Associated Papers
Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model.
Feng HZ et al.
The Febs Journal, 2025
A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.
Laarne M et al.
Journal of Neuromuscular Diseases, 2025
Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility.
Laitila J et al.
The Journal of Physiology, 2025
Integrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle study.
Seaborne RAE et al.
The Journal of Physiology, 2025
A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del).
Yavaş C et al.
Genes & Genomics, 2024
Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy.
Wang G et al.
Journal of Human Genetics, 2023
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings.
Zambon AA et al.
Neuromuscular Disorders : Nmd, 2022
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Géraud J et al.
Journal of Medical Genetics, 2021
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R et al.
Genes, 2021
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child.
Streff H et al.
European Journal of Medical Genetics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Nemaline myopathies: a current view.
Sewry CA et al.
Journal of Muscle Research and Cell Motility, 2019
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Fox MD et al.
Human Molecular Genetics, 2018
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
Konersman CG et al.
Molecular Genetics & Genomic Medicine, 2017
Myopathology in congenital myopathies.
Sewry CA et al.
Neuropathology and Applied Neurobiology, 2017
TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
Wei B et al.
Gene, 2016
Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).
Abdulhaq UN et al.
Muscle & Nerve, 2016
Protein Structure-Function Relationship at Work: Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin T.
Mondal A et al.
Frontiers in Physiology, 2016
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
Marra JD et al.
Muscle & Nerve, 2015
Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree.
van der Pol WL et al.
Molecular Genetics & Genomic Medicine, 2014
The nemaline myopathy-causing E117K mutation in β-tropomyosin reduces thin filament activation.
Karpicheva OE et al.
Archives of Biochemistry and Biophysics, 2013
[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions].
Robaszkiewicz K et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2011
Cellular fate of truncated slow skeletal muscle troponin T produced by Glu180 nonsense mutation in amish nemaline myopathy.
Wang X et al.
The Journal of Biological Chemistry, 2005
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
Johnston JJ et al.
American Journal of Human Genetics, 2000