Jackson IJ - Search Results

1

The Dct^-/- Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.

Tingaud-Sequeira A, Mercier E, Michaud V, Pinson B, Gazova I, Gontier E, Decoeur F, McKie L, Jackson IJ, Arveiler B, Javerzat S. Tingaud-Sequeira A, et al. Among authors: jackson ij. Genes (Basel). 2022 Jun 27;13(7):1164. doi: 10.3390/genes13071164. Genes (Basel). 2022. PMID: 35885947 Free PMC article.

2

Dopachrome tautomerase variants in patients with oculocutaneous albinism.

Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B. Pennamen P, et al. Genet Med. 2021 Mar;23(3):479-487. doi: 10.1038/s41436-020-00997-8. Epub 2020 Oct 26. Genet Med. 2021. PMID: 33100333 Free article.

3

White-based brown (Tyrp1B-w) is a dominant mutation causing reduced hair pigmentation owing to a chromosomal inversion.

Javerzat S, Jackson IJ. Javerzat S, et al. Among authors: jackson ij. Mamm Genome. 1998 Jun;9(6):469-71. doi: 10.1007/s003359900798. Mamm Genome. 1998. PMID: 9585436 No abstract available.

4

A mouse model of brittle cornea syndrome caused by mutation in Zfp469.

Stanton CM, Findlay AS, Drake C, Mustafa MZ, Gautier P, McKie L, Jackson IJ, Vitart V. Stanton CM, et al. Among authors: jackson ij. Dis Model Mech. 2021 Sep 1;14(9):dmm049175. doi: 10.1242/dmm.049175. Epub 2021 Sep 22. Dis Model Mech. 2021. PMID: 34368841 Free PMC article.

5

Fam151b, the mouse homologue of C.elegans menorin gene, is essential for retinal function.

Findlay AS, McKie L, Keighren M, Clementson-Mobbs S, Sanchez-Pulido L, Wells S, Cross SH, Jackson IJ. Findlay AS, et al. Among authors: jackson ij. Sci Rep. 2020 Jan 16;10(1):437. doi: 10.1038/s41598-019-57398-4. Sci Rep. 2020. PMID: 31949211 Free PMC article.

6

Novel ENU-induced eye mutations in the mouse: models for human eye disease.

Thaung C, West K, Clark BJ, McKie L, Morgan JE, Arnold K, Nolan PM, Peters J, Hunter AJ, Brown SD, Jackson IJ, Cross SH. Thaung C, et al. Among authors: jackson ij. Hum Mol Genet. 2002 Apr 1;11(7):755-67. doi: 10.1093/hmg/11.7.755. Hum Mol Genet. 2002. PMID: 11929848

7

Genotype-phenotype correlation of mouse pde6b mutations.

Hart AW, McKie L, Morgan JE, Gautier P, West K, Jackson IJ, Cross SH. Hart AW, et al. Among authors: jackson ij. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3443-50. doi: 10.1167/iovs.05-0254. Invest Ophthalmol Vis Sci. 2005. PMID: 16123450

8

Humanized MC1R transgenic mice reveal human specific receptor function.

Jackson IJ, Budd PS, Keighren M, McKie L. Jackson IJ, et al. Hum Mol Genet. 2007 Oct 1;16(19):2341-8. doi: 10.1093/hmg/ddm191. Epub 2007 Jul 25. Hum Mol Genet. 2007. PMID: 17652101

9

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.

Cross SH, McKie L, West K, Coghill EL, Favor J, Bhattacharya S, Brown SD, Jackson IJ. Cross SH, et al. Among authors: jackson ij. Hum Mol Genet. 2011 Jan 15;20(2):223-34. doi: 10.1093/hmg/ddq457. Epub 2010 Oct 13. Hum Mol Genet. 2011. PMID: 20943750 Free PMC article.

10

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

Hart AW, Morgan JE, Schneider J, West K, McKie L, Bhattacharya S, Jackson IJ, Cross SH. Hart AW, et al. Among authors: jackson ij. Hum Mol Genet. 2006 Aug 15;15(16):2457-67. doi: 10.1093/hmg/ddl168. Epub 2006 Jul 6. Hum Mol Genet. 2006. PMID: 16825286

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