Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
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Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy.Research priorities in sarcomeric cardiomyopathiesThe A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency.Investigations into the Sarcomeric Protein and Ca2+-Regulation Abnormalities Underlying Hypertrophic Cardiomyopathy in Cats (Felix catus).Ablation of cardiac myosin binding protein-C disrupts the super-relaxed state of myosin in murine cardiomyocytes.Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.The genetic landscape of cardiomyopathy and its role in heart failure.An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy.MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.Deficient cMyBP-C protein expression during cardiomyocyte differentiation underlies human hypertrophic cardiomyopathy cellular phenotypes in disease specific human ES cell derived cardiomyocytes.Contractility parameters of human β-cardiac myosin with the hypertrophic cardiomyopathy mutation R403Q show loss of motor function.Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.The myosin mesa and the basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.Impact of Demographic Features, Lifestyle, and Comorbidities on the Clinical Expression of Hypertrophic Cardiomyopathy.Essential light chain S195 phosphorylation is required for cardiac adaptation under physical stress.
P2860
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P2860
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
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2014 nî lūn-bûn
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2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
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2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
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name
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
@ast
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
@en
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
@nl
type
label
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
@ast
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
@en
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
@nl
prefLabel
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
@ast
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
@en
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
@nl
P2093
P2860
P50
P1476
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy
@en
P2093
David Coleman
Ellen Pedersen
Frank M Davis
Jaime M Yob
Mark W Russell
Richard Jones
Robert Lyons
Sharlene M Day
P2860
P304
P356
10.1161/CIRCGENETICS.113.000448
P577
2014-07-16T00:00:00Z