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https://www.readbyqxmd.com/read/28323875/the-clinical-features-outcomes-and-genetic-characteristics-of-hypertrophic-cardiomyopathy-patients-with-severe-right-ventricular-hypertrophy
#1
Xiying Guo, Chaomei Fan, Lei Tian, Yanling Liu, Hongyue Wang, Shihua Zhao, Fujian Duan, Xiuling Zhang, Xing Zhao, Fengqi Wang, Hongguang Zhu, Aiqing Lin, Xia Wu, Yishi Li
INTRODUCTION: Severe right ventricular hypertrophy (SRVH) is a rare phenotype in hypertrophic cardiomyopathy (HCM) for which limited information is available. This study was undertaken to investigate the clinical, prognostic and genetic characteristics of HCM patients with SRVH. METHODS: HCM with SRVH was defined as HCM with a maximum right ventricular wall thickness ≥10 mm. Whole-genome sequencing (WGS) was performed in HCM patients with SRVH. Multivariate Cox proportional hazards regression models were used to identify risk factors for cardiac death and events in HCM with SRVH...
2017: PloS One
https://www.readbyqxmd.com/read/28303410/downregulation-of-myogenic-micrornas-in-sub-chronic-but-not-in-sub-acute-model-of-daunorubicin-induced-cardiomyopathy
#2
Gabriel Doka, Eva Malikova, Kristina Galkova, Giampiero La Rocca, Peter Kruzliak, Mariusz Adamek, Luis Rodrigo, Peter Krenek, Jan Klimas
Cardiac muscle-related microRNAs play important roles in cardiac development and disease by translational silencing of mRNAs, the dominant mechanism of microRNA action. To test whether they could be involved in daunorubicin-associated cardiomyopathy (DACM), we determined expression patterns of myomiRs in two distinct models of DACM. We used 10-12 weeks old male Wistar rats. In the sub-acute model, rats were administered with six doses of daunorubicin (DAU-A, 3 mg/kg, i.p., every 48 h). Rats were sacrificed two days after the last dose...
March 16, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28296734/genetic-anticipation-in-a-special-form-of-hypertrophic-cardiomyopathy-with-sudden-cardiac-death-in-a-family-with-74-members-across-5-generations
#3
Xiying Guo, Chaomei Fan, Yanping Wang, Miao Wang, Chi Cai, Yinjian Yang, Shihua Zhao, Fujian Duan, Yishi Li
Hypertrophic cardiomyopathy (HCM) is the most common heritable heart disease. The genetic anticipation of HCM and its associated etiology, sudden cardiac death (SCD), remains unclear. The aim of this study was to investigate the mechanism underlying the genetic anticipation of HCM and associated SCD.An HCM family including 5 generations and 74 members was studied. Two-dimensional echocardiography was performed to diagnose HCM. The age of onset of HCM was defined as the age at first diagnosis according to hospital records...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28246552/decreased-tissue-cox5b-expression-and-mitochondrial-dysfunction-during-sepsis-induced-kidney-injury-in-rats
#4
Jochen Hinkelbein, Lennert Böhm, Stefan Braunecker, Christoph Adler, Edoardo De Robertis, Fabrizio Cirillo
Background. Sepsis is defined as a life-threatening organ dysfunction due to a dysregulated host response to infection. Sepsis is the dominant cause of acute kidney injury (AKI), accounting for nearly 50% of episodes of acute renal failure. Signaling cascades and pathways within the kidney are largely unknown and analysis of these molecular mechanisms may enhance knowledge on pathophysiology and possible therapeutic options. Material and Methods. 26 male Wistar rats were assigned to either a sham group (control, N = 6) or sepsis group (N = 20; cecal ligature and puncture model, 24 and 48 hours after CLP)...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28246128/a-comprehensive-talen-based-knockout-library-for-generating-human-induced-pluripotent-stem-cell-based-models-for-cardiovascular-diseases
#5
Ioannis Karakikes, Vittavat Termglinchan, Diana A Cepeda, Jaecheol Lee, Sebastian Diecke, Ayal Hendel, Ilanit Itzhaki, Mohamed Ameen, Rajani Shrestha, Haodi Wu, Ning Ma, Ning-Yi Shao, Timon Seeger, Nicole A Woo, Kitchener D Wilson, Elena Matsa, Matthew H Porteus, Vittorio Sebastiano, Joseph C Wu
Rationale: Targeted genetic engineering using programmable nucleases such as transcription activator-like effector nucleases (TALENs) is a valuable tool for precise, site-specific genetic modification in the human genome. Objective: The emergence of novel technologies such as human induced pluripotent stem cells (iPSCs) and nuclease-mediated genome editing represent a unique opportunity for studying cardiovascular diseases in vitro. Methods and Results: By incorporating extensive literature and database searches, we designed a collection of TALEN constructs to knockout (KO) eighty-eight human genes that are associated with cardiomyopathies and congenital heart diseases...
February 28, 2017: Circulation Research
https://www.readbyqxmd.com/read/28210753/puerarin-7-o-glucuronide-a-water-soluble-puerarin-metabolite-prevents-angiotensin-ii-induced-cardiomyocyte-hypertrophy-by-reducing-oxidative-stress
#6
Ning Hou, Bin Cai, Cai-Wen Ou, Zhen-Hui Zhang, Xia-Wen Liu, Mu Yuan, Gan-Jian Zhao, Shi-Ming Liu, Long-Gen Xiong, Jian-Dong Luo, Cheng-Feng Luo, Min-Sheng Chen
This study aimed to investigate the anti-oxidant and anti-hypertrophic effects of puerarin-7-O-glucuronide, a water-soluble puerarin metabolite. The anti-oxidant effects of puerarin-7-O-glucuronide were assessed by measurement of intracellular superoxide levels, total superoxide dismutase (SOD) activity, total anti-oxidant capacity, and glutathione (GSH)/glutathione disulfide (GSSG) ratio in cultured neonatal rat cardiomyocytes (NRCMs) stimulated with the xanthine oxidase (XO)/xanthine (X) system or angiotensin II...
February 16, 2017: Naunyn-Schmiedeberg's Archives of Pharmacology
https://www.readbyqxmd.com/read/28202948/identification-of-pathogenic-variants-in-genes-related-to-channelopathy-and-cardiomyopathy-in-korean-sudden-cardiac-arrest-survivors
#7
Ju Sun Song, Jong-Sun Kang, Young-Eun Kim, Seung-Jung Park, Kyoung-Min Park, June Huh, June Soo Kim, Hana Cho, Chang-Seok Ki, Young Keun On
Pathogenic variants in genes related to channelopathy and cardiomyopathy are the most common cause of sudden unexplained cardiac death. However, few reports have investigated the frequency and/or spectrum of pathogenic variants in these genes in Korean sudden cardiac arrest survivors. This study aimed to investigate the causative genetic variants of cardiac-associated genes in Korean sudden cardiac arrest survivors. We performed exome sequencing followed by filtering and validation of variants in 100 genes related to channelopathy and cardiomyopathy in 19 Korean patients who survived sudden cardiac arrest...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28193612/lack-of-phenotypic-differences-by-cardiovascular-magnetic-resonance-imaging-in-myh7-%C3%AE-myosin-heavy-chain-versus-mybpc3-myosin-binding-protein-c-related-hypertrophic-cardiomyopathy
#8
Adaya Weissler-Snir, Waseem Hindieh, Christiane Gruner, Dana Fourey, Evan Appelbaum, Ethan Rowin, Melanie Care, John R Lesser, Tammy S Haas, James E Udelson, Warren J Manning, Iacopo Olivotto, Benedetta Tomberli, Barry J Maron, Martin S Maron, Andrew M Crean, Harry Rakowski, Raymond H Chan
BACKGROUND: The 2 most commonly affected genes in hypertrophic cardiomyopathy (HCM) are MYH7 (β-myosin heavy chain) and MYBPC3 (β-myosin-binding protein C). Phenotypic differences between patients with mutations in these 2 genes have been inconsistent. Scarce data exist on the genotype-phenotype association as assessed by tomographic imaging using cardiac magnetic resonance imaging. METHODS AND RESULTS: Cardiac magnetic resonance imaging was performed on 358 consecutive genotyped hypertrophic cardiomyopathy probands at 5 tertiary hypertrophic cardiomyopathy centers...
February 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28100873/microrna-10a-targets-t-box-5-to-inhibit-the-development-of-cardiac-hypertrophy
#9
Dan Wang, Guanqun Zhai, Yangfei Ji, Haiyun Jing
The mechanism of cardiac hypertrophy involving microRNAs (miRNAs) is attracting increasing attention. Our study aimed to investigate the role of miR-10a in cardiac hypertrophy development and the underlying regulatory mechanism.Transverse abdominal aortic constriction (TAAC) surgery was performed to establish a cardiac hypertrophy rat model, and angiotensin II (AngII) was used to induce cardiac hypertrophy in cultured neonatal rat cardiomyocytes. Expression of T-box 5 (TBX5) and miR-10a was altered by cell transfection of siRNA or miRNA mimic/inhibitor...
February 7, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28042345/biomimetic-microstructure-morphology-in-electrospun-fiber-mats-is-critical-for-maintaining-healthy-cardiomyocyte-phenotype
#10
Rutwik Rath, Jung Bok Lee, Truc-Linh Tran, Sean F Lenihan, Cristi L Galindo, Yan Ru Su, Tarek Absi, Leon M Bellan, Douglas B Sawyer, Hak-Joon Sung
Despite recent advances in biomimetic substrates, there is still only limited understanding of how the extracellular matrix (ECM) functions in the maintenance of cardiomyocyte (CM) phenotype. In this study, we designed electrospun substrates inspired by morphologic features of non-failing and failing human heart ECM, and examined how these substrates regulate phenotypes of adult and neonatal rat ventricular CMs (ARVM and NRVM, respectively). We found that poly(ε-caprolactone) fiber substrates designed to mimic the organized ECM of a non-failing human heart maintained healthy CM phenotype (evidenced by cell morphology, organized actin/myomesin bands and expression of β-MYH7 and SCN5A...
March 2016: Cellular and Molecular Bioengineering
https://www.readbyqxmd.com/read/28002607/targeting-of-mir-432-to-myozenin1-to-regulate-myoblast-proliferation-and-differentiation
#11
R M Ren, H Liu, S H Zhao, J H Cao
MicroRNAs (miRNAs) play important roles in the development and biochemical functions of skeletal muscles. However, targeting of miRNAs to structural genes involved in Z-discs have not been investigated. Here, we describe a highly expressed miRNA, miR-432, in pig embryonic skeletal muscle, which appeared to target myozenin1 (MYOZ1), a protein involved in the muscular sarcomere microstructure. Our results showed that miR-432 is involved in muscle development in the developing pig. In addition, it promoted differentiation of the C2C12 myoblast cell line into myotubes...
December 19, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28002430/a-novel-hras-mutation-independently-contributes-to-left-ventricular-hypertrophy-in-a-family-with-a-known-myh7-mutation
#12
Maria Elena Sana, Lawrence A Quilliam, Andrea Spitaleri, Laura Pezzoli, Daniela Marchetti, Chiara Lodrini, Elisabetta Candiago, Anna Rita Lincesso, Paolo Ferrazzi, Maria Iascone
Several genetic conditions can lead to left ventricular hypertrophy (LVH). Among them, hypertrophic cardiomyopathy (HCM), caused by mutations in sarcomere genes, is the most common inherited cardiac disease. Instead, RASopathies, a rare class of disorders characterized by neuro-cardio-facial-cutaneous abnormalities and sometimes presenting with LVH, are caused by mutations in the RAS-MAPK pathway. We report on a 62-years-old male who presented isolated severe obstructive LVH but did not carry the sarcomere mutation previously identified in his affected relatives...
2016: PloS One
https://www.readbyqxmd.com/read/27967605/early-developmental-disruption-of-type-2-deiodinase-pathway-in-mouse-skeletal-muscle-does-not-impair-muscle-function
#13
Daniele L Ignacio, Diego H S Silvestre, Elena Anne-Palmer, Barbara M L C Bocco, Tatiana L Fonseca, Miriam O Ribeiro, Balázs Gereben, Antonio C Bianco, Joao P Werneck-de-Castro
BACKGROUND: Myogenesis is positively regulated by thyroid hormone (triiodothyronine [T3]), which is amplified by the type 2 deiodinase (D2) activation of thyroxine to T3. Global inactivation of the Dio2 gene impairs skeletal muscle (SKM) differentiation and regeneration in response to muscle injury. Given that newborn and adult mice with late developmental SKM Dio2 disruption do not develop a significant phenotype, it was hypothesized that D2 plays an early role in this process. METHODS: This was tested in mice with SKM disruption of Dio2 driven by two early developmental promoters: MYF5 and MYOD...
February 10, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27965028/two-de-novo-mutations-in-an-autistic-child-who-had-previously-undergone-transplantation-for-dilated-cardiomyopathy-the-importance-of-keeping-an-open-mind
#14
Umair Sajid, Bob Argiropoulos, Xing-Chang Wei, Jillian S Parboosingh, Ryan E Lamont, Aneal Khan, Steven C Greenway
We report the finding of 2 de novo mutations in an 8-year-old boy with developmental delay and autism who underwent heart transplantation at 1 year of age for idiopathic dilated cardiomyopathy. We identified a de novo microdeletion at chromosome 2p16.3 involving the neurexin-1 (NRXN1) gene and a de novo pathologic variant (Pro838Leu) in the myosin heavy chain 7 (MYH7) gene. This case emphasizes the importance of comprehensive genetic evaluation in patients with cardiomyopathy, particularly if they have extracardiac abnormalities, and the necessity of interpreting variants with attention to the phenotype...
September 26, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27886618/massive-parallel-sequencing-questions-the-pathogenic-role-of-missense-variants-in-dilated-cardiomyopathy
#15
Martin G Dalin, Pär G Engström, Emil G Ivarsson, Per Unneberg, Sara Light, Maria Schaufelberger, Thomas Gilljam, Bert Andersson, Martin O Bergo
BACKGROUND: Germline genetic variants are an important cause of dilated cardiomyopathy (DCM). However, recent sequencing studies have revealed rare variants in DCM-associated genes also in individuals without known heart disease. In this study, we investigate variant prevalence and genotype-phenotype correlations in Swedish DCM patients, and compare their genetic variants to those detected in reference cohorts. METHODS AND RESULTS: We sequenced the coding regions of 41 DCM-associated genes in 176 unrelated patients with idiopathic DCM and found 102 protein-altering variants with an allele frequency of <0...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27885498/prognostic-predictive-value-of-gene-mutations-in-japanese-patients-with-hypertrophic-cardiomyopathy
#16
Ayako Chida, Kei Inai, Hiroki Sato, Eriko Shimada, Tsutomu Nishizawa, Mitsuyo Shimada, Michiko Furutani, Yoshiyuki Furutani, Yoichi Kawamura, Masaya Sugimoto, Jun Ishihara, Masako Fujiwara, Takashi Soga, Masatoshi Kawana, Shinya Fuji, Shigeru Tateno, Kenji Kuraishi, Shigetoyo Kogaki, Mitsuhiro Nishimura, Mamoru Ayusawa, Fukiko Ichida, Hirokuni Yamazawa, Rumiko Matsuoka, Shigeaki Nonoyama, Toshio Nakanishi
Although some studies have attempted to find useful prognostic factors in hypertrophic cardiomyopathy (HCM), those results are not fully helpful for use in actual clinical practice. Furthermore, several genetic abnormalities associated with HCM have been identified. However, the genotype-phenotype correlation in HCM remains to be elucidated. Here, we attempted to assess patients with different types of gene mutations causing HCM and investigate the prognosis. A total of 140 patients with HCM underwent a screening test for myofilament gene mutations by direct sequencing of eight sarcomeric genes...
November 24, 2016: Heart and Vessels
https://www.readbyqxmd.com/read/27789736/impact-of-myh6-variants-in-hypoplastic-left-heart-syndrome
#17
Aoy Tomita-Mitchell, Karl D Stamm, Donna K Mahnke, Min-Su Kim, Pip M Hidestrand, Huan Ling Liang, Mary A Goetsch, Mats Hidestrand, Pippa Simpson, Andrew N Pelech, James S Tweddell, D Woodrow Benson, John W Lough, Michael E Mitchell
Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown. The goal of this study was to characterize a risk gene in HLHS and its effect on HLHS etiology and outcome. We performed next-generation sequencing on a multigenerational family with a high prevalence of CHD/HLHS, identifying a rare variant in the α-myosin heavy chain (MYH6) gene...
December 1, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/27737317/prevalence-and-phenotypic-expression-of-mutations-in-the-myh7-mybpc3-and-tnnt2-genes-in-families-with-hypertrophic-cardiomyopathy-in-the-south-of-brazil-a-cross-sectional-study
#18
Beatriz Piva E Mattos, Fernando Luís Scolari, Marco Antonio Rodrigues Torres, Laura Simon, Valéria Centeno de Freitas, Roberto Giugliani, Úrsula Matte
Background: Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particularly in the south of the country. Objective: To investigate mutations in the sarcomeric genes MYH7, MYBPC3 and TNNT2 in a cohort of HCM patients living in the extreme south of Brazil, and to evaluate genotype-phenotype associations...
September 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27604170/evidence-for-troponin-c-tnnc1-as-a-gene-for-autosomal-recessive-restrictive-cardiomyopathy-with-fatal-outcome-in-infancy
#19
Rafal Ploski, Malgorzata Rydzanicz, Tomasz M Ksiazczyk, Maria Franaszczyk, Agnieszka Pollak, Joanna Kosinska, Ewa Michalak, Piotr Stawinski, Lidia Ziolkowska, Zofia T Bilinska, Bozena Werner
Restrictive cardiomyopathy is a rare form of pediatric cardiac disease, for which the known genes include MYH7, TNNT2, TNNI3, ACTC1, and DES. We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). This association between restrictive cardiomyopathy and TNNC1 mutations was strengthened by prospective observations on the second pregnancy in the family which revealed, in the presence of the same TNNC1 genotype, prenatally diagnosed hypertrophic cardiomyopathy which evolved into restrictive cardiomyopathy, heart failure and death at the age of 9 months...
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27600940/targeted-next-generation-sequencing-helps-to-decipher-the-genetic-and-phenotypic-heterogeneity-of-hypertrophic-cardiomyopathy
#20
Massimiliano Cecconi, Maria I Parodi, Francesco Formisano, Paolo Spirito, Camillo Autore, Maria B Musumeci, Stefano Favale, Cinzia Forleo, Claudio Rapezzi, Elena Biagini, Sabrina Davì, Elisabetta Canepa, Loredana Pennese, Mauro Castagnetta, Dario Degiorgio, Domenico A Coviello
Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to better explain the clinical and genetic heterogeneity in HCM patients, in this study, we implemented a target-next generation sequencing (NGS) assay. An Ion AmpliSeq™ Custom Panel for the enrichment of 19 genes, of which 9 of these did not encode thick/intermediate and thin myofilament (TTm) proteins and, among them, 3 responsible of HCM phenocopy, was created...
October 2016: International Journal of Molecular Medicine
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