Results 91 to 100 of about 7,387 (194)

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

Establishment and characterization of mouse lymph node fibrosis models

Animal Models and Experimental Medicine, Volume 9, Issue 9, Page 1782-1794, September 2026.
The design of the entire paper. Schematic illustration of four strategies for establishing mouse lymph node (LN) fibrosis models. The study further compares their fibrotic remodeling patterns and immune alterations. Abstract Background Lymph node (LN) fibrosis occurs in a variety of pathological conditions, including HIV infection, obesity, cancer, and
Yaru Niu, Xu Guan, Jian Ma, Xin Zhang, Yihang Shi, Jinzhu Zhang, Leiqiong Gao, Wei Chen, Xishan Wang   +8 more
wiley   +1 more source

Is MYBPC3 linked to bicuspid aortic valve? [PDF]

Translational Pediatrics, 2021
Niaz, Talha, Hagler, Donald J.
openaire   +2 more sources

Evaluation of galectin-3 and titin in cats with a sarcomeric gene mutation associated with echocardiography [PDF]

Veterinary World
Background and Aim: Cardiac biomarkers, such as serum galectin-3 (Gal-3) and titin levels, may be related to cats with sarcomeric gene mutations. This study evaluated cardiac biomarkers and echocardiographic parameters in cats with or without myosin ...
Kanokwan Demeekul, Pratch Sukumolanan, Soontaree Petchdee   +2 more
doaj   +1 more source

Early‐stage myocardial changes are not aggravated by Western diet or ageing in Mybpc3 c.2373insG heterozygous mice

The Journal of Physiology, Volume 604, Issue 18, Page 7594-7639, 15 September 2026.
Abstract figure legend Schematic overview of the results. The disease‐modifying effects were investigated by subjecting wild‐type (WT) and heterozygous (HET) Mybpc32373InsG mice to a Western diet for 10 weeks and, in a parallel experiment, ageing them up to 18 months.
Floor W. van den Dolder, Edgar E. Nollet, Vincent A. J. Warnaar, Valentijn J. Jansen, Etto C. Eringa, Bram F. Coolen, Gustav J. Strijkers, Diederik W. D. Kuster, Jolanda van derVelden   +8 more
wiley   +1 more source

Influence of T3 on Active Transcription of MYBPC3 and TNNI3 [PDF]

Biophysical Journal, 2021
Kathrin Kowalski, Jan N. Riesselmann, Natalie Weber, Birgit Piep, Annika Franke, Ulrich Martin, Robert Zweigerdt, Theresia Kraft   +7 more
openaire   +1 more source

Cardiac inflammation in genetic dilated cardiomyopathy caused by MYBPC3 mutation

Journal of Molecular and Cellular Cardiology, 2017
Cardiomyopathies are a leading cause of heart failure and are often caused by mutations in sarcomeric genes, resulting in contractile dysfunction and cellular damage. This may stimulate the production of a robust proinflammatory response. To determine whether myocardial inflammation is associated with cardiac dysfunction in dilated cardiomyopathy (DCM)
Lynch IV, Thomas L., Ismahil, Mohamed Ameen, Jegga, Anil G., Zilliox, Michael J., Troidl, Christian, Prabhu, Sumanth D., Sadayappan, Sakthivel   +6 more
openaire   +2 more sources

Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene

Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology, 2016
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease with variable clinical features that is inherited as autosomal dominant with variable penetrance. Recent developments in genetics of hereditary cardiomyopathy have not only enlightened many points about pathogenesis, but have also provided great benefit to diagnostic approaches
Kilinç O.H., Giray D., Bisgin A., Bozdogan S.T., Karpuz D.   +4 more
openaire   +4 more sources

Perinatal death in pig models of hypertrophic cardiomyopathy carrying sarcomere pathogenic variants

Journal of Molecular and Cellular Cardiology Plus
Hypertrophic cardiomyopathy (HCM) is an autosomal-dominant disease caused by genetic variants in sarcomeric proteins, particularly in myosin binding protein C3 (MYBPC3) and myosin heavy chain 7 (MYH7).
Tatiana Flisikowska, Björn Petersen, Giulia Mearini, Daniela Huber, Mayuko Kurome, Melanie Stoff, Saskia Schlossarek, Andrea Lucas-Hahn, Eckhard Wolf, Judith Montag, Angelika Schnieke, Lucie Carrier   +11 more
doaj   +1 more source

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