Associated Papers
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
Congenital myopathies: pathophysiological mechanisms and promising therapies.
Zhang H et al.
Journal of Translational Medicine, 2024
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Vogt J et al.
Clinical Genetics, 2020
Functional outcomes of structural peculiarities of striated muscle tropomyosin.
Kopylova GV et al.
Journal of Muscle Research and Cell Motility, 2020
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
Li S et al.
Bmc Medical Genetics, 2018
Deviations in conformational rearrangements of thin filaments and myosin caused by the Ala155Thr substitution in hydrophobic core of tropomyosin.
Karpicheva OE et al.
Biochimica Et Biophysica Acta. Proteins and Proteomics, 2017
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M et al.
Human Mutation, 2014
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.
Marttila M et al.
Skeletal Muscle, 2014
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Mokbel N et al.
Brain : a Journal of Neurology, 2013
Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.
Abdul-Hussein S et al.
Plos One, 2013
Myopathies associated with β-tropomyosin mutations.
Tajsharghi H et al.
Neuromuscular Disorders : Nmd, 2012
Mutations in TPM2 and congenital fibre type disproportion.
Clarke NF et al.
Neuromuscular Disorders : Nmd, 2012
Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.
Marttila M et al.
The Biochemical Journal, 2012
New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.
Ohlsson M et al.
Neurology, 2008
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