| The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3. | The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.
Lu J, Li H, Zhang H, Lin Z, Xu C, Xu X, Hu L, Luan Z, Lou Y, Tang S., Free PMC Article | 03/12/2022 |
| The TnT3 appears to contribute to age-related sarcopenia and possibly other age-related deficiencies such as muscle insulin resistance and beta cell dysfunction by interacting with TnT3-binding sequences in the promoter area of p53-related genes, among others, and consequently modulating the transcriptional regulation of these target genes. | Troponin T3 associates with DNA consensus sequence that overlaps with p53 binding motifs.
Nunez Lopez YO, Messi ML, Pratley RE, Zhang T, Delbono O., Free PMC Article | 05/4/2019 |
| Three homologous genes have evolved in vertebrates to encode three muscle type-specific TnT isoforms: TNNT1 for slow skeletal muscle TnT, TNNT2 for cardiac muscle TnT, and TNNT3 for fast skeletal muscle TnT. | TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
Wei B, Jin JP., Free PMC Article | 08/6/2016 |
| The presence of the p.(Arg63His) missense mutation at position 63 of TNNT3 was confirmed through direct cycle sequencing of genomic DNA in six affected South African family members for whom DNA had been archived. | Digitotalar dysmorphism: Molecular elucidation.
Vorster AA, Beighton P, Ramesar RS. | 07/16/2016 |
| Data show that a missense mutation at nucleotide position 187 in exon 9 of the TNNT3 gene was identified in all affected individuals in the family. | A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
Zhao N, Jiang M, Han W, Bian C, Li X, Huang F, Kong Q, Li J. | 10/1/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| TNNT3 and LDB3 showed abnormal splicing and appeared more pronounced in myotonic dystrophies type 2 relative to myotonic dystrophies type 1. | Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.
Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, Baggerly KA, Raheem O, Haapasalo H, Suominen T, Holmlund-Hampf J, Paetau A, Cardani R, Meola G, Kalimo H, Edström L, Krahe R, Udd B., Free PMC Article | 08/16/2010 |
| Myotonic dystrophy type 2 muscles exhibited a higher degree of alternative splicing dysregulation for fast TnT transcripts when compared to myotonic dystrophy type 1 muscles. | Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2).
Salvatori S, Furlan S, Fanin M, Picard A, Pastorello E, Romeo V, Trevisan CP, Angelini C. | 01/21/2010 |
| Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. | Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB, Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB., Free PMC Articles: PMC2664426, PMC2664426 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesMaternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB, Gurnett CA, Alaee F, Desruisseau D, Boehm S, Dobbs MB. | 02/11/2009 |
| These results indicate that the f peptide confers an inhibitory effect on the biological function of fast skeletal troponin T and this can be correlated with changes in the Ca2+ regulation associated with development in fast skeletal muscle. | Role of the fetal and alpha/beta exons in the function of fast skeletal troponin T isoforms: correlation with altered Ca2+ regulation associated with development.
Chaudhuri T, Mukherjea M, Sachdev S, Randall JD, Sarkar S. | 01/21/2010 |