Sharma S - Search Results

1

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.

Burdon KP, Sharma S, Chen CS, Dimasi DP, Mackey DA, Craig JE. Burdon KP, et al. Among authors: sharma s. Hum Mutat. 2007 Jul;28(7):742. doi: 10.1002/humu.9501. Hum Mutat. 2007. PMID: 17579362

2

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Among authors: sharma s. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.

3

RZF, a zinc-finger protein in the photoreceptors of human retina.

Sharma S, Dimasi D, Higginson K, Della NG. Sharma S, et al. Gene. 2004 Nov 24;342(2):219-29. doi: 10.1016/j.gene.2004.08.015. Gene. 2004. PMID: 15527981

4

Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions.

Sharma S, Ang SL, Shaw M, Mackey DA, Gécz J, McAvoy JW, Craig JE. Sharma S, et al. Hum Mol Genet. 2006 Jun 15;15(12):1972-83. doi: 10.1093/hmg/ddl120. Epub 2006 May 4. Hum Mol Genet. 2006. PMID: 16675532

5

Heme carrier protein 1 (HCP1) expression and functional analysis in the retina and retinal pigment epithelium.

Sharma S, Dimasi D, Bröer S, Kumar R, Della NG. Sharma S, et al. Exp Cell Res. 2007 Apr 1;313(6):1251-9. doi: 10.1016/j.yexcr.2007.01.019. Epub 2007 Feb 6. Exp Cell Res. 2007. PMID: 17335806

6

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.

Hewitt AW, Sharma S, Burdon KP, Wang JJ, Baird PN, Dimasi DP, Mackey DA, Mitchell P, Craig JE. Hewitt AW, et al. Among authors: sharma s. Hum Mol Genet. 2008 Mar 1;17(5):710-6. doi: 10.1093/hmg/ddm342. Epub 2007 Nov 23. Hum Mol Genet. 2008. PMID: 18037624

7

Genetic analysis of the clusterin gene in pseudoexfoliation syndrome.

Burdon KP, Sharma S, Hewitt AW, McMellon AE, Wang JJ, Mackey DA, Mitchell P, Craig JE. Burdon KP, et al. Among authors: sharma s. Mol Vis. 2008 Sep 22;14:1727-36. Mol Vis. 2008. PMID: 18806885 Free PMC article.

8

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

Sharma S, Burdon KP, Dave A, Jamieson RV, Yaron Y, Billson F, Van Maldergem L, Lorenz B, Gécz J, Craig JE. Sharma S, et al. Mol Vis. 2008;14:1856-64. Epub 2008 Oct 20. Mol Vis. 2008. PMID: 18949062 Free PMC article.

9

Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry.

Sharma S, Chataway T, Burdon KP, Jonavicius L, Klebe S, Hewitt AW, Mills RA, Craig JE. Sharma S, et al. Exp Eye Res. 2009 Oct;89(4):479-85. doi: 10.1016/j.exer.2009.05.001. Epub 2009 May 12. Exp Eye Res. 2009. PMID: 19442659

10

NHS-A isoform of the NHS gene is a novel interactor of ZO-1.

Sharma S, Koh KS, Collin C, Dave A, McMellon A, Sugiyama Y, McAvoy JW, Voss AK, Gécz J, Craig JE. Sharma S, et al. Exp Cell Res. 2009 Aug 15;315(14):2358-72. doi: 10.1016/j.yexcr.2009.05.008. Epub 2009 May 15. Exp Cell Res. 2009. PMID: 19447104

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