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
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
Whole exome sequencing improves genetic diagnosis of fetal clubfoot.
Huang R et al.
Human Genetics, 2023
Diagnostic yield of exome sequencing in congenital vertical talus.
Tayebi N et al.
European Journal of Medical Genetics, 2022
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.
Nishimori Y et al.
Neurology. Genetics, 2022
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M et al.
Genes, 2021
35052370 (PubMed )
Supplement: genes-13-00029-s001.zip › genes-1508372-Sup_update › Table_S1.pdf
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
Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.
Clarke NF
Advances in Experimental Medicine and Biology, 2008
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.
Jiang M et al.
Prenatal Diagnosis, 2007
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