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
TNNI1 Mutated in Autosomal Dominant Proximal Arthrogryposis.
Nishimori Y et al.
Neurology. Genetics, 2022
A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.
Latypova X et al.
Genes, 2021
Hypoxia-inducible factor 3 biology: complexities and emerging themes.
Duan C
American Journal of Physiology. Cell Physiology, 2016
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
Amino Acid Changes at Arginine 204 of Troponin I Result in Increased Calcium Sensitivity of Force Development.
Nguyen S et al.
Frontiers in Physiology, 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
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li X et al.
Gene, 2013
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Beck AE et al.
American Journal of Medical Genetics. Part A, 2013
Distal arthrogryposis: clinical and genetic findings.
Kimber E et al.
Acta Paediatrica (oslo, Norway : 1992), 2012
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
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.
Jiang M et al.
Prenatal Diagnosis, 2007
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