Results 31 to 40 of about 7,387 (194)

Integrated Multi-Omics Analysis of <i>Polygonatum odoratum</i> Polysaccharide in D-Galactose-Treated Mice Reveals Changes in Oxidative Stress Markers and Gut Microbiota. [PDF]

Food Sci Nutr
This study evaluated the effects of Polygonatum odoratum polysaccharide (POP) in D‐galactose‐treated mice using hippocampal histology, oxidative stress measurements, and integrated multi‐omics analyses. Results showed improved hippocampal histology and oxidative stress markers, accompanied by changes in gut bacterial composition, serum metabolites, and
Li W, Huang Y, Zhang W, Li S, Li L.
europepmc   +2 more sources

Genotype-Dependent Effects of Mechanical Stretch and GATA4-Targeted Compound 3i-1262 in Cardiomyopathy Patient-Derived hiPSC-Cardiomyocytes. [PDF]

Basic Clin Pharmacol Toxicol
ABSTRACT Genetic hypertrophic and dilated cardiomyopathies (HCM and DCM, respectively) are characterised by structural and functional abnormalities that can lead to heart failure. However, current therapies mainly reduce symptoms. Patient‐derived human induced pluripotent stem cell (hiPSC)–derived cardiomyocytes provide a valuable platform to study ...
Pohjavaara S, Kinnunen SM, Ruskoaho H, Aalto-Setälä K, Välimäki MJ, Talman V.   +5 more
europepmc   +2 more sources

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

Journal of the American Heart Association, EarlyView., 2021
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon   +14 more
wiley   +1 more source

Generation of a new human induced pluripotent stem cell (hiPSC) line from a South Asian Indian with a MYBPC3Δ25bp variant

Stem Cell Research, 2022
Myosin binding protein C3 (MYBPC3) is a thick filament contractile protein that interacts with myosin, titin and actin and regulates cardiac muscle contraction.
Prasanth Chimata, Deepak K Kashyap, Thiagarajan Sairam, Akshayaa Ganesh, Kumarasamy Thangaraj, Meera Purushottam, Biju Viswanath, Sanjeev Jain, Perundurai S Dhandapany   +8 more
doaj   +1 more source

Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males

Open Heart, 2021
Objective One of the challenges in hypertrophic cardiomyopathy (HCM) is to determine the pathogenicity of genetic variants and to establish genotype/phenotype correlations.
Raquel Yotti, Francisco Fernández-Avilés, Javier Bermejo, Ana Isabel Fernandez, Cristina Gómez, Constancio Medrano, Irene Méndez, Maria Ángeles Espinosa, Sofía Cuenca, Rebeca Lorca, José Fernando Rodríguez, Maria Tamargo, Marta García-Montero, Silvia Vilches, Nélida Vázquez, Reyes Álvarez   +15 more
doaj   +1 more source

Natural variant frequencies across domains from different sarcomere proteins cross-correlate to identify inter-protein contacts associated with cardiac muscle function and disease

Molecular Biomedicine, 2021
Coordinated sarcomere proteins produce contraction force for muscle shortening. In human ventriculum they include the cardiac myosin motor (βmys), repetitively converting ATP free energy into work, and myosin binding protein C (MYBPC3) that in complex ...
Thomas P. Burghardt
doaj   +1 more source

Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM [PDF]

, 2023
Background:The pathogenesis of MYBPC3-associated hypertrophic cardiomyopathy (HCM) is still unresolved. In our HCM patient cohort, a large and well-characterized population carrying the MYBPC3:c772G>A variant (p.Glu258Lys, E258K) provides the unique ...
Margara F., Cerbai E., Scellini B., Ferrantini C., Tesi C., Langione M., Schuldt M., Steczina S., Palandri C., Olivotto I., Vitale G., Sacconi L., Mazzarotto F., Coppini R., Giardini F., Santini L., Spinelli V., van der Velden J., Lazzeri E., Pioner J. M., Bueno-Orovio A., Poggesi C., Girolami F., Piroddi N., Regnier M., Schuldt, Maike, van der Velden, Jolanda, Ferrantini, Cecilia, Bueno-Orovio, Alfonso, Cerbai, Elisabetta, Tesi, Chiara, Langione, Marianna, Giardini, Francesco, Girolami, Francesca, Poggesi, Corrado, Lazzeri, Erica, Olivotto, Iacopo, Coppini, Raffaele, Scellini, Beatrice, Santini, Lorenzo, Mazzarotto, Francesco, Velden, Jolanda van der, Vitale, Giulia, Steczina, Sonette, Regnier, Michael, Margara, Francesca, Spinelli, Valentina, Palandri, Chiara, Sacconi, Leonardo, Pioner, Jose' Manuel, Piroddi, Nicoletta, Pioner, Josè Manuel, Raffaele Coppini, Josè Manuel Pioner, Francesca Margara, Alfonso Bueno-Orovio, Giulia Vitale, Nicoletta Piroddi, Valentina Spinelli, Elisabetta Cerbai, Lorenzo Santini, Francesca Girolami, Erica Lazzeri, Marianna Langione, Francesco Mazzarotto, Chiara Palandri, Cecilia Ferrantini, Leonardo Sacconi, Francesco Giardini, Beatrice Scellini, Iacopo Olivotto, Sonette Steczina, Michael Regnier, Maike Schuldt, Chiara Tesi, Corrado Poggesi, Jolanda van der Velden   +76 more
core   +2 more sources

A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity

Balkan Journal of Medical Genetics, 2023
Cardiomyopathies are a heterogeneous group of diseases predominantly affecting the heart muscle and often lead to progressive heart failure-related disability or cardiovascular death.
Peng Y, Xu J, Wang Y, Zhao J, Zhang L, Chen Z, Jiang Y, Banerjee S, Zhang Z, Bai M   +9 more
doaj   +1 more source

I-1-deficiency negatively impacts survival in a cardiomyopathy mouse model

International Journal of Cardiology: Heart & Vasculature, 2015
Aims: Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy, diastolic dysfunction and increased interstitial fibrosis. Current treatment is based on beta-adrenoceptor (AR) and calcium channel blockers.
Felix W. Friedrich, Hannieh Sotoud, Birgit Geertz, Silvio Weber, Frederik Flenner, Silke Reischmann, Thomas Eschenhagen, Lucie Carrier, Ali El-Armouche   +8 more
doaj   +1 more source

ALU transposition induces familial hypertrophic cardiomyopathy

Molecular Genetics & Genomic Medicine, 2020
Background Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiovascular conditions. Pathogenic variants in at least 16 cardiac sarcomeric genes have been implicated in HCM, most of
Landry Nfonsam, Lijia Huang, Nancy Carson, Jean McGowan‐Jordan, Melanie Beaulieu Bergeron, Sharan Goobie, Susan Conacher, David McCarty, Lee Benson, Stacy Hewson, Laura Zahavich, Elizabeth Sinclair‐Bourque, Amanda Smith, Ryan Potter, Mahdi Ghani, Lucas Bronicki, Olga Jarinova   +16 more
doaj   +1 more source