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
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
Smad4 SUMOylation is essential for memory formation through upregulation of the skeletal myopathy gene TPM2.
Hsu WL et al.
Bmc Biology, 2017
29183317 (PubMed )
Supplement: 12915_2017_452_MOESM9_ESM.xls › ___2
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.
Mroczek M et al.
Journal of Applied Genetics, 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
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
Select a paper to view details