Results 101 to 110 of about 9,138 (204)

Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy

Stem Cells International, 2016
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease, which affects the structure of heart muscle tissue. The clinical symptoms include arrhythmias, progressive heart failure, and even sudden cardiac death but the mutation carrier can also be ...
Marisa Ojala, Chandra Prajapati, Risto-Pekka Pölönen, Kristiina Rajala, Mari Pekkanen-Mattila, Jyrki Rasku, Kim Larsson, Katriina Aalto-Setälä   +7 more
doaj   +1 more source

Novel approaches for the discovery of pharmacogenetic biomarkers of chemotoxicity in patients with colorectal cancer

British Journal of Pharmacology, Volume 182, Issue 21, Page 5340-5354, November 2025.
Background and Purpose Chemotherapeutic treatment for colorectal cancer (colorectal cancer) allows for increased patient overall survival. However, current therapeutic regimens are often associated with the development of adverse drug reactions, which represent a morbidity, mortality and economic issue.
Ana Rita Simoes, Silvia Carlés González, María del Carmen Lopez‐Doldan, Goretti Duran, Ana Fernández‐Montes, Maria Perfecta Fernandez, Mercedes Salgado Fernandez, Jesus Garcia Mata, David Paez, Pau Riera, Elisabeth Guino, Luis Lopez‐Fernandez, Belen Garcia de Santiago, Elena López Aspiroz, Augusto Rojas, Antoni Castells, Sergi Castellvi‐Bel, Clara Ruiz Ponte, Veronika Vymetalkova, Angel Carracedo, Ceres Fernandez‐Rozadilla   +20 more
wiley   +1 more source

Functional analysis of a new splicing mutation in the MYBPC3 gene in hypertrophic cardiomyopathy

Бюллетень сибирской медицины
Aim. To study the pathogenic effect in the MYBPC3 splice-site variant in the patient with hypertrophic cardiomyopathy. Materials and methods. The study was conducted using a DNA sample obtained from a patient with hypertrophic cardiomyopathy, in whom a ...
R. R. Salakhov, M. V. Golubenko, M. Y. Skoblov, R. R. Savchenko, N. R. Valiakhmetov, E. N. Pavlyukova, M. S. Nazarenko   +6 more
doaj   +1 more source

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 ...
Giulia Mearini, Doreen Stimpel, Elisabeth Krämer, Birgit Geertz, Ingke Braren, Christina Gedicke-Hornung, Guillaume Précigout, Oliver J Müller, Hugo A Katus, Thomas Eschenhagen, Thomas Voit, Luis Garcia, Stéphanie Lorain, Lucie Carrier   +13 more
doaj   +1 more source

Mesencephalic Astrocyte‐Derived Neurotrophic Factor Binds BAX to Preserve Mitochondrial Homeostasis and Energy Metabolism for Relieving Myocardial Hypertrophy

Advanced Science, Volume 12, Issue 40, October 27, 2025.
MANF in cardiomyocytes interacts with BAX to impede BAX mitochondrial translocation and cytochrome c release, further stabilizing mitochondrial structure and energy supply to relieve myocardial apoptosis and hypertrophy, which indicates MANF as a novel cardioprotective factor to have a promising clinical application for myocardial hypertrophy ...
Dong Wang, Xinru Zhang, Baolong Wang, Haipeng Li, Dongshuo Xu, Yun Yang, Jialu Zhang, Wenbing Wang, Ren Zhang, Xinyu Wang, Yunfeng Cai, Shiyu Cao, Chao Hou, Changhui Wang   +13 more
wiley   +1 more source

Patient and Disease-Specific Induced Pluripotent Stem Cells for Discovery of Personalized Cardiovascular Drugs and Therapeutics. [PDF]

, 2020
Human induced pluripotent stem cells (iPSCs) have emerged as an effective platform for regenerative therapy, disease modeling, and drug discovery.
Chandy, Mark, Paik, David T, Wu, Joseph C   +2 more
core  

Generation of Nonintegrative‐Induced Pluripotent Stem Cells in Hutchinson‐Gilford Progeria Syndrome: Enhancing Aging Research

AGING MEDICINE, Volume 8, Issue 5, Page 493-498, October 2025.
We generated genetically stable iPSCs from HGPS patients using a nonintegrative Sendai virus method. This approach preserves cellular integrity, enhances disease modeling, and enables accurate study of Progerin‐induced cardiovascular dysfunction. Overall, it provides a reliable platform for understanding HGPS and aging‐related disease pathology and ...
Juned Kadiwala, Rameen Shakur
wiley   +1 more source

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death

BMC Medical Genetics, 2012
Background Hypertrophic Cardiomyopathy (HCM) is a genetically heterogeneous disease. One specific mutation in the MYBPC3 gene is highly prevalent in center east of France giving an opportunity to define the clinical profile of this specific mutation ...
Teirlinck Carolien H, Senni Faïza, Malti Rajae El, Majoor-Krakauer Danielle, Fellmann Florence, Millat Gilles, André-Fouët Xavier, Pernot François, Stumpf Michaël, Boutarin Jean, Bouvagnet Patrice   +10 more
doaj   +1 more source

Predictors of outcome in genetic diagnostics for hypertrophic cardiomyopathy - a retrospective study [PDF]

, 2016
Hypertrophic cardiomyopathy (HCM) is the most common hereditary heart disease, characterized by an unexplained hypertrophy of the left ventricle, which increases the risk of heart failure, arrhythmias and sudden death.
Dewerand, Madeleine
core  

Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3

Clinical Case Reports, 2017
Key Clinical MessageWe think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease.
Esther Aurensanz Clemente, Ariadna Ayerza Casas, Cecilia García Lasheras, Feliciano Ramos Fuentes, Ines Bueno Martínez, Juana Pelegrín Díaz, Pablo Ruiz Frontera, Lorenzo Montserrat Iglesias   +7 more
openaire   +2 more sources