| 1 | AMCD2B, 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
|
| 2 | TNNI1, TNNI2, TNNI3
|
| TNNI1, TNNI2 and TNNI3: Evolution, regulation, and protein structure-function relationships.
|
| Sheng JJ, Jin JP.
|
| Gene 576(1 Pt 3):385-94. doi: 10.1016/j.gene.2015.10.052. Review.
2016
|
| 3 | TNNC2, TNNI2, TNNT2
|
| Expression of the fast twitch troponin complex, fTnT, fTnI and fTnC, in vascular smooth muscle.
|
| Moran CM, Garriock RJ, Miller MK, Heimark RL, Gregorio CC, Krieg PA.
|
| Cell Motil Cytoskeleton 65(8):652-61. 2008
|
| 4 | AMCD1, 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
|
| 5 | TNNI2, AMCD2B
|
| Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.
|
| Drera B, Zoppi N, Barlati S, Colombi M.
|
| Clin Genet 70(6):532-4. No abstract available. 2006
|
| 6 | TNNI2, AMCD2B
|
| A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.
|
| Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M.
|
| Neurology 67(4):597-601. 2006
|
| 7 | AMCD2B, TNNI2
|
| A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression.
|
| Jiang M, Zhao X, Han W, Bian C, Li X, Wang G, Ao Y, Li Y, Yi D, Zhe Y, Lo WH, Zhang X, Li J.
|
| Hum Genet 120(2):238-42. Epub 2006 Jun 27.
2006
|
| 8 | TNNC2, TNNI2, TNNT2
|
| Structural basis for Ca2+-regulated muscle relaxation at interaction sites of troponin with actin and tropomyosin.
|
| Murakami K, Yumoto F, Ohki SY, Yasunaga T, Tanokura M, Wakabayashi T.
|
| J Mol Biol 352(1):178-201.
2005
|
| 9 | TRIM63, TNNi1, TNNI2
|
| Muscle-specific RING finger 1 is a bona fide ubiquitin ligase that degrades cardiac troponin I.
|
| Kedar V, McDonough H, Arya R, Li HH, Rockman HA, Patterson C.
|
| Proc Natl Acad Sci U S A 101(52):18135-40. Epub 2004 Dec 15. 2004
|
| 10 | AMCD1, AMCD2B, TNNI2, TPM2
|
| Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
|
| Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M.
|
| Am J Hum Genet 72(3):681-90. 2003
|
| 11 | PKD2L1, TNNI1, TNNI2
|
| Troponin I binds polycystin-L and inhibits its calcium-induced channel activation.
|
| Li Q, Liu Y, Shen PY, Dai XQ, Wang S, Smillie LB, Sandford R, Chen XZ.
|
| Biochemistry 42(24):7618-25. 2003
|
| 12 | TNNI2
|
| Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2).
|
| Mullen AJ, Barton PJ.
|
| Gene 242(1-2):313-20. 2000
|
| 13 | TNNC2, TNNI1, TNNI2, TPM1, TPM2
|
| Fine mapping of five human skeletal muscle genes : alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast.
|
| Tiso N, et al.
|
| Biochem Biophys Res Commun 230 : 347-350. 1997
|
| 14 | TNNI2, 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
|