Results 101 to 110 of about 7,387 (194)

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

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene

BMC Medical Genetics, 2008
Background Mutations in MYBPC3 encoding myosin binding protein C belong to the most frequent causes of hypertrophic cardiomyopathy (HCM) and may also lead to dilated cardiomyopathy (DCM).
Lehrke Stephanie, Zeller Raphael, Pribe Regina, Steen Henning, Zehelein Jörg, Weichenhan Dieter, Ehlermann Philipp, Zugck Christian, Ivandic Boris T, Katus Hugo A   +9 more
doaj   +1 more source

CADASIL-like cerebral vasculopathy in a patient with a heterozygous MYBPC3 likely pathogenic splice site variant

MYBPC3 (Myosin-binding site protein C3) alterations are associated with hypertrophic cardiomyopathy (HCM). However, the neuroimaging features of these patients are not well-described in the literature.
Olarewaju, Bukola A., Harahsheh, Ehab, Weaver, Deanna M., Osundiji, Mayowa A., Boczek, Nicole J., Ingall, Timothy J., Vanood, Aimen   +6 more
core   +1 more source

The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.

, 2022
MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). Several loss-of-function founder variants have been reported in MYBPC3 from various geographic regions, altogether suggestive of a modest or absent effect of these variants ...
Monney, P., Sekarski, N., Émeline, D., Pavlidou, D.C., Porretta, A.P., Maurer, F., Pruvot, E., Bedoni, N., Atallah, I., Redin, C., Jeanrenaud, X., Fellay, J., Bhuiyan, Z., Superti-Furga, A.   +13 more
core   +1 more source

Contractile Defect Caused by Mutation in MYBPC3 Revealed under Conditions Optimized for Human PSC-Cardiomyocyte Function [PDF]

, 2015
Maximizing baseline function of human pluripotent stem cell-derived cardiomyocytes (hPSC-CMs) is essential for their effective application in models of cardiac toxicity and disease.
Ribeiro, M.C. (Marcelo C.), Birket, Matthew J; id_orcid, van de Pol, V. (Vera), Passier, R. (Robert), Ribeiro, Marcelo C, Devalla, Harsha D, Mastroberardino, Pier G, van de Pol, V, Douwe E. Atsma, Ward, D, Dambrot, C. (Cheryl), Mummery, C.L. (Christine), Kosmidis, G, Ward, Dorien, Mummery, CL, Dambrot, Cheryl, Ward, D., Mastroberardino, Pier, Matthew J. Birket, Davis, RP, Pier G. Mastroberardino, Birket, M.J., Georgios Kosmidis, Kosmidis, G., Mummery, C.L., Devalla, HD, Vera van de Pol, Passier, Robert, Leitoguinho, A.R., Harsha D. Devalla, Dorien Ward, Ward, D. (Dorien), Dambrot, C., Birket, M.J. (Matthew J.), Cheryl Dambrot, Atsma, Douwe E, Passier, R., Dambrot, C, Ribeiro, MC, Pol, V. van de, Atsma, DE, Ribeiro, M.C., Atsma, D.E., Kosmidis, Georgios, Ana Rita Leitoguinho, Passier, R, Richard P. Davis, Leitoguinho, A.R. (Ana Rita), Marcelo C. Ribeiro, Mastroberardino, P.G., Leitoguinho, AR, Christine L. Mummery, Davis, Richard P, Davis, R.P. (Richard P.), Mastroberardino, P.G. (Pier), Devalla, H.D., Atsma, D.E. (Douwe), Robert Passier, Birket, MJ, Davis, R.P., Devalla, H.D. (Harsha D.), Mummery, Christine L, Kosmidis, G. (Georgios), Leitoguinho, Ana Rita, van de Pol, Vera, Devalla, Harsha D., Birket, Matthew J., Davis, Richard P., Atsma, Douwe E., Mastroberardino, Pier G., Ribeiro, Marcelo C., Mummery, Christine L.   +71 more
core   +1 more source

ANALYSIS OF TRANSCRIPTS AND CARDIAC MYOSIN-BINDING PROTEIN WITH VARIANTS OF UNCERTAIN SIGNIFICANCE IN CARDIOMYOCYTES

Folia Medica Indonesiana
Mutations in the myosin-binding protein C (MYBPC3) gene, particularly variants of uncertain significance (VUS), are associated with cardiomyopathies. This systematic review aims to analyze the impact of VUS mutations in MYBPC3 on transcripts and proteins
Egas Manuel Guterres, Luis Manuel Guterres   +1 more
doaj   +1 more source

Unraveling Dilated Cardiomyopathy Linked to an Enigmatic MYBPC3 Variant [PDF]

Background: Non-ischemic cardiomyopathy (NICM), can arise from various causes, including hemodynamic pathology, infections, immunologic abnormalities, toxic injuries, and genetic factors.
Alejos, Carlos, Rojas, Jennifer, Stone, James, Memon, Sobia, Ngo, Khiem D   +4 more
core   +1 more source

Análisis del gen MyBPC3 en pacientes con miocardiopatía hipertrófica familiar [PDF]

, 2010
[Resumen] Introducción y Objetivos Las mutaciones en el gen MyBPC3 están entre las causas más frecuentes de miocardiopatía hipertrófica(MCH), de todas formas su prevalencia varía entre las distintas poblaciones.
Rodríguez García, María Isabel
core  

Functional assessment of new MYBPC3 variants associated with Hypertrophic Cardiomyopathy [PDF]

, 2018
Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the myocardium. In ~60% of the cases HCM is caused by mutations in sarcomeric proteins, such as cardiac Myosin Binding Protein C (cMyBPC), which are responsible for generating the ...
Pricolo, Maria Rosaria
core   +1 more source

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

, 2006
Background: Idiopathic ( primary) hypertrophic cardiomyopathy (HCM) is mainly caused by mutations in genes encoding sarcomeric proteins. One of the most commonly mutated HCM genes is the myosin binding protein C (MYBPC3) gene. Mutations in this gene lead
Stolte-Dijkstra, I., van Hagen, J. M., Alders, M., Deprez, R. H. Lekanne, Muurling-Vlietman, J. J., Baars, M. J. H., Wijnaendts, L. C. D., Hruda, J.   +7 more
core   +1 more source