keyword
MENU ▼
Read by QxMD icon Read
search

myh7

keyword
https://www.readbyqxmd.com/read/28912181/hypertrophic-cardiomyopathy-genetics-pathogenesis-clinical-manifestations-diagnosis-and-therapy
#1
REVIEW
Ali J Marian, Eugene Braunwald
Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle with preserved or increased ejection fraction. It is commonly asymmetrical with the most severe hypertrophy involving the basal interventricular septum. Left ventricular outflow tract obstruction is present at rest in about one third of the patients and can be provoked in another third. The histological features of HCM include myocyte hypertrophy and disarray, as well as interstitial fibrosis...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28866666/the-cumulative-effects-of-the-myh7-v878a-and-cacna1c-a1594v-mutations-in-a-chinese-family-with-hypertrophic-cardiomyopathy
#2
Bo Wang, Rui-Qi Guo, Jing Wang, Fan Yang, Lei Zuo, Ying Liu, Hong Shao, Yan Ju, Chao Sun, Lei Xu, Yan-Min Zhang, Li-Feng Wang, Li-Wen Liu
AIMS: We investigated the pathogenesis of MYH7-V878A and CACNA1C-A1594V mutations in a Chinese family with hypertrophic cardiomyopathy. METHODS: Clinical, electrocardiographic (ECG), echocardiographic, and cardiac magnetic resonance (CMR) examinations of members of a Chinese family were followed by exon and boarding intron analyses of 96 genes in the proband using second-generation sequencing. We confirmed the mutations by bidirectional Sanger sequencing in the members and in 300 healthy controls...
September 2, 2017: Cardiology
https://www.readbyqxmd.com/read/28864942/a%C3%A2-dutch-myh7-founder-mutation-p-asn1918lys-is-associated-with-early-onset-cardiomyopathy-and-congenital-heart-defects
#3
I H M van der Linde, Y L Hiemstra, R Bökenkamp, A M van Mil, M H Breuning, C Ruivenkamp, S W Ten Broeke, R F Veldkamp, J I van Waning, M A van Slegtenhorst, K Y van Spaendonck-Zwarts, R H Lekanne Deprez, J C Herkert, L Boven, P A van der Zwaag, J D H Jongbloed, M Bootsma, D Q C M Barge-Schaapveld
BACKGROUND: Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. METHODS: In this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p. (Asn1918Lys), present in 15 probands and 65 family members. RESULTS: Of the 80 carriers (age range 0-88 years), 46 (57.5%) had cardiomyopathy (mainly dilated cardiomyopathy (DCM)) and seven (8...
September 1, 2017: Netherlands Heart Journal
https://www.readbyqxmd.com/read/28855170/a-wide-and-specific-spectrum-of-genetic-variants-and-genotype-phenotype-correlations-revealed-by-next-generation-sequencing-in-patients-with-left-ventricular-noncompaction
#4
Ce Wang, Yukiko Hata, Keiichi Hirono, Asami Takasaki, Sayaka Watanabe Ozawa, Hideyuki Nakaoka, Kazuyoshi Saito, Nariaki Miyao, Mako Okabe, Keijiro Ibuki, Naoki Nishida, Hideki Origasa, Xianyi Yu, Neil E Bowles, Fukiko Ichida
BACKGROUND: Left ventricular noncompaction (LVNC) has since been classified as a primary genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present study was to identify the genetic spectrum using next-generation sequencing and to evaluate genotype-phenotype correlations in LVNC patients. METHODS AND RESULTS: Using next-generation sequencing, we targeted and sequenced 73 genes related to cardiomyopathy in 102 unrelated LVNC patients...
August 30, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28840316/clinical-outcomes-associated-with-sarcomere-mutations-in-hypertrophic-cardiomyopathy-a-meta-analysis-on-7675-individuals
#5
Farbod Sedaghat-Hamedani, Elham Kayvanpour, Oguz Firat Tugrul, Alan Lai, Ali Amr, Jan Haas, Tanja Proctor, Philipp Ehlermann, Katrin Jensen, Hugo A Katus, Benjamin Meder
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, which goes along with increased risk for sudden cardiac death (SCD). Despite the knowledge about the different causal genes, the relationship between individual genotypes and phenotypes is incomplete. METHODS AND RESULTS: We retrieved PubMed/Medline literatures on genotype-phenotype associations in patients with HCM and mutations in MYBPC3, MYH7, TNNT2, and TNNI3. Altogether, 51 studies with 7675 HCM patients were included in our meta-analysis...
August 24, 2017: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
https://www.readbyqxmd.com/read/28838967/molecular-regulation-of-high-muscle-mass-in-developing-blonde-d-aquitaine-cattle-fetuses
#6
Isabelle Cassar-Malek, Céline Boby, Brigitte Picard, Antonio Reverter, Nicholas J Hudson
The Blonde d'Aquitaine (BA) is a French cattle breed with enhanced muscularity, partly attributable to a MSTN mutation. The BA m. Semitendinosus has a faster muscle fibre isoform phenotype comprising a higher proportion of fast type IIX fibres compared to age matched Charolais (CH). To better understand the molecular network of modifications in BA compared to CH muscle, we assayed the transcriptomes of the m. Semitendinosus at 110, 180, 210 and 260 days post conception (dpc). We used a combination of differential expression (DE) and Regulatory Impact Factors (RIF) to compare and contrast muscle gene expression between the breeds...
August 24, 2017: Biology Open
https://www.readbyqxmd.com/read/28815794/finding-the-candidate-sequence-variants-for-diagnosis-of-hypertrophic-cardiomyopathy-in-east-slovak-patients
#7
Michaela Zigova, Jarmila Bernasovska, Iveta Boronova, Marta Mydlarova Blascakova, Jan Kmec
BACKGROUND: Hypertrophic cardiomyopathy is a heterogeneous myocardial disease. Mutations appearing in several genes might be a potential cause of the disease. The aim of the study was to analyze selected exons of the sarcomeric and non-sarcomeric genes, with the purpose to identify potential candidate genetic variants and to understand etiopathogenetic mechanisms of hypertrophic cardiomyopathy in East Slovak patients. METHODS: This study recruited 23 unrelated patients with hypertrophic cardiomyopathy, namely, 13 men and 10 women (mean age of 58...
August 16, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28806941/androgen-receptor-is-expressed-in-mouse-cardiomyocytes-at-prenatal-and-early-postnatal-developmental-stages
#8
Enrique Pedernera, María José Gómora, Iván Meneses, Marlon De Ita, Carmen Méndez
BACKGROUND: Previous studies show that androgens are involved in hypertrophy and excitability of cardiomyocytes and that their effects are mediated through their receptor. The aim of this study was to evaluate the presence of androgen receptor (AR) in mouse heart during prenatal and early postnatal stages. RESULTS: The expression of AR and related genes, alpha myosin heavy chain -Myh6-, beta myosin heavy chain -Myh7- and atrial natriuretic factor -Nppa- was simultaneously evaluated by semiquantitative RT-PCR...
August 14, 2017: BMC Physiology
https://www.readbyqxmd.com/read/28794400/tbx18-positive-cells-differentiated-from-murine-es-cells-serve-as-proepicardial-progenitors-to-give-rise-to-vascular-smooth-muscle-cells-and-fibroblasts
#9
Nobuhito Ikeda, Natsumi Nakazawa, Yasutaka Kurata, Hisako Yaura, Fikri Taufiq, Hiroyuki Minato, Akio Yoshida, Haruaki Ninomiya, Yuji Nakayama, Masanari Kuwabara, Yasuaki Shirayoshi, Ichiro Hisatome
Proepicardium (PE) cells generate cardiac fibroblasts, smooth muscle cells (SMCs) and endothelial cells that form coronary arteries. T-box18 (Tbx18) is a well-known marker of PE cells and epicardium. We examined whether Tbx18-positive cells differentiated from murine embryonic stem (ES) cells serve as PE progenitors to give rise to vascular SMCs and fibroblasts. To collect Tbx18-positive cells, we established Tbx18-EGFP knock-in mouse ES cells using the CRISPR/Cas9 system. We harvested the Tbx18-EGFP-positive cells on day 8, 10 and 14 after the initiation of differentiation; Tbx18 mRNA was enriched on day 8 to 14 and Snai2 mRNA was enriched on day 8 and 10, indicating successful collection of Tbx18-positive cells...
2017: Biomedical Research
https://www.readbyqxmd.com/read/28777849/-analysis-of-genotype-and-phenotype-correlation-of-myh7-v878a-mutation-among-ethnic-han-chinese-pedigrees-affected-with-hypertrophic-cardiomyopathy
#10
Bo Wang, Ruiqi Guo, Lei Zuo, Hong Shao, Ying Liu, Yu Wang, Yan Ju, Chao Sun, Lifeng Wang, Yanmin Zhang, Liwen Liu
OBJECTIVE: To analyze the phenotype-genotype correlation of MYH7-V878A mutation. METHODS: Exonic amplification and high-throughput sequencing of 96-cardiovascular disease-related genes were carried out on probands from 210 pedigrees affected with hypertrophic cardiomyopathy (HCM). For the probands, their family members, and 300 healthy volunteers, the identified MYH7-V878A mutation was verified by Sanger sequencing. Information of the HCM patients and their family members, including clinical data, physical examination, echocardiography (UCG), electrocardiography (ECG), and conserved sequence of the mutation among various species were analyzed...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28771489/additional-value-of-screening-for-minor-genes-and-copy-number-variants-in-hypertrophic-cardiomyopathy
#11
Irene Mademont-Soler, Jesus Mates, Raquel Yotti, Maria Angeles Espinosa, Alexandra Pérez-Serra, Ana Isabel Fernandez-Avila, Monica Coll, Irene Méndez, Anna Iglesias, Bernat Del Olmo, Helena Riuró, Sofía Cuenca, Catarina Allegue, Oscar Campuzano, Ferran Picó, Carles Ferrer-Costa, Patricia Álvarez, Sergio Castillo, Pablo Garcia-Pavia, Esther Gonzalez-Lopez, Laura Padron-Barthe, Aranzazu Díaz de Bustamante, María Teresa Darnaude, José Ignacio González-Hevia, Josep Brugada, Francisco Fernandez-Aviles, Ramon Brugada
INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the diagnostic value of screening for minor and candidate genes, and the role of copy number variants (CNVs) deserves further evaluation. METHODS: Three hundred and eighty-seven consecutive unrelated patients with HCM were screened for genetic variants in the 5 most frequent genes (MYBPC3, MYH7, TNNT2, TNNI3 and TPM1) using Sanger sequencing (N = 84) or NGS (N = 303)...
2017: PloS One
https://www.readbyqxmd.com/read/28769032/vestigial-like-2-contributes-to-normal-muscle-fiber-type-distribution-in-mice
#12
Masahiko Honda, Kyoko Hidaka, So-Ichiro Fukada, Ryo Sugawa, Manabu Shirai, Masahito Ikawa, Takayuki Morisaki
Skeletal muscle is composed of heterogeneous populations of myofibers that are classified as slow- and fast-twitch fibers. The muscle fiber-type is regulated in a coordinated fashion by multiple genes, including transcriptional factors and microRNAs (miRNAs). However, players involved in this regulation are not fully elucidated. One of the members of the Vestigial-like factors, Vgll2, is thought to play a pivotal role in TEA domain (TEAD) transcription factor-mediated muscle-specific gene expression because of its restricted expression in skeletal muscles of adult mice...
August 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28752107/muscle-histology-characterization-using-h-e-staining-and-muscle-fiber-type-classification-using-immunofluorescence-staining
#13
Chao Wang, Feng Yue, Shihuan Kuang
Muscle function is determined by its structure and fiber type composition. Here we describe a protocol to examine muscle histology and myofiber types using hematoxylin and eosin (H&E) and immunofluorescence staining, respectively. H&E stain nucleus in blue and cytoplasm in red, therefore allowing for morphological analyses, such as myofiber diameter, the presence of degenerated and regenerated myofibers, and adipocytes and fibrotic cells. Muscle fibers in adult skeletal muscles of rodents are classified into 4 subtypes based on the expression of myosin heavy chain proteins: Myh7 (type I fiber), Myh2 (type IIA fiber), Myh1 (type IIX fiber), Myh4 (type IIB fiber)...
May 20, 2017: Bio-protocol
https://www.readbyqxmd.com/read/28715029/anisotropic-microfibrous-scaffolds-enhance-the-organization-and-function-of-cardiomyocytes-derived-from-induced-pluripotent-stem-cells
#14
Maureen Wanjare, Luqia Hou, Karina H Nakayama, Joseph J Kim, Nicholas P Mezak, Oscar J Abilez, Evangeline Tzatzalos, Joseph C Wu, Ngan F Huang
Engineering of myocardial tissue constructs is a promising approach for treatment of coronary heart disease. To engineer myocardial tissues that better mimic the highly ordered physiological arrangement and function of native cardiomyocytes, we generated electrospun microfibrous polycaprolactone scaffolds with either randomly oriented (14 μm fiber diameter) or parallel-aligned (7 μm fiber diameter) microfiber arrangement and co-seeded the scaffolds with human induced pluripotent stem cell-derived cardiomyocytes (iCMs) and endothelial cells (iECs) for up to 12 days after iCM seeding...
July 25, 2017: Biomaterials Science
https://www.readbyqxmd.com/read/28708594/hypoxia-favors-myosin-heavy-chain-beta-gene-expression-in-an-hif-1alpha-dependent-manner
#15
Lucia Binó, Jiřina Procházková, Katarzyna Anna Radaszkiewicz, Jan Kučera, Jana Kudová, Jiří Pacherník, Lukáš Kubala
The potentiation of the naturally limited regenerative capacity of the heart is dependent on an understanding of the mechanisms that are activated in response to pathological conditions such as hypoxia. Under these conditions, the expression of genes suggested to support cardiomyocyte survival and heart adaptation is triggered. Particularly important are changes in the expression of myosin heavy chain (MHC) isoforms. We propose here that alterations in the expression profiles of MHC genes are induced in response to hypoxia and are primarily mediated by hypoxia inducible factor (HIF)...
July 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/28699631/co-inheritance-of-mutations-associated-with-arrhythmogenic-cardiomyopathy-and-hypertrophic-cardiomyopathy
#16
Marzia De Bortoli, Chiara Calore, Alessandra Lorenzon, Martina Calore, Giulia Poloni, Elisa Mazzotti, Ilaria Rigato, Martina Perazzolo Marra, Paola Melacini, Sabino Iliceto, Gaetano Thiene, Cristina Basso, Luciano Daliento, Domenico Corrado, Alessandra Rampazzo, Barbara Bauce
Arrhythmogenic cardiomyopathy (ACM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically distinct disorders of the myocardium. Here we describe for the first time co-inheritance of mutations in genes associated with ACM or HCM in two families with recurrence of both cardiomyopathies. Among the double heterozygotes for mutations in desmoplakin (DSP) and myosin binding protein C (MYBPC3) genes identified in Family A, two were diagnosed with ACM and two with HCM. In Family B, one patient was identified to carry mutations in α-T-catenin (CTTNA3) and β-myosin (MYH7) genes, but he does not fulfill the current diagnostic criteria neither for ACM nor for HCM...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28657075/bioinspired-onion-epithelium-like-structure-promotes-the-maturation-of-cardiomyocytes-derived-from-human-pluripotent-stem-cells
#17
Cong Xu, Li Wang, Yue Yu, Fangchao Yin, Xiaoqing Zhang, Lei Jiang, Jianhua Qin
Organized cardiomyocyte alignment is critical to maintain the mechanical properties of the heart. In this study, we present a new and simple strategy to fabricate a biomimetic microchip designed with an onion epithelium-like structure and investigate the guided behavior of human induced pluripotent stem cell derived cardiomyocytes (hiPSC-CMs) on the substrate. The hiPSC-CMs were observed to be confined by the three dimensional surficial features morphologically, analogous to the in vivo microenvironment, and exhibited an organized anisotropic alignment on the onion epithelium-like structure with good beating function...
August 22, 2017: Biomaterials Science
https://www.readbyqxmd.com/read/28654758/looking-into-a-whale-s-heart-investigating-a-genetic-basis-for-cardiomyopathy-in-a-non-model-species
#18
Amélia Viricel, Patricia E Rosel
Understanding the pathogenesis of complex diseases can benefit from multi-species comparative studies. Yet these studies rarely include natural populations of non-model species. Here, we focused on the cause of a heart muscle disease, cardiomyopathy (CM), affecting multiple mammalian species including humans, cats, dogs, and certain species of whales. Mutations in genes coding for sarcomeric proteins have been identified as a leading cause for CM in humans, and some were also revealed to be responsible for CM in cats...
June 27, 2017: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/28642161/digenic-inheritance-of-mutations-in-the-cardiac-troponin-tnnt2-and-cardiac-beta-myosin-heavy-chain-myh7-as-the-cause-of-severe-dilated-cardiomyopathy
#19
Evmorfia Petropoulou, Mohammadhossein Soltani, Ali Dehghani Firoozabadi, Seyedeh Mahdieh Namayandeh, Jade Crockford, Reza Maroofian, Yalda Jamshidi
Familial dilated cardiomyopathy (DCM) is characterized by ventricular dilation and depressed myocardial performance. It is a genetically heterogeneous disorder associated with mutations in over 60 genes. We carried out whole exome sequencing in combination with cardiomyopathy-related gene-filtering on two affected family members to identify the possible causative mutation in a consanguineous Iranian family with DCM. Two novel variants in cardiomyopathy-related genes were identified: c.247 A > C; p.N83H in the Troponin T Type 2 gene (TNNT2) and c...
September 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28615295/burden-of-recurrent-and-ancestral-mutations-in-families-with-hypertrophic-cardiomyopathy
#20
Samantha Barratt Ross, Richard D Bagnall, Jodie Ingles, J Peter Van Tintelen, Christopher Semsarian
BACKGROUND: Hypertrophic cardiomyopathy is a genetically heterogeneous myocardial disease with >1000 causal variants identified. Nonunique variants account for disease in many families. We sought to characterize nonunique variants in Australian families and determine whether they arise from common ancestral mutations or recurrent mutation events. METHODS AND RESULTS: Genetic test results of 467 index patients from apparently unrelated families with hypertrophic cardiomyopathy were evaluated...
June 2017: Circulation. Cardiovascular Genetics
keyword
keyword
75550
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"