Associated Papers
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
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
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
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
Robinson P et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2007
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
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
Sung SS et al.
American Journal of Human Genetics, 2003
A TNNI2 mutation in a family with distal arthrogryposis type 2B.
Shrimpton AE et al.
European Journal of Medical Genetics, 0