakul, Soontaree Petchdee   +5 more
doaj   +1 more source

The combination of left ventricular non-compaction and hypertrophic cardiomyopathy in one family with a pathogenic variant in the MYBPC3 gene (rs397516037)

Российский кардиологический журнал, 2020
The article presents the results of clinical, instrumental and molecular genetic tests of three generations of a family with inherited cardiomyopathy caused by a new variant in the MYBPC3 gene.
R. P. Myasnikov, A. V. Kulikova, A. N. Meshkov, E. A. Mershina, A. V. Kiseleva, M. V. Klimushina, M. G. Divashuk, O. V. Kurilova, P. S. Pilyus, M. S. Kharlap, S. N. Koretsky, O. M. Larina, V. E. Sinitsyn, L. A. Gandaeva, V. I. Barsky, E. N. Basargina, S. A. Boytsov, O. M. Drapkina   +17 more
doaj   +1 more source

Genetic Study of Hypertrophic Cardiomyopathy in Iranian children: The Role of a De novo Variant [PDF]

پژوهان, 2023
Background and Objectives: Hypertrophic cardiomyopathy is a common cardiac disease diagnosed in young adults and rarely detectable in childhood. Hypertrophic cardiomyopathy exhibits considerable diversity in its clinical and genetic characteristics.
Arastoo Kaki, Mohammad Dalili, Nejat Mahdieh, Mehrdad Noruzinia   +3 more
doaj