(Q37198630)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18574571%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

review article

1 reference

title

Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18574571%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18574571%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Julien Ochala

series ordinal

1

1 reference

18 August 2017

publication date

24 June 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18574571%20AND%20SRC:MED&resulttype=core&format=json

Journal of Molecular Medicine

9 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18574571%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

86

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18574571%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18574571%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

page(s)

1197-1204

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18574571%20AND%20SRC:MED&resulttype=core&format=json

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

9 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-008-0380-9

Tropomyosin coiled-coil interactions: Evidence for an unstaggered structure

21 January 2018

1 reference

12 December 2020

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2

1 reference

12 December 2020

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

1 reference

12 December 2020

Exchange of beta- for alpha-tropomyosin in hearts of transgenic mice induces changes in thin filament response to Ca2+, strong cross-bridge binding, and protein phosphorylation

1 reference

12 December 2020

Dual requirement for flexibility and specificity for binding of the coiled-coil tropomyosin to its target, actin

1 reference

12 December 2020

A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study

1 reference

12 December 2020

Effect of Ca2+ on cross-bridge turnover kinetics in skinned single rabbit psoas fibers: implications for regulation of muscle contraction

1 reference

12 December 2020

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

1 reference

12 December 2020

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

1 reference

12 December 2020

The pathogenesis of ACTA1-related congenital fiber type disproportion

1 reference

12 December 2020

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis

1 reference

12 December 2020

Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region

1 reference

12 December 2020

Functional consequences of hypertrophic and dilated cardiomyopathy-causing mutations in alpha-tropomyosin.

1 reference

12 December 2020

Regulation of contraction in striated muscle

1 reference

12 December 2020

Titin/connectin and nebulin: giant protein rulers of muscle structure and function

1 reference

12 December 2020

A nemaline myopathy mutation in alpha-tropomyosin causes defective regulation of striated muscle force production

1 reference

12 December 2020

Correlation between myofilament response to Ca2+ and altered dynamics of contraction and relaxation in transgenic cardiac cells that express beta-tropomyosin

1 reference

12 December 2020

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy

1 reference

12 December 2020

Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred

1 reference

12 December 2020

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

1 reference

12 December 2020

The troponin tail domain promotes a conformational state of the thin filament that suppresses myosin activity.

1 reference

12 December 2020

Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations

1 reference

12 December 2020

Architecture of the sarcomere matrix of skeletal muscle: immunoelectron microscopic evidence that suggests a set of parallel inextensible nebulin filaments anchored at the Z line

1 reference

12 December 2020

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

1 reference

12 December 2020

Actin mutations are one cause of congenital fibre type disproportion

1 reference

12 December 2020

Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres

1 reference

12 December 2020

Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy

1 reference

12 December 2020

Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies

1 reference

12 December 2020

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation

1 reference

12 December 2020

Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism

1 reference

12 December 2020

Local destabilization of the tropomyosin coiled coil gives the molecular flexibility required for actin binding

1 reference

12 December 2020

Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle

1 reference

12 December 2020

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

1 reference

12 December 2020

Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype

1 reference

12 December 2020

Role of tropomyosin isoforms in the calcium sensitivity of striated muscle thin filaments

1 reference

12 December 2020

Nemaline cardiomyopathy in a young adult: an ultraimmunohistochemical study and review of the literature.

1 reference

12 December 2020

Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period

1 reference

12 December 2020

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

1 reference

12 December 2020

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation

1 reference

12 December 2020

Nemaline myopathy caused by absence of alpha-skeletal muscle actin

1 reference

12 December 2020

Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments

1 reference

12 December 2020

Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy

1 reference

12 December 2020

The C terminus of cardiac troponin I is essential for full inhibitory activity and Ca2+ sensitivity of rat myofibrils

1 reference

12 December 2020

Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B

1 reference

12 December 2020

Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

1 reference

12 December 2020

Nebulin mutations in autosomal recessive nemaline myopathy: an update

1 reference

12 December 2020

Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.

1 reference

12 December 2020

Thin filament-mediated regulation of cardiac contraction

1 reference

12 December 2020

Mutations in TPM3 are a common cause of congenital fiber type disproportion

1 reference

12 December 2020

Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function

1 reference

12 December 2020

Folding properties of functional domains of tropomodulin

1 reference

12 December 2020

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

12 December 2020

The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments.

1 reference

12 December 2020

Missense mutations of ACTA1 cause dominant congenital myopathy with cores

1 reference

12 December 2020

The distal arthrogryposes: a new classification of peripheral contractures.

1 reference

12 December 2020

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

1 reference

12 December 2020

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1

1 reference

12 December 2020

Deciphering the design of the tropomyosin molecule

1 reference

12 December 2020

Regulation of the interaction between actin and myosin subfragment 1: evidence for three states of the thin filament

1 reference

12 December 2020

E93K charge reversal on actin perturbs steric regulation of thin filaments

1 reference

12 December 2020

Distal myopathy caused by homozygous missense mutations in the nebulin gene

1 reference

12 December 2020

Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

1 reference

12 December 2020

Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods

1 reference

12 December 2020

A TNNI2 mutation in a family with distal arthrogryposis type 2B.

1 reference

12 December 2020

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

12 December 2020

A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression

1 reference

12 December 2020

Crossbridge and tropomyosin positions observed in native, interacting thick and thin filaments

1 reference

12 December 2020

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2)

1 reference

12 December 2020

Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods

1 reference

12 December 2020

Beta-tropomyosin mutations alter tropomyosin isoform composition

1 reference

12 December 2020

Tropomodulin caps the pointed ends of actin filaments

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12 December 2020

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

1 reference

12 December 2020

Ca2+- and S1-induced conformational changes of reconstituted skeletal muscle thin filaments observed by fluorescence energy transfer spectroscopy: structural evidence for three States of thin filament

1 reference

12 December 2020

Actin filaments form the backbone of nemaline myopathy rods

1 reference

12 December 2020

10.1007/S00109-008-0380-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18574571%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference