Brooks S - Search Results

1

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M. Thiselton DL, et al. Among authors: brooks s. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1715-24. Invest Ophthalmol Vis Sci. 2002. PMID: 12036970 Free article.

2

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.

Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya SS, Votruba M. Thiselton DL, et al. Among authors: brooks s. Hum Genet. 2001 Nov;109(5):498-502. doi: 10.1007/s004390100600. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735024

3

Identification of the gene for Nance-Horan syndrome (NHS).

Brooks SP, Ebenezer ND, Poopalasundaram S, Lehmann OJ, Moore AT, Hardcastle AJ. Brooks SP, et al. J Med Genet. 2004 Oct;41(10):768-71. doi: 10.1136/jmg.2004.022517. J Med Genet. 2004. PMID: 15466011 Free PMC article.

4

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

Brooks S, Ebenezer N, Poopalasundaram S, Maher E, Francis P, Moore A, Hardcastle A. Brooks S, et al. Ophthalmic Genet. 2004 Jun;25(2):121-31. doi: 10.1080/13816810490514360. Ophthalmic Genet. 2004. PMID: 15370543

5

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ. Coccia M, et al. Hum Mol Genet. 2009 Jul 15;18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4. Hum Mol Genet. 2009. PMID: 19414485 Free PMC article.

6

Identification of three novel NHS mutations in families with Nance-Horan syndrome.

Huang KM, Wu J, Brooks SP, Hardcastle AJ, Lewis RA, Stambolian D. Huang KM, et al. Mol Vis. 2007 Mar 27;13:470-4. Mol Vis. 2007. PMID: 17417607 Free PMC article.

7

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

Florijn RJ, Loves W, Maillette de Buy Wenniger-Prick LJ, Mannens MM, Tijmes N, Brooks SP, Hardcastle AJ, Bergen AA. Florijn RJ, et al. Eur J Hum Genet. 2006 Sep;14(9):986-90. doi: 10.1038/sj.ejhg.5201671. Epub 2006 May 31. Eur J Hum Genet. 2006. PMID: 16736028

8

The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.

Brooks SP, Coccia M, Tang HR, Kanuga N, Machesky LM, Bailly M, Cheetham ME, Hardcastle AJ. Brooks SP, et al. Hum Mol Genet. 2010 Jun 15;19(12):2421-32. doi: 10.1093/hmg/ddq125. Epub 2010 Mar 23. Hum Mol Genet. 2010. PMID: 20332100 Free PMC article.

9

Inflammation switches the chemoattractant requirements for naive lymphocyte entry into lymph nodes.

Chen KY, De Giovanni M, Xu Y, An J, Kirthivasan N, Lu E, Jiang K, Brooks S, Ranucci S, Yang J, Kanameishi S, Kabashima K, Brulois K, Bscheider M, Butcher EC, Cyster JG. Chen KY, et al. Among authors: brooks s. Cell. 2024 Dec 17:S0092-8674(24)01347-3. doi: 10.1016/j.cell.2024.11.031. Online ahead of print. Cell. 2024. PMID: 39708807 Free article.

10

The circadian clock gene BMAL1 modulates autoimmunity features in lupus.

Nakabo S, Sandoval-Heglund D, Hanata N, Brooks S, Hoffmann V, Zhang M, Ambler W, Manna Z, Poncio E, Hasni S, Islam S, Dell'Orso S, Kaplan MJ. Nakabo S, et al. Among authors: brooks s. Front Immunol. 2024 Nov 27;15:1465185. doi: 10.3389/fimmu.2024.1465185. eCollection 2024. Front Immunol. 2024. PMID: 39664388 Free PMC article.

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