Associated Papers
Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.
Han D et al.
Animal Cells and Systems, 2025
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM3_ESM.xlsx › Table_S7_ResultsAllVariant
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
Seyama R et al.
Journal of Human Genetics, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.
Nishimori Y et al.
Neurology. Genetics, 2022
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.
Wang B et al.
American Journal of Medical Genetics. Part A, 2016
Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation.
Čulić V et al.
Human Genome Variation, 2016
A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.
Zhu X et al.
Plos Genetics, 2014
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Beck AE et al.
American Journal of Medical Genetics. Part A, 2013
Fetal akinesia: review of the genetics of the neuromuscular causes.
Ravenscroft G et al.
Journal of Medical Genetics, 2011
Thick and thin filament gene mutations in striated muscle diseases.
Tajsharghi H
International Journal of Molecular Sciences, 2008
Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.
Clarke NF
Advances in Experimental Medicine and Biology, 2008
Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.
Drera B et al.
Clinical Genetics, 2006
A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.
Jiang M et al.
Human Genetics, 2006
A TNNI2 mutation in a family with distal arthrogryposis type 2B.
Shrimpton AE et al.
European Journal of Medical Genetics, 0
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