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Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Liskova, Petra; Dudakova, Lubica; Evans, Cerys J; Rojas Lopez, Karla E; Pontikos, Nikolas; Athanasiou, Dimitra; Jama, Hodan; Sach, Josef; Skalicka, Pavlina; Stranecky, Viktor; Kmoch, Stanislav; Thaung, Caroline; Filipec, Martin; Cheetham, Michael E; Davidson, Alice E; Tuft, Stephen J; Hardcastle, Alison J.
Afiliação
  • Liskova P; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University and Gen
  • Dudakova L; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic.
  • Evans CJ; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Rojas Lopez KE; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Pontikos N; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Athanasiou D; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Jama H; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Sach J; Institute of Pathology, Third Faculty of Medicine, Charles University, Faculty Hospital Kralovske Vinohrady, Srobarova 50, Prague 100 34, Czech Republic.
  • Skalicka P; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University and Gen
  • Stranecky V; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic.
  • Kmoch S; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, Prague 128 08, Czech Republic.
  • Thaung C; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK.
  • Filipec M; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, Prague 128 08, Czech Republic.
  • Cheetham ME; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Davidson AE; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
  • Tuft SJ; Moorfields Eye Hospital, London EC1V 2PD, UK.
  • Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK. Electronic address: a.hardcastle@ucl.ac.uk.
Am J Hum Genet ; 102(3): 447-459, 2018 03 01.
Article em En | MEDLINE | ID: mdl-29499165
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Distrofias Hereditárias da Córnea / Proteínas de Ligação a DNA / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Distrofias Hereditárias da Córnea / Proteínas de Ligação a DNA / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article