Genetic advances in sarcomeric cardiomyopathies: state of the art. - Wikidata - awgldk - TriplyDB

Genetic advances in sarcomeric cardiomyopathies: state of the art.

Genetic advances in sarcomeric cardiomyopathies: state of the art.

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A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies Novel myosin-based therapies for congenital cardiac and skeletal myopathies The embryological basis of subclinical hypertrophic cardiomyopathy Research priorities in sarcomeric cardiomyopathies Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype Recent advances in genetic testing and counseling for inherited arrhythmias Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Epigallocatechin-3-Gallate Accelerates Relaxation and Ca2+ Transient Decay and Desensitizes Myofilaments in Healthy and Mybpc3-Targeted Knock-in Cardiomyopathic Mice.Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.Current perspectives in hypertrophic cardiomyopathy with the focus on patients in the Finnish population: a review.Genetic Variation in Cardiomyopathy and Cardiovascular Disorders.Rapid large-scale purification of myofilament proteins using a cleavable His6-tag.Comprehensive maternal serum proteomics identifies the cytoskeletal proteins as non-invasive biomarkers in prenatal diagnosis of congenital heart defects Downregulation of GSTK1 Is a Common Mechanism Underlying Hypertrophic Cardiomyopathy.The Case of "Missing Causal Genes" and the Practice of Medicine: A Sherlock Holmes Approach of Deductive Reasoning.A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy 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.Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.The fractal heart - embracing mathematics in the cardiology clinic Alterations in sarcomere function modify the hyperplastic to hypertrophic transition phase of mammalian cardiomyocyte development.Defining phenotypes and disease progression in sarcomeric cardiomyopathies: contemporary role of clinical investigations.Current applications of biomarkers in cardiomyopathies.The cMyBP-C HCM variant L348P enhances thin filament activation through an increased shift in tropomyosin position.Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.I-1-deficiency negatively impacts survival in a cardiomyopathy mouse model.Preventing pediatric cardiomyopathy: a 2015 outlook.Genetics of hypertrophic cardiomyopathy: A review of current state.Contribution of Post-translational Phosphorylation to Sarcomere-Linked Cardiomyopathy Phenotypes.Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders.Overview of the Muscle Cytoskeleton.Commentary: Epigenetic Regulation of Phosphodiesterases 2A and 3A Underlies Compromised β-Adrenergic Signaling in an iPSC Model of Dilated Cardiomyopathy.Nebivolol Desensitizes Myofilaments of a Hypertrophic Cardiomyopathy Mouse Model.Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models.Life-long tailoring of management for patients with hypertrophic cardiomyopathy : Awareness and decision-making in changing scenarios.Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients.Next generation sequencing applications for cardiovascular disease.Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy.Ranolazine antagonizes catecholamine-induced dysfunction in isolated cardiomyocytes, but lacks long-term therapeutic effects in vivo in a mouse model of hypertrophic cardiomyopathy.

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Genetic advances in sarcomeric cardiomyopathies: state of the art.

http://www.wikidata.org/entity/Q35145962

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2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2015 թվականի ապրիլին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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Genetic advances in sarcomeric cardiomyopathies: state of the art.

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Genetic advances in sarcomeric cardiomyopathies: state of the art.

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Genetic advances in sarcomeric cardiomyopathies: state of the art.

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Genetic advances in sarcomeric cardiomyopathies: state of the art.

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Genetic advances in sarcomeric cardiomyopathies: state of the art.

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Genetic advances in sarcomeric cardiomyopathies: state of the art.

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Genetic advances in sarcomeric cardiomyopathies: state of the art.

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Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations

Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

A method and server for predicting damaging missense mutations

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

Next-generation sequencing: from basic research to diagnostics

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

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