Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin - Wikidata - awgldk - TriplyDB

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

http://www.wikidata.org/entity/Q28286640

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Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation A novel custom resequencing array for dilated cardiomyopathy Titin-based tension in the cardiac sarcomere: molecular origin and physiological adaptations Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy Telethonin deficiency is associated with maladaptation to biomechanical stress in the mammalian heart Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands The genetics of dilated cardiomyopathy: a prioritized candidate gene study of LMNA, TNNT2, TCAP, and PLN Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?Transcriptomic analysis of dystrophin RNAi knockdown reveals a central role for dystrophin in muscle differentiation and contractile apparatus organization.Mechano-signaling in heart failure Dynamic strength of titin's Z-disk end Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.Human muscle LIM protein dimerizes along the actin cytoskeleton and cross-links actin filaments MLP (muscle LIM protein) as a stress sensor in the heart.Deletion of Drosophila muscle LIM protein decreases flight muscle stiffness and power generation.High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort Drosophila melanogaster muscle LIM protein and alpha-actinin function together to stabilize muscle cytoarchitecture: a potential role for Mlp84B in actin-crosslinking.Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy The genomic architecture of sporadic heart failure Genetic advances in sarcomeric cardiomyopathies: state of the art.The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.Z-disc transcriptional coupling, sarcomeroptosis and mechanoptosis [corrected].Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy.Mechanisms of disease: hypertrophic cardiomyopathy.Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy.Transcriptional analysis of the titin cap gene.Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation.Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.A One Health Approach to Hypertrophic Cardiomyopathy.Genetic variations of α-cardiac actin and cardiac muscle LIM protein in hypertrophic cardiomyopathy in South India

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Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

http://www.wikidata.org/entity/Q28286640

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2006 nî lūn-bûn

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2006年の論文

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2006年論文

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Genotype-phenotype relationshi ...... le LIM protein, and telethonin

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Genotype-phenotype relationshi ...... le LIM protein, and telethonin

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Genotype-phenotype relationshi ...... le LIM protein, and telethonin

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Genotype-phenotype relationshi ...... le LIM protein, and telethonin

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Genotype-phenotype relationshi ...... le LIM protein, and telethonin

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Genotype-phenotype relationshi ...... le LIM protein, and telethonin

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Genotype-phenotype relationshi ...... le LIM protein, and telethonin

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Genotype-phenotype relationshi ...... le LIM protein, and telethonin

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J.YMGME.2005.10.008

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Molecular Genetics and Metabolism

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Genotype-phenotype relationshi ...... le LIM protein, and telethonin

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Bernard J Gersh

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David J Tester

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J Martijn Bos

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Matteo Vatta

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Melissa Ny

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Michael J Ackerman

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Rainer N Poley

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Steve R Ommen

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Xiaolei Xu

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P2860

Titin mutations as the molecular basis for dilated cardiomyopathy

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

Titins: giant proteins in charge of muscle ultrastructure and elasticity

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden

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10.1016/J.YMGME.2005.10.008

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1

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Jeffrey A Towbin

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