Hardcastle AJ - Search Results

1

Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.

Zarouchlioti C, Efthymiou S, Facchini S, Dominik N, Bhattacharyya N, Liu S, Costa MA, Szabo A, Sadan AN, Jun AS, Bugiardini E, Houlden H, Cortese A, Skalicka P, Dudakova L, Muthusamy K, Cheetham ME, Hardcastle AJ, Liskova P, Tuft SJ, Davidson AE. Zarouchlioti C, et al. Among authors: hardcastle aj. EBioMedicine. 2024 Oct;108:105328. doi: 10.1016/j.ebiom.2024.105328. Epub 2024 Sep 14. EBioMedicine. 2024. PMID: 39278108 Free PMC article.

2

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.

El-Ashry MF, Abd El-Aziz MM, Wilkins S, Cheetham ME, Wilkie SE, Hardcastle AJ, Halford S, Bayoumi AY, Ficker LA, Tuft S, Bhattacharya SS, Ebenezer ND. El-Ashry MF, et al. Among authors: hardcastle aj. Invest Ophthalmol Vis Sci. 2002 Feb;43(2):377-82. Invest Ophthalmol Vis Sci. 2002. PMID: 11818380

3

Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.

Chapple JP, Hardcastle AJ, Grayson C, Willison KR, Cheetham ME. Chapple JP, et al. Among authors: hardcastle aj. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):2015-20. Invest Ophthalmol Vis Sci. 2002. PMID: 12037013

4

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.

Grayson C, Bartolini F, Chapple JP, Willison KR, Bhamidipati A, Lewis SA, Luthert PJ, Hardcastle AJ, Cowan NJ, Cheetham ME. Grayson C, et al. Among authors: hardcastle aj. Hum Mol Genet. 2002 Nov 15;11(24):3065-74. doi: 10.1093/hmg/11.24.3065. Hum Mol Genet. 2002. PMID: 12417528

5

Mutations in the CACNA1F and NYX genes in British CSNBX families.

Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ. Zito I, et al. Among authors: hardcastle aj. Hum Mutat. 2003 Feb;21(2):169. doi: 10.1002/humu.9106. Hum Mutat. 2003. PMID: 12552565

6

Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting.

Chapple JP, Grayson C, Hardcastle AJ, Bailey TA, Matter K, Adamson P, Graham CH, Willison KR, Cheetham ME. Chapple JP, et al. Among authors: hardcastle aj. Biochem J. 2003 Jun 1;372(Pt 2):427-33. doi: 10.1042/BJ20021475. Biochem J. 2003. PMID: 12648035 Free PMC article.

7

Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.

El-Ashry MF, Abd El-Aziz MM, Shalaby O, Wilkins S, Poopalasundaram S, Cheetham M, Tuft SJ, Hardcastle AJ, Bhattacharya SS, Ebenezer ND. El-Ashry MF, et al. Among authors: hardcastle aj. Am J Ophthalmol. 2005 Jan;139(1):192-3. doi: 10.1016/j.ajo.2004.07.001. Am J Ophthalmol. 2005. PMID: 15652851

8

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.

Ebenezer ND, Michaelides M, Jenkins SA, Audo I, Webster AR, Cheetham ME, Stockman A, Maher ER, Ainsworth JR, Yates JR, Bradshaw K, Holder GE, Moore AT, Hardcastle AJ. Ebenezer ND, et al. Among authors: hardcastle aj. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8. doi: 10.1167/iovs.04-1482. Invest Ophthalmol Vis Sci. 2005. PMID: 15914600

9

Focus on molecules: nyctalopin.

Poopalasundaram S, Erskine L, Cheetham ME, Hardcastle AJ. Poopalasundaram S, et al. Among authors: hardcastle aj. Exp Eye Res. 2005 Dec;81(6):627-8. doi: 10.1016/j.exer.2005.07.017. Epub 2005 Sep 12. Exp Eye Res. 2005. PMID: 16157331 Review. No abstract available.

10

Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.

Evans RJ, Hardcastle AJ, Cheetham ME. Evans RJ, et al. Among authors: hardcastle aj. Exp Eye Res. 2006 Apr;82(4):543-4. doi: 10.1016/j.exer.2005.10.023. Epub 2005 Nov 28. Exp Eye Res. 2006. PMID: 16310188 Review. No abstract available.

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