Chung WK - Search Results

1

Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice.

Casini S, Albesa M, Wang Z, Portero V, Ross-Kaschitza D, Rougier JS, Marchal GA, Chung WK, Bezzina CR, Abriel H, Remme CA. Casini S, et al. Among authors: chung wk. Int J Mol Sci. 2019 Oct 11;20(20):5033. doi: 10.3390/ijms20205033. Int J Mol Sci. 2019. PMID: 31614475 Free PMC article.

2

Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age.

Silver ES, Liberman L, Chung WK, Spotnitz HM, Chen JM, Ackerman MJ, Moir C, Hordof AJ, Pass RH. Silver ES, et al. Among authors: chung wk. J Interv Card Electrophysiol. 2009 Oct;26(1):41-5. doi: 10.1007/s10840-009-9428-1. Epub 2009 Aug 11. J Interv Card Electrophysiol. 2009. PMID: 19669871 Free PMC article.

3

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Lieve KV, Williams L, Daly A, Richard G, Bale S, Macaya D, Chung WK. Lieve KV, et al. Among authors: chung wk. Genet Test Mol Biomarkers. 2013 Jul;17(7):553-61. doi: 10.1089/gtmb.2012.0118. Epub 2013 Apr 30. Genet Test Mol Biomarkers. 2013. PMID: 23631430

4

A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences.

Bankston JR, Sampson KJ, Kateriya S, Glaaser IW, Malito DL, Chung WK, Kass RS. Bankston JR, et al. Among authors: chung wk. Channels (Austin). 2007 Jul-Aug;1(4):273-80. doi: 10.4161/chan.4956. Epub 2007 Aug 31. Channels (Austin). 2007. PMID: 18708744 Free article.

5

Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics.

Terrenoire C, Wang K, Tung KW, Chung WK, Pass RH, Lu JT, Jean JC, Omari A, Sampson KJ, Kotton DN, Keller G, Kass RS. Terrenoire C, et al. Among authors: chung wk. J Gen Physiol. 2013 Jan;141(1):61-72. doi: 10.1085/jgp.201210899. J Gen Physiol. 2013. PMID: 23277474 Free PMC article.

6

Intragenic deletion as a novel type of mutation in Wolman disease.

Lee TM, Welsh M, Benhamed S, Chung WK. Lee TM, et al. Among authors: chung wk. Mol Genet Metab. 2011 Dec;104(4):703-5. doi: 10.1016/j.ymgme.2011.09.006. Epub 2011 Sep 14. Mol Genet Metab. 2011. PMID: 21963785 Free PMC article.

7

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.

Hirsch Y, Chung WK, Novoselov S, Weimer LH, Rossor A, LeDuc CA, McPartland AJ, Cabrera E, Ekstein J, Scher S, Nelson RF, Schiavo G, Henderson LB, Booth KTA. Hirsch Y, et al. Among authors: chung wk. Int J Mol Sci. 2023 May 17;24(10):8897. doi: 10.3390/ijms24108897. Int J Mol Sci. 2023. PMID: 37240244 Free PMC article.

8

The mouse mahoganoid coat color mutation disrupts a novel C3HC4 RING domain protein.

Phan LK, Lin F, LeDuc CA, Chung WK, Leibel RL. Phan LK, et al. Among authors: chung wk. J Clin Invest. 2002 Nov;110(10):1449-59. doi: 10.1172/JCI16131. J Clin Invest. 2002. PMID: 12438443 Free PMC article.

9

The mahoganoid mutation (Mgrn1md) improves insulin sensitivity in mice with mutations in the melanocortin signaling pathway independently of effects on adiposity.

Phan LK, Chung WK, Leibel RL. Phan LK, et al. Among authors: chung wk. Am J Physiol Endocrinol Metab. 2006 Sep;291(3):E611-20. doi: 10.1152/ajpendo.00034.2006. Epub 2006 Apr 25. Am J Physiol Endocrinol Metab. 2006. PMID: 16638826 Free article.

10

Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death.

Chung WK, Kitner C, Maron BJ. Chung WK, et al. Cardiol Young. 2011 Jun;21(3):345-8. doi: 10.1017/S1047951110001927. Epub 2011 Jan 25. Cardiol Young. 2011. PMID: 21262074

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