Wang J - Search Results

1

Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis.

Droppelmann CA, Wang J, Campos-Melo D, Keller B, Volkening K, Hegele RA, Strong MJ. Droppelmann CA, et al. Among authors: wang j. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep;14(5-6):444-51. doi: 10.3109/21678421.2012.758288. Epub 2013 Jan 4. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23286752

2

Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia.

Wang J, Ban MR, Hegele RA. Wang J, et al. J Lipid Res. 2005 Feb;46(2):366-72. doi: 10.1194/jlr.D400030-JLR200. Epub 2004 Dec 1. J Lipid Res. 2005. PMID: 15576851 Free article.

3

Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).

Wang J, Hegele RA. Wang J, et al. Lipids Health Dis. 2007 Sep 20;6:23. doi: 10.1186/1476-511X-6-23. Lipids Health Dis. 2007. PMID: 17883852 Free PMC article.

4

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia.

Iacocca MA, Wang J, Dron JS, Robinson JF, McIntyre AD, Cao H, Hegele RA. Iacocca MA, et al. Among authors: wang j. J Lipid Res. 2017 Nov;58(11):2202-2209. doi: 10.1194/jlr.D079301. Epub 2017 Sep 5. J Lipid Res. 2017. PMID: 28874442 Free PMC article.

5

Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia.

Iacocca MA, Wang J, Sarkar S, Dron JS, Lagace T, McIntyre AD, Lau P, Robinson JF, Yang P, Knoll JH, Cao H, McPherson R, Hegele RA. Iacocca MA, et al. Among authors: wang j. Can J Cardiol. 2018 Oct;34(10):1316-1324. doi: 10.1016/j.cjca.2018.07.479. Epub 2018 Aug 4. Can J Cardiol. 2018. PMID: 30269829 Free article.

6

Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.

Volkening K, Farhan SMK, Kao J, Leystra-Lantz C, Ang LC, McIntyre A, Wang J, Hegele RA, Strong MJ. Volkening K, et al. Among authors: wang j. Mol Cell Biochem. 2021 Jul;476(7):2633-2650. doi: 10.1007/s11010-021-04103-7. Epub 2021 Mar 4. Mol Cell Biochem. 2021. PMID: 33661429 Free PMC article.

7

Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

Wang J, Hegele RA. Wang J, et al. Hum Genet. 2003 Apr;112(4):404-8. doi: 10.1007/s00439-003-0906-8. Epub 2003 Feb 6. Hum Genet. 2003. PMID: 12574942

8

Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.

Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA. Tadiboyina VT, et al. Among authors: wang j. Am J Med Genet A. 2005 Jun 15;135(3):289-91. doi: 10.1002/ajmg.a.30748. Am J Med Genet A. 2005. PMID: 15887277

9

Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease.

Yuan G, Wang J, Hegele RA. Yuan G, et al. Among authors: wang j. CMAJ. 2006 Apr 11;174(8):1124-9. doi: 10.1503/cmaj.051313. CMAJ. 2006. PMID: 16606962 Free PMC article. Review.

10

A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.

Lahiry P, Racacho L, Wang J, Robinson JF, Gloor GB, Rupar CA, Siu VM, Bulman DE, Hegele RA. Lahiry P, et al. Among authors: wang j. Orphanet J Rare Dis. 2013 Aug 17;8:126. doi: 10.1186/1750-1172-8-126. Orphanet J Rare Dis. 2013. PMID: 23957953 Free PMC article.

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