Citations for
1AMCD2B, MYH3, SHHS, SHHS2, TNNI2, TNNT3, TPM2
A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).
Xu Y, Kang QL, Zhang ZL.
Neuromuscul Disord 28(5):456-462. doi: 10.1016/j.nmd.2018.03.002. Epub 2018 Mar 8. 2018
2TNNT1, TNNT2, TNNT3
TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
Wei B, Jin JP.
Gene 582(1):1-13. doi: 10.1016/j.gene.2016.01.006. Epub 2016 Jan 13. Review. 2016
3FRG1, TNNT3
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).
Sancisi V, Germinario E, Esposito A, Morini E, Peron S, Moggio M, Tomelleri G, Danieli-Betto D, Tupler R.
Am J Physiol Regul Integr Comp Physiol 306(2):R124-37. doi: 10.1152/ajpregu.00379.2013. Epub 2013 Dec 4. 2014
4TNNT3
Troponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) mice.
Ju Y, Li J, Xie C, Ritchlin CT, Xing L, Hilton MJ, Schwarz EM.
Genesis 51(9):667-75. doi: 10.1002/dvg.22407. Epub 2013 Jul 9. 2013
5AMCD2B, TNNT3
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ.
Am J Med Genet A 161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7. 2013
6TNNT3
Nonmyofilament-associated troponin T3 nuclear and nucleolar localization sequence and leucine zipper domain mediate muscle cell apoptosis.
Zhang T, Birbrair A, Delbono O.
Cytoskeleton (Hoboken) 70(3):134-47. doi: 10.1002/cm.21095. Epub 2013 Feb 1. 2013
7TNNT3
Chronic coexistence of two troponin T isoforms in adult transgenic mouse cardiomyocytes decreased contractile kinetics and caused dilatative remodeling.
Yu ZB, Wei H, Jin JP.
Am J Physiol Cell Physiol 303(1):C24-32. doi: 10.1152/ajpcell.00026.2012. Epub 2012 Apr 25. 2012
8AMCD2B, TNNT3
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.
Eur J Med Genet 54(3):351-3. doi: 10.1016/j.ejmg.2011.03.002. Epub 2011 Mar 12. 2011
9TNNT3
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.
Clin Orthop Relat Res 467(5):1195-200. doi: 10.1007/s11999-008-0694-5. Epub 2009 Jan 14. 2009
10AMCD1, AMCD2B, TNNI2, TNNT3, TPM2
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
Robinson P, Lipscomb S, Preston LC, Altin E, Watkins H, Ashley CC, Redwood CS.
FASEB J 21(3):896-905. Epub 2006 Dec 27. 2007
11TNNT3, AMCD2B
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.
Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M.
Am J Hum Genet 73(1):212-4. No abstract available. 2003
12TNNT3
Structure and evolution of the alternatively spliced fast troponin T isoform gene.
Bucher EA, et al.
J Biol Chem 274(25):17661-70. 1999
13TNNI2, TNNT3
Localization of the fast skeletal muscle troponin I gene (TNNI2) to 11p15.5 : genes for troponin I and T are organized in pairs.
Barton PJR, et al.
Ann Hum Genet 61 : 519-523. 1997
14TNNT3
Assignment of the human fast skeletal troponin T gene (TNNT3) to chromosome 11p15.5 : evidence for the presence of 11pter in a monochromosome 9 somatic cell hybrid in NIGMS mapping panel 2.
Mao C, et al.
Genomics 31 : 385-388. 1996
15TNNT3
Isolation and characterization of human fast skeletal beta troponin T cDNA : comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family.
Wu QL, et al.
DNA Cell Biol 13 : 217-233. 1994