Associated Papers
Myopathy-linked mutations in TPM2 and their impact on troponin-mediated regulation of actomyosin contractility.
Küçükdogru R et al.
The Febs Journal, 2025
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
Mechanochemical consequences of myopathy-linked mutations in Tpm2.2 on striated muscle contractility.
Küçükdogru R et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.
McAdow J et al.
Jci Insight, 2022
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
Myopathic mutations in the β-chain of tropomyosin differently affect the structural and functional properties of ββ- and αβ-dimers.
Bershitsky SY et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
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
Novel TPM3 mutation in a family with cap myopathy and review of the literature.
Schreckenbach T et al.
Neuromuscular Disorders : Nmd, 2014
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
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
Jarraya M et al.
Neuromuscular Disorders : Nmd, 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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