Associated Papers
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F et al.
Annals of Clinical and Translational Neurology, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
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
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 2022
A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.
McAdow J et al.
Jci Insight, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln147Pro Tropomyosin.
Karpicheva OE et al.
International Journal of Molecular Sciences, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
The molecular mechanism of muscle dysfunction associated with the R133W mutation in Tpm2.2.
Borovikov YS et al.
Biochemical and Biophysical Research Communications, 2020
Establishment of a human induced pluripotent stem cell line (SDQLCHi004-A) from a patient with nemaline myopathy-4 disease carrying heterozygous mutation in TPM2 gene.
Ma Y et al.
Stem Cell Research, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
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
Smad4 SUMOylation is essential for memory formation through upregulation of the skeletal myopathy gene TPM2.
Hsu WL et al.
Bmc Biology, 2017
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.
Racca AW et al.
Human Molecular Genetics, 2015
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.
Ravenscroft G et al.
Brain : a Journal of Neurology, 2015
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
The E117K mutation in β-tropomyosin disturbs concerted conformational changes of actomyosin in muscle fibers.
Karpicheva OE et al.
Archives of Biochemistry and Biophysics, 2014
First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.
Ko JM et al.
Journal of Korean Medical Science, 2013
Myopathies associated with β-tropomyosin mutations.
Tajsharghi H et al.
Neuromuscular Disorders : Nmd, 2012
Distal arthrogryposis: clinical and genetic findings.
Kimber E et al.
Acta Paediatrica (oslo, Norway : 1992), 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
Fetal akinesia: review of the genetics of the neuromuscular causes.
Ravenscroft G et al.
Journal of Medical Genetics, 2011
A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation.
Ochala J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.
Ochala J et al.
The Journal of Physiology, 2008
Beta-tropomyosin mutations alter tropomyosin isoform composition.
Nilsson J et al.
European Journal of Neurology, 2008
Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.
Ochala J et al.
The Journal of Physiology, 2007
Tropomyosin in the groove? Molecular insights into an inherited myopathy.
Chase PB
The Journal of Physiology, 2007
Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.
Tajsharghi H et al.
Neurology, 2007