Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.

Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.

Item
http://www.wikidata.org/entity/Q33787873
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusA de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigsNovel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyEffects of pathogenic proline mutations on myosin assembly.Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.Almanac 2011: cardiomyopathies. The national society journals present selected research that has driven recent advances in clinical cardiology.Myosinopathies: pathology and mechanisms.Structural implications of β-cardiac myosin heavy chain mutations in human disease.Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes.A mutation in the beta-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype.Hormone replacement therapy improves contractile function and myonuclear organization of single muscle fibres from postmenopausal monozygotic female twin pairs.Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.
P2860

Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.

Item
http://www.wikidata.org/entity/Q33787873
description
2009 nî lūn-bûn
@nan
2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutations at the same amino ac ...... distinct molecular phenotypes.
@ast
Mutations at the same amino ac ...... distinct molecular phenotypes.
@en
type
label
Mutations at the same amino ac ...... distinct molecular phenotypes.
@ast
Mutations at the same amino ac ...... distinct molecular phenotypes.
@en
prefLabel
Mutations at the same amino ac ...... distinct molecular phenotypes.
@ast
Mutations at the same amino ac ...... distinct molecular phenotypes.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Mutations at the same amino ac ...... distinct molecular phenotypes.
@en
P2093
P2860
P304
P31
P356
10.1016/J.YJMCC.2009.10.011
P433
P478
P577
P5875
P698
P932