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Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.
Allen, Edwin H A; Courtney, David G; Atkinson, Sarah D; Moore, Johnny E; Mairs, Laura; Poulsen, Ebbe Toftgaard; Schiroli, Davide; Maurizi, Eleonora; Cole, Christian; Hickerson, Robyn P; James, John; Murgatroyd, Helen; Smith, Frances J D; MacEwen, Carrie; Enghild, Jan J; Nesbit, M Andrew; Leslie Pedrioli, Deena M; McLean, W H Irwin; Moore, C B Tara.
Afiliação
  • Allen EH; School of Biomedical Sciences, University of Ulster, Coleraine BT52 1SA, Northern Ireland, UK, Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Scotland DD1 5EH, UK.
  • Courtney DG; School of Biomedical Sciences, University of Ulster, Coleraine BT52 1SA, Northern Ireland, UK.
  • Atkinson SD; School of Biomedical Sciences, University of Ulster, Coleraine BT52 1SA, Northern Ireland, UK.
  • Moore JE; School of Biomedical Sciences, University of Ulster, Coleraine BT52 1SA, Northern Ireland, UK, Cathedral Eye Clinic, Academy Street, Belfast BT15 1ED, UK.
  • Mairs L; School of Biomedical Sciences, University of Ulster, Coleraine BT52 1SA, Northern Ireland, UK.
  • Poulsen ET; Department of Molecular Biology and Genetics.
  • Schiroli D; School of Biomedical Sciences, University of Ulster, Coleraine BT52 1SA, Northern Ireland, UK.
  • Maurizi E; School of Biomedical Sciences, University of Ulster, Coleraine BT52 1SA, Northern Ireland, UK.
  • Cole C; Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Scotland DD1 5EH, UK.
  • Hickerson RP; Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Scotland DD1 5EH, UK.
  • James J; Microscopy Facility, College of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.
  • Murgatroyd H; Department of Ophthalmology, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
  • Smith FJ; Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Scotland DD1 5EH, UK.
  • MacEwen C; Department of Ophthalmology, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
  • Enghild JJ; Department of Molecular Biology and Genetics, Interdisciplinary Nanoscience Center (iNANO) and Center for Insoluble Protein Structures (inSPIN), Science Park, Aarhus University, Aarhus, Denmark and.
  • Nesbit MA; School of Biomedical Sciences, University of Ulster, Coleraine BT52 1SA, Northern Ireland, UK.
  • Leslie Pedrioli DM; Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Scotland DD1 5EH, UK.
  • McLean WH; Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Scotland DD1 5EH, UK, t.moore@ulster.ac.uk w.h.i.mclean@dundee.ac.uk.
  • Moore CB; School of Biomedical Sciences, University of Ulster, Coleraine BT52 1SA, Northern Ireland, UK, t.moore@ulster.ac.uk w.h.i.mclean@dundee.ac.uk.
Hum Mol Genet ; 25(6): 1176-91, 2016 Mar 15.
Article em En | MEDLINE | ID: mdl-26758872

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Distrofia Corneana Epitelial Juvenil de Meesmann / Queratina-12 / Queratina-3 Limite: Adult / Animals / Female / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Distrofia Corneana Epitelial Juvenil de Meesmann / Queratina-12 / Queratina-3 Limite: Adult / Animals / Female / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido