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Items: 50


Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Jiman OA, Taylor RL, Lenassi E, Smith JC, Douzgou S, Ellingford JM, Barton S, Hardcastle C, Fletcher T, Campbell C, Ashworth J, Biswas S, Ramsden SC; UK Inherited Retinal Disease Consortium, Manson FD, Black GC.

Eur J Hum Genet. 2019 Dec 13. doi: 10.1038/s41431-019-0548-5. [Epub ahead of print]


A Quantitative Chloride Channel Conductance Assay for Efficacy Testing of AAV.BEST1.

Wood SR, McClements ME, Martinez-Fernandez de la Camara C, Patrício MI, Uggenti C, Sekaran S, Barnard AR, Manson FD, MacLaren RE.

Hum Gene Ther Methods. 2019 Apr;30(2):44-52. doi: 10.1089/hgtb.2018.267.


Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model.

Uggenti C, Briant K, Streit AK, Thomson S, Koay YH, Baines RA, Swanton E, Manson FD.

Dis Model Mech. 2016 Nov 1;9(11):1317-1328. Epub 2016 Aug 12.


Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

Porter LF, Gallego-Pinazo R, Keeling CL, Kamieniorz M, Zoppi N, Colombi M, Giunta C, Bonshek R, Manson FD, Black GC.

Orphanet J Rare Dis. 2015 Nov 11;10:145. doi: 10.1186/s13023-015-0360-4.


A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Porter LF, Galli GG, Williamson S, Selley J, Knight D, Elcioglu N, Aydin A, Elcioglu M, Venselaar H, Lund AH, Bonshek R, Black GC, Manson FD.

Hum Mol Genet. 2015 Dec 1;24(23):6565-79. doi: 10.1093/hmg/ddv345. Epub 2015 Sep 22.


MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma.

Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC.

Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3236-45. doi: 10.1073/pnas.1401464112. Epub 2015 Jun 8.


Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.

Johnson AA, Lee YS, Chadburn AJ, Tammaro P, Manson FD, Marmorstein LY, Marmorstein AD.

Exp Eye Res. 2014 Apr;121:74-85. doi: 10.1016/j.exer.2014.02.006. Epub 2014 Feb 19. Erratum in: Exp Eye Res. 2014 Oct;127:300.


Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

Courtney DG, Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson FD, Yam GH, Macewen CJ, Allen EH, McLean WH, Moore CB.

Invest Ophthalmol Vis Sci. 2014 Feb 18;55(2):977-85. doi: 10.1167/iovs.13-13279.


ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Bürer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C.

Mol Genet Metab. 2013 Jul;109(3):289-95. doi: 10.1016/j.ymgme.2013.04.014. Epub 2013 Apr 26.


Brittle cornea syndrome: recognition, molecular diagnosis and management.

Burkitt Wright EM, Porter LF, Spencer HL, Clayton-Smith J, Au L, Munier FL, Smithson S, Suri M, Rohrbach M, Manson FD, Black GC.

Orphanet J Rare Dis. 2013 May 4;8:68. doi: 10.1186/1750-1172-8-68. Review.


RPGR-associated retinal degeneration in human X-linked RP and a murine model.

Huang WC, Wright AF, Roman AJ, Cideciyan AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG.

Invest Ophthalmol Vis Sci. 2012 Aug 15;53(9):5594-608. doi: 10.1167/iovs.12-10070.


Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD.

Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.251. Epub 2012 Jan 11. No abstract available.


Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2.

Porter LF, Urquhart JE, O'Donoghue E, Spencer AF, Wade EM, Manson FD, Black GC.

Invest Ophthalmol Vis Sci. 2011 Oct 4;52(11):7859-65. doi: 10.1167/iovs.10-6581.


Focus on molecules: lens intrinsic membrane protein (LIM2/MP20).

Maher GJ, Black GC, Manson FD.

Exp Eye Res. 2012 Oct;103:115-6. doi: 10.1016/j.exer.2011.08.006. Epub 2011 Aug 16. No abstract available.


Childhood-onset autosomal recessive bestrophinopathy.

Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT.

Arch Ophthalmol. 2011 Aug;129(8):1088-93. doi: 10.1001/archophthalmol.2011.197. No abstract available.


The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members.

Maher GJ, Hilton EN, Urquhart JE, Davidson AE, Spencer HL, Black GC, Manson FD.

FEBS Lett. 2011 Jul 21;585(14):2187-92. doi: 10.1016/j.febslet.2011.05.060. Epub 2011 Jun 16.


Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Burkitt Wright EMM, Spencer HL, Daly SB, Manson FDC, Zeef LAH, Urquhart J, Zoppi N, Bonshek R, Tosounidis I, Mohan M, Madden C, Dodds A, Chandler KE, Banka S, Au L, Clayton-Smith J, Khan N, Biesecker LG, Wilson M, Rohrbach M, Colombi M, Giunta C, Black GCM.

Am J Hum Genet. 2011 Jun 10;88(6):767-777. doi: 10.1016/j.ajhg.2011.05.007. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):346.


Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

Davidson AE, Millar ID, Burgess-Mullan R, Maher GJ, Urquhart JE, Brown PD, Black GC, Manson FD.

Invest Ophthalmol Vis Sci. 2011 Jun 1;52(6):3730-6. doi: 10.1167/iovs.10-6707.


A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.

Davidson AE, Sergouniotis PI, Burgess-Mullan R, Hart-Holden N, Low S, Foster PJ, Manson FD, Black GC, Webster AR.

Mol Vis. 2010 Dec 31;16:2916-22.


Cerebellar hypoplasia and Cohen syndrome: a confirmed association.

Waite A, Somer M, O'Driscoll M, Millen K, Manson FD, Chandler KE.

Am J Med Genet A. 2010 Sep;152A(9):2390-3. doi: 10.1002/ajmg.a.33569. No abstract available.


Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC.

Am J Hum Genet. 2010 May 14;86(5):686-95. doi: 10.1016/j.ajhg.2010.03.005. Epub 2010 Apr 15.


Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD.

Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22.


The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE.

Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021. Epub 2009 May 28.


ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD.

J Med Genet. 2009 Sep;46(9):620-5. doi: 10.1136/jmg.2008.059881. Epub 2008 Jul 8.


Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Tassabehji M, Fang ZM, Hilton EN, McGaughran J, Zhao Z, de Bock CE, Howard E, Malass M, Donnai D, Diwan A, Manson FD, Murrell D, Clarke RA.

Hum Mutat. 2008 Aug;29(8):1017-27. doi: 10.1002/humu.20741.


Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC.

Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004.


Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC.

Am J Hum Genet. 2007 Aug;81(2):292-303. Epub 2007 Jun 13.


De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

Hilton EN, Black GC, Manson FD, Schorderet DF, Munier FL.

Br J Ophthalmol. 2007 Aug;91(8):1083-4. No abstract available.


Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC.

Hum Mol Genet. 2007 Jul 15;16(14):1773-82. Epub 2007 May 21.


Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

Leroy BP, Kailasanathan A, De Laey JJ, Black GC, Manson FD.

Br J Ophthalmol. 2007 Jan;91(1):89-93. Epub 2006 Aug 17.


Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?

Khan A, Chandler K, Pimenides D, Black GC, Manson FD.

Br J Ophthalmol. 2006 Mar;90(3):390-1. No abstract available.


Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Michaelides M, Urquhart J, Holder GE, Restori M, Kayali N, Manson FD, Black GC.

Am J Ophthalmol. 2006 Feb;141(2):418-20.


Developmental and tissue expression of Xenopus laevis RPGR.

Shu X, Zeng Z, Eckmiller MS, Gautier P, Vlachantoni D, Manson FD, Tulloch B, Sharpe C, Gorecki DC, Wright AF.

Invest Ophthalmol Vis Sci. 2006 Jan;47(1):348-56.


Inherited eye disease: cause and late effect.

Manson FD, Trump D, Read AP, Black GC.

Trends Mol Med. 2005 Oct;11(10):449-55. Epub 2005 Sep 8. Review.


RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.

Shu X, Fry AM, Tulloch B, Manson FD, Crabb JW, Khanna H, Faragher AJ, Lennon A, He S, Trojan P, Giessl A, Wolfrum U, Vervoort R, Swaroop A, Wright AF.

Hum Mol Genet. 2005 May 1;14(9):1183-97. Epub 2005 Mar 16.


Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC.

Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9.


Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD.

Am J Hum Genet. 2004 Jul;75(1):122-7. Epub 2004 May 12.


Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).

Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF.

Hum Mutat. 1999;13(2):141-5.


Interaction of cytochrome c with flavocytochrome b2.

Daff S, Sharp RE, Short DM, Bell C, White P, Manson FD, Reid GA, Chapman SK.

Biochemistry. 1996 May 21;35(20):6351-7.


Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).

Dry KL, Aldred MA, Edgar AJ, Brown J, Manson FD, Ho MF, Prosser J, Hardwick LJ, Lennon AA, Thomson K, et al.

Hum Mol Genet. 1995 Dec;4(12):2347-53.


On the lack of coordination between protein folding and flavin insertion in Escherichia coli for flavocytochrome b2 mutant forms Y254L and D282N.

Gondry M, Diêp Lê KH, Manson FD, Chapman SK, Mathews FS, Reid GA, Lederer F.

Protein Sci. 1995 May;4(5):925-35.


Mutation to glutamine of histidine 373, the catalytic base of flavocytochrome b2 (L-lactate dehydrogenase).

Gaume B, Sharp RE, Manson FD, Chapman SK, Reid GA, Lederer F.

Biochimie. 1995;77(7-8):621-30.


Purification and properties of a novel cytochrome: flavocytochrome c from Shewanella putrefaciens.

Morris CJ, Black AC, Pealing SL, Manson FD, Chapman SK, Reid GA, Gibson DM, Ward FB.

Biochem J. 1994 Sep 1;302 ( Pt 2):587-93.


Strategic manipulation of the substrate specificity of Saccharomyces cerevisiae flavocytochrome b2.

Daff S, Manson FD, Reid GA, Chapman SK.

Biochem J. 1994 Aug 1;301 ( Pt 3):829-34.


Flavin to haem electron transfer in flavocytochrome b2.

Chapman SK, Reid GA, Daff S, Sharp RE, White P, Manson FD, Lederer F.

Biochem Soc Trans. 1994 Aug;22(3):713-8. No abstract available.


Manipulation of the substrate specificity of flavocytochrome b2.

Daff S, Manson FD, Reid GA, Chapman SK.

Biochem Soc Trans. 1994 Aug;22(3):282S. No abstract available.


Investigation of interdomain communication in flavocytochrome b2 by generation of interspecies hybrid enzymes.

White P, Short DM, Manson FD, Chapman SK, Reid GA.

Biochem Soc Trans. 1994 Aug;22(3):279S. No abstract available.


Substitution of a haem-iron axial ligand in flavocytochrome b2.

Miles CS, Manson FD, Reid GA, Chapman SK.

Biochim Biophys Acta. 1993 Sep 3;1202(1):82-6.


The importance of the interdomain hinge in intramolecular electron transfer in flavocytochrome b2.

White P, Manson FD, Brunt CE, Chapman SK, Reid GA.

Biochem J. 1993 Apr 1;291 ( Pt 1):89-94.


Sequence of the gene encoding flavocytochrome c from Shewanella putrefaciens: a tetraheme flavoenzyme that is a soluble fumarate reductase related to the membrane-bound enzymes from other bacteria.

Pealing SL, Black AC, Manson FD, Ward FB, Chapman SK, Reid GA.

Biochemistry. 1992 Dec 8;31(48):12132-40. Erratum in: Biochemistry 1993 Apr 13;32(14):3829.


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