Seto JT - Search Results

1

Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy.

Blondelle J, Tallapaka K, Seto JT, Ghassemian M, Clark M, Laitila JM, Bournazos A, Singer JD, Lange S. Blondelle J, et al. Among authors: seto jt. JCI Insight. 2019 Apr 16;5(10):e125665. doi: 10.1172/jci.insight.125665. JCI Insight. 2019. PMID: 30990797 Free PMC article.

2

A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse.

Chan S, Seto JT, MacArthur DG, Yang N, North KN, Head SI. Chan S, et al. Among authors: seto jt. Am J Physiol Cell Physiol. 2008 Oct;295(4):C897-904. doi: 10.1152/ajpcell.00179.2008. Epub 2008 Jul 23. Am J Physiol Cell Physiol. 2008. PMID: 18650267 Free article.

3

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.

MacArthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, Lemckert FA, Kee AJ, Edwards MR, Berman Y, Hardeman EC, Gunning PW, Easteal S, Yang N, North KN. MacArthur DG, et al. Among authors: seto jt. Nat Genet. 2007 Oct;39(10):1261-5. doi: 10.1038/ng2122. Epub 2007 Sep 9. Nat Genet. 2007. PMID: 17828264

4

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN. Compton AG, et al. Among authors: seto jt. Am J Hum Genet. 2008 Dec;83(6):714-24. doi: 10.1016/j.ajhg.2008.10.022. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026398 Free PMC article.

5

An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance.

MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN. MacArthur DG, et al. Among authors: seto jt. Hum Mol Genet. 2008 Apr 15;17(8):1076-86. doi: 10.1093/hmg/ddm380. Epub 2008 Jan 4. Hum Mol Genet. 2008. PMID: 18178581

6

Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.

Quinlan KG, Seto JT, Turner N, Vandebrouck A, Floetenmeyer M, Macarthur DG, Raftery JM, Lek M, Yang N, Parton RG, Cooney GJ, North KN. Quinlan KG, et al. Among authors: seto jt. Hum Mol Genet. 2010 Apr 1;19(7):1335-46. doi: 10.1093/hmg/ddq010. Epub 2010 Jan 20. Hum Mol Genet. 2010. PMID: 20089531

7

Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice.

Chan S, Seto JT, Houweling PJ, Yang N, North KN, Head SI. Chan S, et al. Among authors: seto jt. Muscle Nerve. 2011 Jan;43(1):37-48. doi: 10.1002/mus.21778. Epub 2010 Sep 30. Muscle Nerve. 2011. PMID: 20886650

8

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.

Hogarth MW, Garton FC, Houweling PJ, Tukiainen T, Lek M, Macarthur DG, Seto JT, Quinlan KG, Yang N, Head SI, North KN. Hogarth MW, et al. Among authors: seto jt. Hum Mol Genet. 2016 Mar 1;25(5):866-77. doi: 10.1093/hmg/ddv613. Epub 2015 Dec 17. Hum Mol Genet. 2016. PMID: 26681802 Free PMC article.

9

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.

Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN. Lo HP, et al. Among authors: seto jt. Neuromuscul Disord. 2008 Jan;18(1):34-44. doi: 10.1016/j.nmd.2007.08.009. Epub 2007 Sep 25. Neuromuscul Disord. 2008. PMID: 17897828

10

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.

Seto JT, Lek M, Quinlan KG, Houweling PJ, Zheng XF, Garton F, MacArthur DG, Raftery JM, Garvey SM, Hauser MA, Yang N, Head SI, North KN. Seto JT, et al. Hum Mol Genet. 2011 Aug 1;20(15):2914-27. doi: 10.1093/hmg/ddr196. Epub 2011 May 2. Hum Mol Genet. 2011. PMID: 21536590

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