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Loss of Function Mutations in NNT Are Associated With Left Ventricular NoncompactionLong term ablation of protein kinase A (PKA)-mediated cardiac troponin I phosphorylation leads to excitation-contraction uncoupling and diastolic dysfunction in a knock-in mouse model of hypertrophic cardiomyopathyThe cardiac-specific N-terminal region of troponin I positions the regulatory domain of troponin CIn the thick of it: HCM-causing mutations in myosin binding proteins of the thick filamentThin filament mutations: developing an integrative approach to a complex disorderEvaluation of subtle left ventricular systolic abnormalities in adult patients with hypertrophic cardiomyopathy.Hypertrophic cardiomyopathy and sudden cardiac deathApical hypertrophic cardiomyopathy presenting as recurrent unexplained syncope.Apical hypertrophic cardiomyopathy.Apical hypertrophic cardiomyopathy with hemodynamically unstable ventricular arrhythmia - Atypical presentation.An Uncommon Variant of an Uncommon Disease: A Caucasian Adolescent with Apical Hypertrophic Cardiomyopathy Diagnosed with Myocardial Perfusion Imaging.Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic CardiomyopathyA rare case of apical hypertrophic cardiomyopathy (AHCM).New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy.The role of the N-terminus of the myosin essential light chain in cardiac muscle contraction.Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.Alternative exon 9-encoded relay domains affect more than one communication pathway in the Drosophila myosin headApplication of Next Generation Sequencing for personalized medicine for sudden cardiac death.Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.Survival and clinical behavior of hypertrophic cardiomyopathy in a latin american cohort in contrast to cohorts from the developed world.The R21C Mutation in Cardiac Troponin I Imposes Differences in Contractile Force Generation between the Left and Right Ventricles of Knock-In MiceA Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline DefectsGeneration and functional characterization of knock-in mice harboring the cardiac troponin I-R21C mutation associated with hypertrophic cardiomyopathy.Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial CardiomyopathyThe diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance.Relationship between Regional Fat Distribution and Hypertrophic Cardiomyopathy PhenotypeTroponin I Mutations R146G and R21C Alter Cardiac Troponin Function, Contractile Properties, and Modulation by Protein Kinase A (PKA)-mediated Phosphorylation.Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome SequencingA Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION.Role of the acidic N' region of cardiac troponin I in regulating myocardial function.Molecular evolution of troponin I and a role of its N-terminal extension in nematode locomotion.Structural basis for drug-induced allosteric changes to human β-cardiac myosin motor activityApical hypertrophic cardiomyopathy mimicking acute coronary syndrome: a case report and review of the literature.Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutationsApical hypertrophic cardiomyopathy in association with pulmonary artery hypertension.Role of the sarcomeric Z-disc in the pathogenesis of cardiomyopathy.Apical Hypertrophic Cardiomyopathy Among Non-Asians: A Case Series and Review of the Literature.Nuclear cardiac imaging in hypertrophic cardiomyopathy.Heavy and light roles: myosin in the morphogenesis of the heart.
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Gene mutations in apical hypertrophic cardiomyopathy
@ast
Gene mutations in apical hypertrophic cardiomyopathy
@en
Gene mutations in apical hypertrophic cardiomyopathy
@nl
type
label
Gene mutations in apical hypertrophic cardiomyopathy
@ast
Gene mutations in apical hypertrophic cardiomyopathy
@en
Gene mutations in apical hypertrophic cardiomyopathy
@nl
prefLabel
Gene mutations in apical hypertrophic cardiomyopathy
@ast
Gene mutations in apical hypertrophic cardiomyopathy
@en
Gene mutations in apical hypertrophic cardiomyopathy
@nl
P2093
P3181
P1433
P1476
Gene mutations in apical hypertrophic cardiomyopathy
@en
P2093
Ahmad Karim
Barry J Maron
Christine E Seidman
J G Seidman
Manual Penas-Lado
Mark Sherrid
Michael Arad
Mitsohiro Kamisago
Scott Barr
Timothy M Olson
P304
P3181
P356
10.1161/CIRCULATIONAHA.105.547448
P407
P577
2005-11-01T00:00:00Z