Results 121 to 130 of about 7,387 (194)

Natural Missplicing Events Amplified by an Elusive Deep-Intronic <i>MYBPC3</i> Variant Cause Hypertrophic Cardiomyopathy. [PDF]

Circulation
Gallego-Delgado M, Lorenzo Hernández SM, García Hernández S, Rodríguez-Diego S, Heredero-Jung DH, Maneiro Pampín E, Pérez-Barbeito M, García Monsalvo M, García-Berrocal B, Rincón LM, García-Salgado MJ, Arnáiz-García ME, Álvarez Martínez C, Díaz-Peláez E, Merino AM, Roldán Á, Mayorga A, Martínez E, Ruiz Olgado MJ, Rodríguez Estévez L, Perdiguero PD, Voces R, Cruz-González I, Sánchez PL, Isidoro-García M, Ochoa JP, Villacorta E, Torrado M.   +27 more
europepmc   +1 more source

Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy.

, 2010
Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by cardiac hypertrophy caused by mutations in sarcomere protein genes. MYBPC3 mutations are reported as a frequent cause of HCM.
VOLPE, Massimo, Gil R, RUBATTU, Speranza Donatella, Di Castro S, Carracedo A, Evangelista A, Brion M, Stanzione R, Blanco Verea A, PAGANNONE, erika, Allegue C, Marchitti S   +11 more
core  

Genetic vulnerability and dynamic mechanical stress synergistically drive sarcomere failure in human iPSC-derived cardiomyocytes. [PDF]

Mater Today Bio
Wang C, Mai NY, Donelson FJ, Moradi Nasab S, Shi H, Yang H, Mather PT, Wang X, Henderson JH, Ma Z.   +9 more
europepmc   +1 more source

Genotype-Phenotype Associations in Pediatric Hypertrophic Cardiomyopathy: A Study From the Pediatric Cardiomyopathy Registry. [PDF]

JACC Heart Fail
Pahl E, Ware SM, Shi L, Colan SD, Everitt MD, Sleeper LA, Sridhar A, Schubert JA, Canter CE, Hsu DT, Webber SA, Kantor PF, Rossano JW, Chung WK, Lee TM, Towbin JA, Lal AK, Tariq M, Bhatnagar S, Dexheimer PJ, Aronow BJ, Martin LJ, Miller EM, Bansal N, Lipshultz SE.   +24 more
europepmc   +1 more source

Metabolomic biomarkers and metabolic remodelling in genetically characterised hypertrophic cardiomyopathy: a systematic review. [PDF]

Metabolomics
Ahmad Razmy AH, Abd Latip N, Ab-Rahim S, Sheikh Abdul Kadir SH.   +3 more
europepmc   +1 more source

Hypertrophic Cardiomyopathy is a Disease of Sarcomere Proteins. [PDF]

Methodist Debakey Cardiovasc J
Marian AJ.
europepmc   +1 more source

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy. [PDF]

Genes (Basel)
Cristalli CP, Schiavo MA, Foti MRS, Calabrese S, Isidori F, Margutti A, Laricchiuta P, Governatori G, Lai F, Uliana V, Barocelli F, De Maria E, Fucili A, Sassone B, Parmeggiani G, Perugini E, Lucca C, Cappuccini F, Pezzoli L, Iascone M, Piane M, Vitale G, Graziano C, Selvatici R, Ferlini A, Graziosi M, Biagini E, Turchetti D, Gualandi F, Rossi C.   +29 more
europepmc   +1 more source

Biomechanical stress unmasks a fibroblast-dependent hypercontractile-disarray phenotype in MYBPC3 truncation HCM. [PDF]

APL Bioeng
Jiang H, Malayath G, Devi ND, Chou HC, Kargar Gaz Kooh Y, Guo J, Ramahdita G, Nguyen J, Bhakta R, Aryan L, Cresci S, Huebsch N.   +11 more
europepmc   +1 more source

Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy. [PDF]

Circulation
Yamamoto Y, Chua K, Staudt D, Ferrasse A, Kirillova A, De Jong HN, Floyd BJ, Cadisch C, Wiel L, Wang Q, O'Neill MJ, Tabet D, Goryznski JE, Huang Y, Bai F, Wilson RH, Sharma A, Tapales A, Agrawal R, Wheeler MT, Mercola M, MacRae CA, Roden DM, Roth FP, Glazer AM, Ashley EA, Parikh VN.   +26 more
europepmc   +1 more source

Case Report: A novel MYBPC3 gene variant in a Chinese patient with hypertrophic cardiomyopathy and apical ventricular aneurysm, with a concurrent novel KCNJ5 gene variant. [PDF]

Front Cardiovasc Med
Han S, Zhang YY, Geng J.
europepmc   +1 more source