Jamieson RV - Search Results

1

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC. Jamieson RV, et al. Hum Mol Genet. 2002 Jan 1;11(1):33-42. doi: 10.1093/hmg/11.1.33. Hum Mol Genet. 2002. PMID: 11772997

2

A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding.

Lyon MF, Jamieson RV, Perveen R, Glenister PH, Griffiths R, Boyd Y, Glimcher LH, Favor J, Munier FL, Black GC. Lyon MF, et al. Among authors: jamieson rv. Hum Mol Genet. 2003 Mar 15;12(6):585-94. Hum Mol Genet. 2003. PMID: 12620964

3

Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.

Jamieson RV, Munier F, Balmer A, Farrar N, Perveen R, Black GC. Jamieson RV, et al. Br J Ophthalmol. 2003 Apr;87(4):411-2. doi: 10.1136/bjo.87.4.411. Br J Ophthalmol. 2003. PMID: 12642301 Free PMC article.

4

Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis.

Jamieson RV, Gaunt L, Donnai D, Black GC, Kerr B, Stecko O, Black GC. Jamieson RV, et al. Br J Ophthalmol. 2003 May;87(5):646-8. doi: 10.1136/bjo.87.5.646-a. Br J Ophthalmol. 2003. PMID: 12714415 Free PMC article. No abstract available.

5

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.

Perveen R, Favor J, Jamieson RV, Ray DW, Black GC. Perveen R, et al. Among authors: jamieson rv. Hum Mol Genet. 2007 May 1;16(9):1030-8. doi: 10.1093/hmg/ddm048. Epub 2007 Mar 20. Hum Mol Genet. 2007. PMID: 17374726

6

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC. Jamieson RV, et al. Hum Mutat. 2007 Oct;28(10):968-77. doi: 10.1002/humu.20545. Hum Mutat. 2007. PMID: 17492639

7

PAX6 mutations may be associated with high myopia.

Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, van Heyningen V, Mackey DA. Hewitt AW, et al. Among authors: jamieson rv. Ophthalmic Genet. 2007 Sep;28(3):179-82. doi: 10.1080/13816810701356676. Ophthalmic Genet. 2007. PMID: 17896318

8

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV. Greenlees R, et al. Among authors: jamieson rv. Hum Mol Genet. 2015 Oct 15;24(20):5789-804. doi: 10.1093/hmg/ddv298. Epub 2015 Jul 30. Hum Mol Genet. 2015. PMID: 26231217

9

Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.

Ma AS, Grigg JR, Jamieson RV. Ma AS, et al. Among authors: jamieson rv. Hum Genet. 2019 Sep;138(8-9):899-915. doi: 10.1007/s00439-018-1935-7. Epub 2018 Sep 21. Hum Genet. 2019. PMID: 30242500 Review.

10

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.

Mihelec M, St Heaps L, Flaherty M, Billson F, Rudduck C, Tam PP, Grigg JR, Peters GB, Jamieson RV. Mihelec M, et al. Among authors: jamieson rv. Twin Res Hum Genet. 2008 Aug;11(4):412-21. doi: 10.1375/twin.11.4.412. Twin Res Hum Genet. 2008. PMID: 18637741 Review.

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