Works by Hardcastle, Alison J.

Results: 43
    1

    A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models Open Access.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 9, p. 821, doi. 10.1093/hmg/ddaf029
    By:
    • Corral-Serrano, Julio C;
    • Vaclavik, Veronika;
    • Sompele, Stijn Van de;
    • Kaminska, Karolina;
    • Jovanovic, Katarina;
    • Escher, Pascal;
    • Broeck, Filip Van den;
    • Cancellieri, Francesca;
    • Toulis, Vasileios;
    • Leroy, Bart P;
    • Zaeytijd, Julie de;
    • You, Zhixuan;
    • Ottaviani, Daniele;
    • Quinodoz, Mathieu;
    • Bordeanu, Gabriela;
    • Hardcastle, Alison J;
    • Coppieters, Frauke;
    • Tran, Viet H;
    • Cheetham, Michael E;
    • Rivolta, Carlo
    Publication type:
    Article
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    Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
    By:
    • Fiorentino, Alessia;
    • Fujinami, Kaoru;
    • Arno, Gavin;
    • Robson, Anthony G.;
    • Pontikos, Nikolas;
    • Arasanz Armengol, Monica;
    • Plagnol, Vincent;
    • Hayashi, Takaaki;
    • Iwata, Takeshi;
    • Parker, Matthew;
    • Fowler, Tom;
    • Rendon, Augusto;
    • Gardner, Jessica C.;
    • Henderson, Robert H.;
    • Cheetham, Michael E.;
    • Webster, Andrew R.;
    • Michaelides, Michel;
    • Hardcastle, Alison J.;
    • for the 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
    Publication type:
    Article
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    Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants.

    Published in:
    Human Mutation, 2014, v. 35, n. 11, p. 1354, doi. 10.1002/humu.22679
    By:
    • Gardner, Jessica C.;
    • Liew, Gerald;
    • Quan, Ying‐Hua;
    • Ermetal, Burcu;
    • Ueyama, Hisao;
    • Davidson, Alice E.;
    • Schwarz, Nele;
    • Kanuga, Naheed;
    • Chana, Ravinder;
    • Maher, Eamonn R.;
    • Webster, Andrew R.;
    • Holder, Graham E.;
    • Robson, Anthony G.;
    • Cheetham, Michael E.;
    • Liebelt, Jan;
    • Ruddle, Jonathan B.;
    • Moore, Anthony T.;
    • Michaelides, Michel;
    • Hardcastle, Alison J.
    Publication type:
    Article
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    Mutations in the CACNA1F and NYX genes in British CSNBX families.

    Published in:
    Human Mutation, 2003, v. 21, n. 2, p. 169, doi. 10.1002/humu.9106
    By:
    • Zito, Ilaria;
    • Allen, Louise E.;
    • Patel, Reshma J.;
    • Meindl, Alfons;
    • Bradshaw, Keith;
    • Yates, John R.;
    • Bird, Alan C.;
    • Erskine, Lynda;
    • Cheetham, Michael E.;
    • Webster, Andrew R.;
    • Poopalasundaram, Subathra;
    • Moore, Anthony T.;
    • Trump, Dorothy;
    • Hardcastle, Alison J.
    Publication type:
    Article
    12
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    Novel frameshift mutations in the RP2 gene and polymorphic variants.

    Published in:
    Human Mutation, 2000, v. 15, n. 6, p. 580, doi. 10.1002/1098-1004(200006)15:6<580::AID-HUMU15>3.0.CO;2-3
    By:
    • Thiselton, Dawn L.;
    • Zito, Ilaria;
    • Plant, Catherine;
    • Jay, Marcelle;
    • Hodgson, Shirley V.;
    • Bird, Alan C.;
    • Bhattacharya, Shomi S.;
    • Hardcastle, Alison J.
    Publication type:
    Article
    14

    Novel mutations of the RPGR gene in RP3 families.

    Published in:
    Human Mutation, 2000, v. 15, n. 4, p. 386, doi. 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU23>3.0.CO;2-4
    By:
    • Zito, Ilaria;
    • Gorin, Michael B.;
    • Plant, Catherine;
    • Bird, Alan C.;
    • Bhattacharya, Shomi S.;
    • Hardcastle, Alison J.
    Publication type:
    Article
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    Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

    Published in:
    Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1469686
    By:
    • de Bruijn, Suzanne E.;
    • Panneman, Daan M.;
    • Weisschuh, Nicole;
    • Cadena, Elizabeth L.;
    • Boonen, Erica G. M.;
    • Holtes, Lara K.;
    • Astuti, Galuh D. N.;
    • Cremers, Frans P. M.;
    • Leijsten, Nico;
    • Corominas, Jordi;
    • Gilissen, Christian;
    • Skowronska, Anna;
    • Woodley, Jessica;
    • Beggs, Andrew D.;
    • Toulis, Vasileios;
    • Chen, Di;
    • Cheetham, Michael E.;
    • Hardcastle, Alison J.;
    • McLaren, Terri L.;
    • Lamey, Tina M.
    Publication type:
    Article
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    Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

    Published in:
    PLoS Genetics, 2024, v. 20, n. 5, p. 1, doi. 10.1371/journal.pgen.1011230
    By:
    • Bhattacharyya, Nihar;
    • Chai, Niuzheng;
    • Hafford-Tear, Nathaniel J.;
    • Sadan, Amanda N.;
    • Szabo, Anita;
    • Zarouchlioti, Christina;
    • Jedlickova, Jana;
    • Leung, Szi Kay;
    • Liao, Tianyi;
    • Dudakova, Lubica;
    • Skalicka, Pavlina;
    • Parekh, Mohit;
    • Moghul, Ismail;
    • Jeffries, Aaron R.;
    • Cheetham, Michael E.;
    • Muthusamy, Kirithika;
    • Hardcastle, Alison J.;
    • Pontikos, Nikolas;
    • Liskova, Petra;
    • Tuft, Stephen J.
    Publication type:
    Article
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    Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.

    Published in:
    JAMA Ophthalmology, 2025, v. 143, n. 4, p. 338, doi. 10.1001/jamaophthalmol.2025.0109
    By:
    • Liu, Siyin;
    • Sadan, Amanda N.;
    • Bhattacharyya, Nihar;
    • Zarouchlioti, Christina;
    • Szabo, Anita;
    • Abreu Costa, Marcos;
    • Hafford-Tear, Nathaniel J.;
    • Kladny, Anne-Marie S.;
    • Dudakova, Lubica;
    • Ciosi, Marc;
    • Moghul, Ismail;
    • Wilkins, Mark R.;
    • Allan, Bruce;
    • Skalicka, Pavlina;
    • Hardcastle, Alison J.;
    • Pontikos, Nikolas;
    • Bunce, Catey;
    • Monckton, Darren G.;
    • Muthusamy, Kirithika;
    • Liskova, Petra
    Publication type:
    Article
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    Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

    Published in:
    2017
    By:
    • Taylor, Rachel L.;
    • Arno, Gavin;
    • Poulter, James A.;
    • Khan, Kamron N.;
    • Morarji, Jiten;
    • Hull, Sarah;
    • Pontikos, Nikolas;
    • Martin, Antonio Rueda;
    • Smith, Katherine R.;
    • Ali, Manir;
    • Toomes, Carmel;
    • McKibbin, Martin;
    • Clayton-Smith, Jill;
    • Grunewald, Stephanie;
    • Michaelides, Michel;
    • Moore, Anthony T.;
    • Hardcastle, Alison J.;
    • Inglehearn, Chris F.;
    • Webster, Andrew R.;
    • Black, Graeme C.
    Publication type:
    journal article
    25

    Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

    Published in:
    2016
    By:
    • Arno, Gavin;
    • Holder, Graham E.;
    • Chakarova, Christina;
    • Kohl, Susanne;
    • Pontikos, Nikolas;
    • Fiorentino, Alessia;
    • Plagnol, Vincent;
    • Cheetham, Michael E.;
    • Hardcastle, Alison J.;
    • Webster, Andrew R.;
    • Michaelides, Michel;
    • UK Inherited Retinal Disease Consortium
    Publication type:
    journal article
    26

    Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 17, p. 3451, doi. 10.1093/hmg/ddx245
    By:
    • Schwarz, Nele;
    • Lane, Amelia;
    • Jovanovic, Katarina;
    • Parfitt, David A.;
    • Aguila, Monica;
    • Thompson, Clare L.;
    • da Cruz, Lyndon;
    • Coffey, Peter J.;
    • Chapple, J. Paul;
    • Hardcastle, Alison J.;
    • Cheetham, Michael E.
    Publication type:
    Article
    27

    Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 13, p. 2480, doi. 10.1093/hmg/ddx143
    By:
    • Schwarz, Nele;
    • Lane, Amelia;
    • Jovanovic, Katarina;
    • Parfitt, David A.;
    • Aguila, Monica;
    • Thompson, Clare L.;
    • da Cruz, Lyndon;
    • Coffey, Peter J.;
    • Chapple, J. Paul;
    • Hardcastle, Alison J.;
    • Cheetham, Michael E.
    Publication type:
    Article
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    Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

    Published in:
    Human Molecular Genetics, 2012, v. 21, n. 16, p. 3647, doi. 10.1093/hmg/dds194
    By:
    • Webb, Tom R.;
    • Parfitt, David A.;
    • Gardner, Jessica C.;
    • Martinez, Ariadna;
    • Bevilacqua, Dalila;
    • Davidson, Alice E.;
    • Zito, Ilaria;
    • Thiselton, Dawn L.;
    • Ressa, Jacob H.C.;
    • Apergi, Marina;
    • Schwarz, Nele;
    • Kanuga, Naheed;
    • Michaelides, Michel;
    • Cheetham, Michael E.;
    • Gorin, Michael B.;
    • Hardcastle, Alison J.
    Publication type:
    Article
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    X-linked cataract and Nance-Horan syndrome are allelic disorders.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 14, p. 2643, doi. 10.1093/hmg/ddp206
    By:
    • Coccia, Margherita;
    • Brooks, Simon P.;
    • Webb, Tom R.;
    • Christodoulou, Katja;
    • Wozniak, Izabella O.;
    • Murday, Victoria;
    • Balicki, Martha;
    • Yee, Harris A.;
    • Wangensteen, Teresia;
    • Riise, Ruth;
    • Saggar, Anand K.;
    • Park, Soo-Mi;
    • Kanuga, Naheed;
    • Francis, Peter J.;
    • Maher, Eamonn R.;
    • Moore, Anthony T.;
    • Russell-Eggitt, Isabelle M.;
    • Hardcastle, Alison J.
    Publication type:
    Article
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    Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.

    Published in:
    Acta Ophthalmologica (1755375X), 2023, v. 101, n. 6, p. 679, doi. 10.1111/aos.15654
    By:
    • Liu, Siyin;
    • Sadan, Amanda N.;
    • Muthusamy, Kirithika;
    • Zarouchlioti, Christina;
    • Jedlickova, Jana;
    • Pontikos, Nikolas;
    • Thaung, Caroline;
    • Hardcastle, Alison J.;
    • Netukova, Magdalena;
    • Skalicka, Pavlina;
    • Dudakova, Lubica;
    • Bunce, Catey;
    • Tuft, Stephen J.;
    • Davidson, Alice E.;
    • Liskova, Petra
    Publication type:
    Article
    40

    Novel disease‐causing variants and phenotypic features of X‐linked megalocornea.

    Published in:
    Acta Ophthalmologica (1755375X), 2022, v. 100, n. 4, p. 431, doi. 10.1111/aos.15022
    By:
    • Dudakova, Lubica;
    • Tuft, Stephen;
    • Cheong, Sek‐Shir;
    • Skalicka, Pavlina;
    • Jedlickova, Jana;
    • Fichtl, Marek;
    • Hlozanek, Martin;
    • Filous, Ales;
    • Vaneckova, Manuela;
    • Vincent, Andrea L.;
    • Hardcastle, Alison J.;
    • Davidson, Alice E.;
    • Liskova, Petra
    Publication type:
    Article
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    A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

    Published in:
    Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01784-0
    By:
    • Hardcastle, Alison J.;
    • Liskova, Petra;
    • Bykhovskaya, Yelena;
    • McComish, Bennet J.;
    • Davidson, Alice E.;
    • Inglehearn, Chris F.;
    • Li, Xiaohui;
    • Choquet, Hélène;
    • Habeeb, Mahmoud;
    • Lucas, Sionne E. M.;
    • Sahebjada, Srujana;
    • Pontikos, Nikolas;
    • Lopez, Karla E. Rojas;
    • Khawaja, Anthony P.;
    • Ali, Manir;
    • Dudakova, Lubica;
    • Skalicka, Pavlina;
    • Van Dooren, Bart T. H.;
    • Geerards, Annette J. M.;
    • Haudum, Christoph W.
    Publication type:
    Article
    43

    Control of spasticity in a multiple sclerosis model using central nervous system-excluded CB1 cannabinoid receptor agonists.

    Published in:
    FASEB Journal, 2014, v. 28, n. 1, p. 117, doi. 10.1096/fj.13-239442
    By:
    • Pryce, Gareth;
    • Visintin, Cristina;
    • Ramagopalan, Sreeram V.;
    • Al-Izki, Sarah;
    • De Faveri, Lia E.;
    • Nuamah, Rosamond A.;
    • Mein, Charles A.;
    • Montpetit, Alexandre;
    • Hardcastle, Alison J.;
    • Kooij, Gijs;
    • de Vries, Helga E.;
    • Amor, Sandra;
    • Thomas, Sarah A.;
    • Ledent, Catherine;
    • Marsicano, Giovanni;
    • Thompson, Alan J.;
    • Selwood, David L.;
    • Giovannoni, Gavin;
    • Baker, David;
    • Lutz, Beat
    Publication type:
    Article