Results 121 to 130 of about 9,138 (204)

Sarcomeric hypertrophic cardiomyopathy: Genetic profile in a Portuguese population

Revista Portuguesa de Cardiologia, 2012
Background: Sarcomeric hypertrophic cardiomyopathy has heterogeneous phenotypic expressions, of which sudden cardiac death is the most feared. A genetic diagnosis is essential to identify subjects at risk in each family.
Dulce Brito, Gabriel Miltenberger-Miltenyi, Sónia Vale Pereira, Doroteia Silva, António Nunes Diogo, Hugo Madeira   +5 more
doaj   +1 more source

Investigation of phenotypic rescue of Mybpc3 deficient mouse

, 2015
Mutations in the myosin binding protein C gene (MYBPC3) are a frequent cause of hypertrophic cardiomyopathy (HCM) and calcineurin plays a major role in hypertrophic remodelling. However, a functional link between MYBPC3 mutations and calcineurin has not been investigated.
openaire   +3 more sources

Nebivolol Desensitizes Myofilaments of a Hypertrophic Cardiomyopathy Mouse Model

Frontiers in Physiology, 2017
Background: Hypertrophic cardiomyopathy (HCM) patients often present with diastolic dysfunction and a normal to supranormal systolic function. To counteract this hypercontractility, guideline therapies advocate treatment with beta-adrenoceptor and Ca2 ...
Sabrina Stücker, Sabrina Stücker, Nico Kresin, Nico Kresin, Lucie Carrier, Lucie Carrier, Felix W. Friedrich, Felix W. Friedrich   +7 more
doaj   +1 more source

Exploring RNA-targeted gene therapy approaches for hypertrophic cardiomyopathy [PDF]

, 2012
Relatório de projeto no âmbito do Programa de Bolsas Universidade de Lisboa/Fundação Amadeu Dias (2011/2012). Universidade de Lisboa.
Freitas, Ana
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Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines

Frontiers in Veterinary Science
IntroductionThe correct labeling of a genetic variant as pathogenic is important as breeding decisions based on incorrect DNA tests can lead to the unwarranted exclusion of animals, potentially compromising the long-term health of a population.
Fréderique Boeykens, Marie Abitbol, Heidi Anderson, Tanushri Dargar, Paolo Ferrari, Paolo Ferrari, Philip R. Fox, Jessica J. Hayward, Jens Häggström, Stephen Davison, Mark D. Kittleson, Frank van Steenbeek, Ingrid Ljungvall, Leslie A. Lyons, Maria Longeri, Åsa Ohlsson, Luc Peelman, Caroline Dufaure de Citres, Pascale Smets, Maria Elena Turba, Bart J. G. Broeckx   +20 more
doaj   +1 more source

Vergelijkende erfelijke en pathogenische kenmerken van hypertrofische cardiomyopathie bij de kat en de mens [PDF]

, 2015
Hypertrophic cardiomyopathy (HCM) is characterized by a hypertrophic, non-dilated left ventricle. With a prevalence of approximately 0.2% in humans and 15% in cats, this is one of the most common heart diseases.
Ducatelle, Richard, Lhomme, Michelle
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DNA variation in myoMIRs of the 1, 133, and 208 families in hypertrophic cardiomyopathy [PDF]

, 2013
MicroRNAs (miRNAs) are small RNAs that bind to mRNAs and regulate gene expression. MyoMirs are miRNAs implicated in cardiogenesis. Some MyoMirs have been found deregulated in hearts from patients with left ventricular hypertrophy (LVH).
Alonso, Belén, Corao, A.I. (Ana), Coto, Eliecer, Díaz, Marta, Martín, María, Morís, César, Palacín, María, Reguero, J.R. (Julián), Álvarez, Victoria   +8 more
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Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations

Stem Cell Research
Familial hypertrophic cardiomyopathy (HCM) stands as a predominant heart condition, characterised by left ventricle hypertrophy in the absence of any associated loading conditions, with affected individuals having an increased risk of developing heart ...
Marta Ribeiro, Joanna Jager, Marta Furtado, Teresa Carvalho, Joaquim M.S. Cabral, Dulce Brito, Maria Carmo-Fonseca, Sandra Martins, Simão Teixeira da Rocha   +8 more
doaj   +1 more source

Resequencing the whole MYH7 gene (including the intronic, promoter, and 3´ UTR sequences) in hypertrophic cardiomyopathy [PDF]

, 2012
MYH7 mutations are found in approximately 20% of hypertrophic cardiomyopathy (HCM) patients. Currently, mutational analysis is based on the sequencing of the coding exons and a few exon-flanking intronic nucleotides resulting in omission of single exon ...
Alonso, Belén, Corao, A.I. (Ana), Coto, Eliecer, Díaz, Marta, Díaz-Molina, Beatriz, Gómez, Juan, Martín, María, Morales, Carlos, Morís, César, Palacín, María, Reguero, J.R. (Julián), Rodríguez-Lambert, J.L. (José), Tavira, Beatriz, Álvarez, Victoria   +13 more
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Study the presence of mutations in exons 30 and 33 MYBPC3 gene in patients with hypertrophic cardiomyopathy by PCR-SSCP/HA method in Chaharmahal and Bakhtiari [PDF]

, 2016
Background and aims: HCM is a common form of hereditary heart disease with Mendelian inheritance that is a frequent cause of sudden cardiac death in the people younger than 35 years. In more than 50% of cases the cause of HCM identified as gene mutations.
Doosti, Abbas., Hashemzadeh-Chaleshtori, Morteza., Parchami Barjui, Shahrbanoo., Sheikhshahrokh, Amir Hossein.   +3 more
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