Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

scientific article

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/EURHEARTJ/EHM239
P3181OpenCitations bibliographic resource ID2722507
P698PubMed publication ID17611253
P5875ResearchGate publication ID6227019

P50authorLorenzo MonserratQ42794375
Laura CazónQ55691868
Xusto FernandezQ55691870
P2093author name stringAlfonso Castro-Beiras
Carlos Gonzalez-Juanatey
Isabel Rodríguez
Jesús Peteiro
Manuel Hermida-Prieto
Laura Cazón
Nemesio Alvarez
Manuel Penas-Lado
Carlos Dumont
Margarita G Cuesta
P433issue16
P407language of work or nameEnglishQ1860
P921main subjectheart contractionQ5165683
Actin alpha cardiac muscle 1Q21096423
hypertrophic cardiomyopathyQ1364270
P304page(s)1953-61
P577publication date2007-08-01
P1433published inEuropean Heart JournalQ2286839
P1476titleMutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects
P478volume28

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cites work (P2860)
Q35659446A 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 Defects
Q41687674A One Health Approach to Hypertrophic Cardiomyopathy
Q60908715A case of hypertrophic cardiomyopathy combined with muscular ventricular septal defect and abnormal origin of right coronary artery
Q43834775A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction
Q47551449A mutant HCN4 channel in a family with bradycardia, left bundle branch block, and left ventricular noncompaction
Q33625478A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias.
Q36606848A rare form of cardiomyopathy: left ventricular non-compaction cardiomyopathy
Q50194792Age- and strain-related aberrant Ca2+ release is associated with sudden cardiac death in the ACTC E99K mouse model of hypertrophic cardiomyopathy.
Q41126629An interesting case of cryptogenic stroke in a young man due to left ventricular non-compaction: role of cardiac MRI in the accurate diagnosis
Q38832827Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.
Q33160311Apical hypertrophic cardiomyopathy presenting as recurrent unexplained syncope
Q51104484Can hypertrophic cardiomyopathy and non compaction left ventricle coexist in a single patient?
Q81971989Cardiac MRI and CT features of inheritable and congenital conditions associated with sudden cardiac death
Q41840164Cardiac MRI in a patient with coincident left ventricular non-compaction and hypertrophic cardiomyopathy.
Q21134934Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects
Q37382053Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction
Q55028925Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.
Q64897998Congenital Heart Disease and Risk of Cardiovascular Disease: A Meta-Analysis of Cohort Studies.
Q35226745Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes.
Q92543550Data on the role of cardiac α-actin (ACTC1) gene mutations on SRF-signaling
Q48035287Developmental origins of hypertrophic cardiomyopathy phenotypes: a unifying hypothesis
Q39453560Diagnostic uncertainties and future perspectives in noncompaction cardiomyopathy.
Q38851012Do cardiac actin mutations lead to altered actomyosin interactions?
Q36374563E101K and M123V alpha-cardiac actin gene mutations are not associated with cardiomyopathy in Iranian population
Q38116488Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
Q36627307Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.
Q33763883Echocardiography in patients with hypertrophic cardiomyopathy: usefulness of old and new techniques in the diagnosis and pathophysiological assessment
Q35250149Foramen ovale closure is a process of endothelial-to-mesenchymal transition leading to fibrosis
Q41989876Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics
Q47696386Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy
Q84713334Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy
Q37766140Genetic evaluation of familial cardiomyopathy
Q26862793Genetics of congenital heart disease: the glass half empty
Q38736063Genetics of hypertrophic cardiomyopathy: A review of current state
Q64993125Heart Failure Secondary to Left Ventricular Non-compaction Cardiomyopathy in a 26-Year-Old Male.
Q30235239Heart Failure in Pediatric Patients With Congenital Heart Disease
Q93140938Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies
Q85237807Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death
Q34089404Identification of dysfunctional modules and disease genes in congenital heart disease by a network-based approach
Q33578724Inhibition of Cardiac Hypertrophy Effects in D-Galactose-Induced Senescent Hearts by Alpinate Oxyphyllae Fructus Treatment
Q38191504Insights into the effects of disease-causing mutations in human actins
Q39654079Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human Heart
Q58577756Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits
Q26801385Isolated Noncompaction of the Left Ventricle in Adults
Q37005359Isolated left ventricular noncompaction causing stroke in a 30-year-old woman: case report and literature review
Q37729857Isolated non-compaction cardiomyopathy
Q45387084Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis
Q35176657Knockdown of embryonic myosin heavy chain reveals an essential role in the morphology and function of the developing heart
Q30659017Knockout of SRC-1 and SRC-3 in Mice Decreases Cardiomyocyte Proliferation and Causes a Noncompaction Cardiomyopathy Phenotype
Q34351258Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants
Q42028699Left ventricular non-compaction -challenges and controversies
Q37834124Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?
Q34543779MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death
Q37714017Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes.
Q37675919Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond
Q38547817Molecular genetics and pathogenesis of cardiomyopathy
Q33696535Molecular genetics of congenital atrial septal defects
Q35144972Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse
Q36175406Myocardial infarction in a patient with left ventricular noncompaction: a case report.
Q38088719New clinical molecular diagnostic methods for congenital and inherited heart disease
Q90057613New insights provided by myofibril mechanics in inherited cardiomyopathies
Q38314863Non-compact cardiomyopathy or ventricular non-compact syndrome?
Q50027857Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.
Q38758843Population Study Confirms Serum Proteins' Change and Reveals Diagnostic Values in Congenital Ventricular Septal Defect.
Q91710630Pressure Overload Is Associated With Low Levels of Troponin I and Myosin Binding Protein C Phosphorylation in the Hearts of Patients With Aortic Stenosis
Q36543753Rapid nucleotide exchange renders Asp-11 mutant actins resistant to depolymerizing activity of cofilin, leading to dominant toxicity in vivo
Q24304096Reduced ACTC1 Expression Might Play a Role in the Onset of Congenital Heart Disease by Inducing Cardiomyocyte Apoptosis
Q37608582Role of the sarcomeric Z-disc in the pathogenesis of cardiomyopathy
Q35845452The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance
Q52783545The immediate effect of HCM causing actin mutants E99K and A230V on actin-Tm-myosin interaction in thin-filament reconstituted myocardium.
Q37766174The many faces of hypertrophic cardiomyopathy: from developmental biology to clinical practice
Q38019645The pathogenesis of atrial and atrioventricular septal defects with special emphasis on the role of the dorsal mesenchymal protrusion
Q36706653The pathogenicity of genetic variants previously associated with left ventricular non-compaction
Q33717809Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects
Q51173667Two hundred eight patients with apical hypertrophic cardiomyopathy in china: clinical feature, prognosis, and comparison of pure and mixed forms.
Q38998926Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P
Q34122133Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier
Q83250022[Update on clinical cardiology: aortic diseases, hypertrophic cardiomyopathy, and prophylaxis of infective endocarditis]
Q24298075α-cardiac actin mutations produce atrial septal defects
Q28288720α-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects

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