Associated Papers
Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents.
Karpicheva OE et al.
International Journal of Molecular Sciences, 2023
A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.
McAdow J et al.
Jci Insight, 2022
Molecular Mechanisms of the Deregulation of Muscle Contraction Induced by the R90P Mutation in Tpm3.12 and the Weakening of This Effect by BDM and W7.
Borovikov YS et al.
International Journal of Molecular Sciences, 2021
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
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
Savarese M et al.
Acta Neuropathologica Communications, 2014
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
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.
Marston S et al.
Human Molecular Genetics, 2013
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