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Year Number of Results
2014 3
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2018 6
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TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
Wei B, Jin JP. Wei B, et al. Gene. 2016 May 10;582(1):1-13. doi: 10.1016/j.gene.2016.01.006. Epub 2016 Jan 13. Gene. 2016. PMID: 26774798 Free PMC article. Review.
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. Alternative splicing and posttranslational modifications confer a …
Three homologous genes have evolved in vertebrates to encode three muscle type-specific TnT isoforms: TNNT1 for slow skeletal muscle TnT, TN …
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M, Caraffi SG, Faccioli S, Rosato S, Fodstad H, Campos-Xavier B, Soncini E, Comitini G, Frattini D, Grimaldi T, Marinelli M, Martorana D, Percesepe A, Sassi S, Fusco C, Gargano G, Superti-Furga A, Garavelli L. Pollazzon M, et al. Genes (Basel). 2021 Dec 23;13(1):29. doi: 10.3390/genes13010029. Genes (Basel). 2021. PMID: 35052370 Free PMC article.
The phenotype of DA type 5D (DA5D) and Escobar syndrome became more characteristic at later ages due to more pronounced pterygia. Follow-up indicated that DA type 1 (DA1)/DA type 2B (DA2B) spectrum and LDS had a more favorable course than the other forms. ...
The phenotype of DA type 5D (DA5D) and Escobar syndrome became more characteristic at later ages due to more pronounced pterygia. Follow-up …
Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
Wang WB, Kong LC, Zuo RT, Kang QL. Wang WB, et al. Mol Med Rep. 2020 Jan;21(1):438-444. doi: 10.3892/mmr.2019.10820. Epub 2019 Nov 15. Mol Med Rep. 2020. PMID: 31746383
Distal arthrogryposis (DA) type 2B (DA2B) is an autosomal dominant congenital disorder, characterized by camptodactyly, thumb adduction, ulnar deviation and facial features, including small mouth, down-slanting palpebral fissure and slight nasolabial fold. ...Thus, the pre …
Distal arthrogryposis (DA) type 2B (DA2B) is an autosomal dominant congenital disorder, characterized by camptodactyly, thumb adducti …
Actin-Associated Gene Expression is Associated with Early Regional Metastasis of Tongue Cancer.
Lee DY, Kang Y, Im NR, Kim B, Kwon TK, Jung KY, Baek SK. Lee DY, et al. Laryngoscope. 2021 Apr;131(4):813-819. doi: 10.1002/lary.29025. Epub 2020 Aug 15. Laryngoscope. 2021. PMID: 33237593
Gene ontology and pathway enrichment analysis revealed that most of the upregulated genes were associated with actin cytoskeleton and included following genes: ANKRD23, NO3, PDLIM3, MUSTN1, TNNT3, MYBPC1, MB, MYH3, TTN, ACTA1, and ACTC1. When comparing tongue cancer with c …
Gene ontology and pathway enrichment analysis revealed that most of the upregulated genes were associated with actin cytoskeleton and includ …
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST. Sandaradura SA, et al. Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13. Hum Mutat. 2018. PMID: 29266598 Free PMC article.
A neuromuscular gene panel identified a homozygous essential splice variant in TNNT3 (chr11:1956150G > A, NM_006757.3:c.681+1G > A). TNNT3 encodes skeletal troponin-T(fast) and is associated with autosomal dominant distal arthrogryposis. ...Western blot showed …
A neuromuscular gene panel identified a homozygous essential splice variant in TNNT3 (chr11:1956150G > A, NM_006757.3:c.681+1G &gt …
Silicone Breast Implant Surface Texture Impacts Gene Expression in Periprosthetic Fibrous Capsules.
Daneshgaran G, Gardner DJ, Chen HA, Niknam-Bienia S, Soundararajan V, Raghuram AC, Kim GH, Labaj P, Kreil DP, Wang C, Hong YK, Wong AK. Daneshgaran G, et al. Plast Reconstr Surg. 2023 Jan 1;151(1):85-95. doi: 10.1097/PRS.0000000000009800. Epub 2022 Oct 7. Plast Reconstr Surg. 2023. PMID: 36205692
RESULTS: Of 18,555 differentially expressed transcripts identified, three candidate genes were selected: matrix metalloproteinase-3 ( MMP3 ), troponin-T3 ( TNNT3 ), and neuregulin-1 ( NRG1 ). In textured capsules, relative gene expression and immunostaining of MMP3 and …
RESULTS: Of 18,555 differentially expressed transcripts identified, three candidate genes were selected: matrix metalloproteinase-3 ( MMP3 ) …
Identification of Potential Biomarkers for Ryanodine Receptor 1 (RYR1) Mutation-Associated Myopathies Using Bioinformatics Approach.
Wang X, Kong C, Liu P, Geng W, Tang H. Wang X, et al. Dis Markers. 2022 May 23;2022:8787782. doi: 10.1155/2022/8787782. eCollection 2022. Dis Markers. 2022. PMID: 35692882 Free PMC article.
Four hub genes were specifically expressed in skeletal muscle tissue, including MYH1 (AUC: 0.856), TNNT3 (AUC: 0.840), MYLPF (AUC: 0.786), and ATP2A1 (AUC: 0.765). ...CONCLUSIONS: Four skeletal muscle tissue-specific genes were identified, including MYH1, TNNT3, MYL …
Four hub genes were specifically expressed in skeletal muscle tissue, including MYH1 (AUC: 0.856), TNNT3 (AUC: 0.840), MYLPF (AUC: 0. …
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. Lu J, et al. J Clin Lab Anal. 2021 Dec;35(12):e24089. doi: 10.1002/jcla.24089. Epub 2021 Nov 11. J Clin Lab Anal. 2021. PMID: 34766372 Free PMC article.
BACKGROUND: Distal arthrogryposis (DA) is comprised of a group of rare developmental disorders in muscle, characterized by multiple congenital contractures of the distal limbs. Fast skeletal muscle troponin-T (TNNT3) protein is abundantly …
BACKGROUND: Distal arthrogryposis (DA) is comprised of a group of rare developmental disorders in muscle, characterized by multiple congenit …
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
Seyama R, Uchiyama Y, Kaneshi Y, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Okamoto N, Matsumoto N. Seyama R, et al. J Hum Genet. 2023 May;68(5):363-367. doi: 10.1038/s10038-022-01117-x. Epub 2023 Jan 12. J Hum Genet. 2023. PMID: 36631501
Exome sequencing identified a causative variant in TNNI2 [NM_003282.4:c.532T>C p.(Phe178Leu)] in a Japanese girl with typical DA2b. Interestingly, the familial study using Sanger sequencing suggested a mosaic variant in her healthy father. ...
Exome sequencing identified a causative variant in TNNI2 [NM_003282.4:c.532T>C p.(Phe178Leu)] in a Japanese girl with typical DA2b
Digitotalar dysmorphism: Molecular elucidation.
Vorster AA, Beighton P, Ramesar RS. Vorster AA, et al. S Afr Med J. 2016 Feb 2;106(3):253-5. doi: 10.7196/SAMJ.2016.v106i3.10134. S Afr Med J. 2016. PMID: 26915936
Analysis of the nine genes that had previously been shown to cause DAs revealed a pathogenic mutation in exon nine of TNNT3. The presence of the p.(Arg63His) missense mutation at position 63 of TNNT3 was confirmed through direct cycle sequencing of genomic DNA in si …
Analysis of the nine genes that had previously been shown to cause DAs revealed a pathogenic mutation in exon nine of TNNT3. The pres …
25 results