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Alison Hardcastle

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H Hassan; Genevieve Larkin; Caroline Thaung; Neil ebenezer; Alison J Hardcastle; Stephen J Tuft
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
Nele Schwarz; Alison J Hardcastle; Michael E Cheetham
Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins.
Tom R Webb; Ilaria Zito; Marina Apergi; Dalila Bevilacqua; Michael Cheetham; Alice E Davidson; Jessica C Gardner; Michael B Gorin; Naheed Kanuga; Ariadna Martinez; Michel Michaelides; David A Parfitt; Jacob H C Ressa; Nele Schwarz; Dawn L Thiselton; Alison J Hardcastle
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

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All Publications

2013: H Hassan; Genevieve Larkin; Caroline Thaung; Neil ebenezer; Alison J Hardcastle; Stephen J Tuft
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
Eye (London, England) 2013;27(3):367-73.
2012: Nele Schwarz; Alison J Hardcastle; Michael E Cheetham
Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins.
Vision research 2012;75():2-4.
2012: Tom R Webb; Ilaria Zito; Marina Apergi; Dalila Bevilacqua; Michael Cheetham; Alice E Davidson; Jessica C Gardner; Michael B Gorin; Naheed Kanuga; Ariadna Martinez; Michel Michaelides; David A Parfitt; Jacob H C Ressa; Nele Schwarz; Dawn L Thiselton; Alison J Hardcastle
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Human molecular genetics 2012;21(16):3647-54.
2012: Tom R Webb; Seyhan Yazar; Mahinda Yogarajah; Wei Ang; Tin Aung; Michael E Cheetham; Jessica C Gardner; Hala Hassan; Graham E Holder; Daniel Kelberman; Chiea C Khor; David A Mackey; Mar Matarin; Michel Michaelides; Anthony T Moore; Craig E Pennell; Anthony G Robson; Jonathan B Ruddle; Sanjay M Sisodiya; Jane C Sowden; Elias I Traboulsi; Stephen J Tuft; Alison J Hardcastle
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
American journal of human genetics 2012;90(2):247-59.
2012: Petra Liskova; Alex G Morris; Stanislava Reinstein Merjava; Tom R Webb; Shomi S Bhattacharya; Panos Deloukas; Neil ebenezer; Martin Filipec; Rhian Gwilliam; Katerina Jirsova; Alison J Hardcastle
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.
PloS one 2012;7(9):e45495.
2011: Petra Liskova; Tracy Colclough; Niki Hart-Holden; Christina F Chakarova; Anna O'Grady; Lucie Kondrova; Pavlina Skalicka; Pavel Diblik; Alison J Hardcastle
Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.
Acta ophthalmologica 2011;89(2):e213-5.
2010: Jessica C Gardner; Tom R Webb; Naheed Kanuga; Anthony G Robson; Graham Holder; Andrew Stockman; Caterina Ripamonti; Neil D Ebenezer; Olufunmilola Ogun; Sophie Devery; Genevieve A Wright; Eamonn R Maher; Michael Cheetham; Anthony T Moore; Michel Michaelides; Alison J Hardcastle
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
American journal of human genetics 2010;87(1):26-39.
2010: Simon P Brooks; Margherita Coccia; Hao R Tang; Naheed Kanuga; Laura M Machesky; Maryse Bailly; Michael E Cheetham; Alison J Hardcastle
The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.
Human molecular genetics 2010;19(12):2421-32.
2009: Margherita Coccia; Simon P Brooks; Tom R Webb; Katja Christodoulou; Izabella O Wozniak; Victoria Murday; Martha Balicki; Harris A Yee; Teresia Wangensteen; Ruth Riise; Anand K Saggar; Soo-Mi Park; Naheed Kanuga; Peter J Francis; Eamonn R Maher; Anthony T Moore; Isabelle M Russell-Eggitt; Alison J Hardcastle
X-linked cataract and Nance-Horan syndrome are allelic disorders.
Human molecular genetics 2009;18(14):2643-55.
2009: Jessica C Gardner; Michel Michaelides; Graham Holder; Naheed Kanuga; Tom R Webb; John D Mollon; Anthony T Moore; Alison J Hardcastle
Blue cone monochromacy: causative mutations and associated phenotypes.
Molecular vision 2009;15():876-84.
2008: Petra Liskova; B Veraitch; Katerina Jirsova; Martin Filipec; A Neuwirth; Neil D Ebenezer; Pirro G Hysi; Alison J Hardcastle; Stephen J Tuft; Shomi S Bhattacharya
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation.
The British journal of ophthalmology 2008;92(2):265-7.
2008: Louise Ocaka; C Zhao; J A Reed; Neil D Ebenezer; Glen Brice; T Morley; M Mehta; J O'Dowd; J L Weber; Alison J Hardcastle; Anne Child
Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel.
Journal of medical genetics 2008;45(2):87-92.
2008: Petra Liskova; Gordon K Klintworth; Brandy L Bowling; Martin Filipec; Katerina Jirsova; Stephen J Tuft; Shomi S Bhattacharya; Alison J Hardcastle; Neil D Ebenezer
Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.
Ophthalmic research 2008;40(2):105-8.
2007: Dan Hornan; Stuart N Peirson; Alison J Hardcastle; Robert S Molday; Michael Cheetham; Andrew R Webster
Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling.
Investigative ophthalmology & visual science 2007;48(12):5388-96.
2007: Petra Liskova; Stephen J Tuft; Rhian Gwilliam; Neil D Ebenezer; Katerina Jirsova; Quincy Prescott; Martincova Radka; Marike Pretorius; Neil Sinclair; David L Boase; Margaret J Jeffrey; Panos Deloukas; Alison J Hardcastle; Martin Filipec; Shomi S Bhattacharya
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
Human mutation 2007;28(6):638.
2007: Kristen M Huang; Junhua Wu; Simon P Brooks; Alison J Hardcastle; Richard Alan Lewis; Dwight Stambolian
Identification of three novel NHS mutations in families with Nance-Horan syndrome.
Molecular vision 2007;13():470-4.
2006: Ralph J Florijn; Willem J P Loves; Liesbeth J J M Maillette de Buy Wenniger-Prick; marcel mannens; Nel Tijmes; Simon P Brooks; Alison J Hardcastle; Arthur A B Bergen
New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.
European journal of human genetics : EJHG 2006;14(9):986-90.
2006: Michel Michaelides; Alison J Hardcastle; David Hunt; Anthony T Moore
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
Survey of ophthalmology 2006;51(3):232-58.
2006: R Jane Evans; Alison J Hardcastle; Michael Cheetham
Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.
Experimental eye research 2006;82(4):543-4.
2005: Rhian Gwilliam; Petra Liskova; Martin Filipec; Stanislav Kmoch; Katerina Jirsova; Elizabeth J Huckle; Catherine L Stables; Shomi S Bhattacharya; Alison J Hardcastle; Panos Deloukas; Neil D Ebenezer
Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.
Investigative ophthalmology & visual science 2005;46(12):4480-4.
2005: Subathra Poopalasundaram; Lynda Erskine; Michael Cheetham; Alison J Hardcastle
Focus on molecules: nyctalopin.
Experimental eye research 2005;81(6):627-8.
2005: Tsiang Ung; Louise E Allen; Anthony T Moore; Dorothy Trump; Ilaria Zito; Alison J Hardcastle; J Yates; Keith Bradshaw
Is optic nerve fibre mis-routing a feature of congenital stationary night blindness?
Documenta ophthalmologica. Advances in ophthalmology 2005;111(3):169-78.
2005: Mohamed F El-Ashry; Mai M Abd El-Aziz; Alison J Hardcastle; Shomi S Bhattacharya; Neil D Ebenezer
A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.
Ophthalmic research 2005;37(6):310-7.
2005: Neil D Ebenezer; Chetankumar B Patel; Seenu M Hariprasad; Li L Chen; Reshma J Patel; Alison J Hardcastle; Richard C Allen
Clinical and molecular characterization of a family with autosomal recessive cornea plana.
Archives of ophthalmology 2005;123(9):1248-53.
2005: Neil D Ebenezer; Michel Michaelides; Sharon A Jenkins; Isabelle Audo; Andrew R Webster; Michael Cheetham; Andrew Stockman; Eamonn R Maher; John R Ainsworth; John R Yates; Keith Bradshaw; Graham Holder; Anthony T Moore; Alison J Hardcastle
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
Investigative ophthalmology & visual science 2005;46(6):1891-8.
2005: R Jane Evans; J Paul Chapple; Celene Grayson; Alison J Hardcastle; Michael Cheetham
Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa.
Methods in enzymology 2005;404():468-80.
2005: Mohamed F El-Ashry; Mai M Abd El-Aziz; Osama Shalaby; Simon Wilkins; Subathra Poopalasundaram; Michael Cheetham; Stephen J Tuft; Alison J Hardcastle; Shomi S Bhattacharya; Neil D Ebenezer
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
American journal of ophthalmology 2005;139(1):192-3.
2004: Naheed A Rana; Neil D Ebenezer; Andrew R Webster; Andres R Linares; David B Whitehouse; Sue Povey; Alison J Hardcastle
Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.
Human molecular genetics 2004;13(24):3089-102.
2004: S P Brooks; Neil D Ebenezer; Subathra Poopalasundaram; Ordan J Lehmann; Anthony T Moore; Alison J Hardcastle
Identification of the gene for Nance-Horan syndrome (NHS).
Journal of medical genetics 2004;41(10):768-71.
2004: Mohamed F El-Ashry; Mai M Abd El-Aziz; Linda A Ficker; Alison J Hardcastle; Shomi S Bhattacharya; Neil D Ebenezer
BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.
Eye (London, England) 2004;18(7):723-8.
2004: Simon Brooks; Neil D Ebenezer; Subathra Poopalasundaram; Eamonn Maher; Peter J Francis; Anthony Moore; Alison J Hardcastle
Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).
Ophthalmic genetics 2004;25(2):121-31.
2004: Samantha S Dandekar; Neil D Ebenezer; Celene Grayson; J Paul Chapple; Catherine A Egan; Graham Holder; Sharon A Jenkins; Frederick W Fitzke; Michael Cheetham; Andrew R Webster; Alison J Hardcastle
An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.
The British journal of ophthalmology 2004;88(4):528-32.
2004: Keith Bradshaw; Louise Allen; Dorothy Trump; Alison J Hardcastle; Nicolas George; Anthony Moore
A comparison of ERG abnormalities in XLRS and XLCSNB.
Documenta ophthalmologica. Advances in ophthalmology 2004;108(2):135-45.
2003: Louise E Allen; Ilaria Zito; Keith Bradshaw; Reshma J Patel; Alan C Bird; F Fitzke; J R W Yates; Dorothy Trump; Alison J Hardcastle; Anthony T Moore
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
The British journal of ophthalmology 2003;87(11):1413-20.
2003: Ilaria Zito; S M Downes; Reshma J Patel; Michael Cheetham; Neil D Ebenezer; Sharon A Jenkins; Shomi S Bhattacharya; Andrew R Webster; Graham Holder; Alan C Bird; D E Bamiou; Alison J Hardcastle
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections.
Journal of medical genetics 2003;40(8):609-15.
2003: Mohamed F El-Ashry; Mai M Abd El-Aziz; Daniel F P Larkin; B Clarke; Ian Cree; Alison J Hardcastle; Shomi S Bhattacharya; Neil D Ebenezer
A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.
The British journal of ophthalmology 2003;87(7):839-42.
2003: J Paul Chapple; Celene Grayson; Alison J Hardcastle; Tracey A Bailey; Karl Matter; Peter Adamson; Catriona H Graham; Keith R Willison; Michael Cheetham
Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting.
The Biochemical journal 2003;372(Pt 2):427-33.
2003: Samantha Johnson; Stephanie Halford; Alex G Morris; Reshma J Patel; Susan E Wilkie; Alison J Hardcastle; Anthony T Moore; Kang Zhang; David Hunt
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7).
Genomics 2003;81(3):304-14.
2003: Ilaria Zito; Louise E Allen; Reshma J Patel; Alfons Meindl; Keith Bradshaw; John R Yates; Alan C Bird; Lynda Erskine; Michael Cheetham; Andrew R Webster; Subathra Poopalasundaram; Anthony T Moore; Dorothy Trump; Alison J Hardcastle
Mutations in the CACNA1F and NYX genes in British CSNBX families.
Human mutation 2003;21(2):169.
2002: Celene Grayson; Francesca Bartolini; J Paul Chapple; Keith R Willison; Arunashree Bhamidipati; Sally A Lewis; Philip J Luthert; Alison J Hardcastle; Nicholas J Cowan; Michael Cheetham
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.
Human molecular genetics 2002;11(24):3065-74.
2002: J Paul Chapple; Alison J Hardcastle; Celene Grayson; Keith R Willison; Michael Cheetham
Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.
Investigative ophthalmology & visual science 2002;43(6):2015-20.
2002: Dawn L Thiselton; Jennifer McDowall; Oliver Brandau; Juliane Ramser; Fabiana d'Esposito; Shomi S Bhattacharya; Mark T Ross; Alison J Hardcastle; Alfons Meindl
An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.
Genomics 2002;79(4):560-72.
2002: Peter J Francis; Vanita Berry; Alison J Hardcastle; Eamonn R Maher; Anthony T Moore; Shomi S Bhattacharya
A locus for isolated cataract on human Xp.
Journal of medical genetics 2002;39(2):105-9.
2002: Mohamed F El-Ashry; Mai M Abd El-Aziz; Simon Wilkins; Michael Cheetham; Susan E Wilkie; Alison J Hardcastle; Stephanie Halford; Ahmed Y Bayoumi; Linda A Ficker; Stephen J Tuft; Shomi S Bhattacharya; Neil D Ebenezer
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
Investigative ophthalmology & visual science 2002;43(2):377-82.
2002: Celene Grayson; J Paul Chapple; Keith R Willison; Andrew R Webster; Alison J Hardcastle; Michael Cheetham
In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients.
Journal of medical genetics 2002;39(1):62-7.
2001: J Paul Chapple; Celene Grayson; Alison J Hardcastle; Richard S Saliba; Jacqueline van der Spuy; Michael Cheetham
Unfolding retinal dystrophies: a role for molecular chaperones?
Trends in molecular medicine 2001;7(9):414-21.
2000: Carsten M Pusch; Christina Zeitz; Oliver Brandau; Katrin Pesch; Helene Achatz; Silke Feil; C Scharfe; J Maurer; Felix K Jacobi; Alfred J L G Pinckers; sten andreasson; Alison J Hardcastle; Bernd Wissinger; Wolfgang Berger; Alfons Meindl
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
Nature genetics 2000;26(3):324-7.
2000: Ilaria Zito; A Morris; P Tyson; I Winship; D Sharp; D Gilbert; Dawn L Thiselton; Shomi S Bhattacharya; Alison J Hardcastle
Sequence variation within the RPGR gene: evidence for a founder complex allele.
Human mutation 2000;16(3):273-4.
2000: J Paul Chapple; Alison J Hardcastle; Celene Grayson; L A Spackman; Keith R Willison; Michael Cheetham
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.
Human molecular genetics 2000;9(13):1919-26.
2000: Alison J Hardcastle; Dawn L Thiselton; Ilaria Zito; Neil D Ebenezer; Tammy S Mah; Michael B Gorin; Shomi S Bhattacharya
Evidence for a new locus for X-linked retinitis pigmentosa (RP23).
Investigative ophthalmology & visual science 2000;41(8):2080-6.
2000: Dawn L Thiselton; Ilaria Zito; C Plant; MR Jay; Shirley V Hodgson; Alan C Bird; Shomi S Bhattacharya; Alison J Hardcastle
Novel frameshift mutations in the RP2 gene and polymorphic variants.
Human mutation 2000;15(6):580.
2000: Ilaria Zito; Michael B Gorin; C Plant; Alan C Bird; Shomi S Bhattacharya; Alison J Hardcastle
Novel mutations of the RPGR gene in RP3 families.
Human mutation 2000;15(4):386.
1999: Christina J Flaxel; MR Jay; Dawn L Thiselton; M Nayudu; Alison J Hardcastle; A Wright; Alan C Bird
Difference between RP2 and RP3 phenotypes in X linked retinitis pigmentosa.
The British journal of ophthalmology 1999;83(10):1144-8.
1999: Ilaria Zito; Dawn L Thiselton; Michael B Gorin; J Timothy Stout; C Plant; Alan C Bird; Shomi S Bhattacharya; Alison J Hardcastle
Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus.
Human genetics 1999;105(1-2):57-62.
1999: Alison J Hardcastle; Dawn L Thiselton; L Van Maldergem; bratin saha; MR Jay; C Plant; R Taylor; Alan C Bird; S Bhattacharya
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.
American journal of human genetics 1999;64(4):1210-5.
1999: J Paul Chapple; Alison J Hardcastle; U Kurzik-Dumke; D A Collier; Michael Cheetham
Assignment of the neuronal cochaperone, HSJ1, to human chromosome bands 2q32-->q34 between D2S295 and D2S339 by in situ hybridization and somatic cell and radiation hybrids.
Cytogenetics and cell genetics 1999;86(1):62-3.
1997: Alison J Hardcastle; Z K David-Gray; MR Jay; Alan C Bird; Shomi S Bhattacharya
Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
Investigative ophthalmology & visual science 1997;38(13):2750-5.
1997: Alison J Hardcastle; Dawn L Thiselton; M Nayudu; R M Hampson; Shomi S Bhattacharya
Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2.
Investigative ophthalmology & visual science 1997;38(9):1893-6.
1996: Dawn L Thiselton; R M Hampson; M Nayudu; L Van Maldergem; M L Wolf; B K Saha; Shomi S Bhattacharya; Alison J Hardcastle
Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.
Genome research 1996;6(11):1093-102.
1995: Dawn L Thiselton; S Lindsay; S Kamakari; Alison J Hardcastle; P Roustan; Shomi S Bhattacharya
Genetic and physical mapping of five novel microsatellite markers on human Xp21.1-p11.22.
Genomics 1995;25(1):279-81.
1995: S Kamakari; Dawn L Thiselton; S Lindsay; Alison J Hardcastle; Shomi Bhattacharya
FISH mapping of 22 novel X chromosome cosmids and the isolation of a novel microsatellite on proximal Xp.
Cytogenetics and cell genetics 1995;71(2):151-4.
1994: M al-Maghtheh; R Y Kim; Alison J Hardcastle; Chris F Inglehearn; Shomi S Bhattacharya
A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.
Human molecular genetics 1994;3(1):205-6.
1993: M al-Maghtheh; C Gregory; Chris F Inglehearn; Alison J Hardcastle; Shomi Bhattacharya
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
Human mutation 1993;2(4):249-55.
1990: R Bellamy; Chris F Inglehearn; D Lester; Alison J Hardcastle; Shomi Bhattacharya
Better fingerprinting with PCR.
Trends in genetics : TIG 1990;6(2):32.