Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.

Huang, Di; Thompson, Jennifer A; Chen, Shang-Chih; Adams, Abbie; Pitout, Ianthe; Lima, Alanis; Zhang, Dan; Jeffery, Rachael C Heath; Attia, Mary S; McLaren, Terri L; Lamey, Tina M; De Roach, John N; McLenachan, Samuel; Aung-Htut, May Thandar; Fletcher, Sue; Wilton, Steve D; Chen, Fred K

Huang, Di; Thompson, Jennifer A; Chen, Shang-Chih; Adams, Abbie; Pitout, Ianthe; Lima, Alanis; Zhang, Dan; Jeffery, Rachael C Heath; Attia, Mary S; McLaren, Terri L; Lamey, Tina M; De Roach, John N; McLenachan, Samuel; Aung-Htut, May Thandar; Fletcher, Sue; Wilton, Steve D; Chen, Fred K.

Afiliação

Huang D; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
Chen SC; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
Adams A; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia.
Pitout I; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia.
Lima A; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia.
Zhang D; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
Jeffery RCH; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Royal Victorian Eye and Ear Hospital, Centre for Eye Research Australia, East
Attia MS; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia.
Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia.
De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia.
McLenachan S; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia.
Aung-Htut MT; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Australia.
Fletcher S; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Australia; PYC
Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia; Perron Institute for Neurological and Translational Science, Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Australia.
Chen FK; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia,

Exp Eye Res ; 225: 109276, 2022 12.

Article em En | MEDLINE | ID: mdl-36209838

Assuntos

Transportadores de Cassetes de Ligação de ATP; Doenças Retinianas; Humanos; Doença de Stargardt/genética; Íntrons/genética; Transportadores de Cassetes de Ligação de ATP/genética; Austrália; Éxons/genética; Mutação; Doenças Retinianas/genética; Fibroblastos; Linhagem

Palavras-chave

ABCA4 splice variants; In vitro splice assay; Molecular analysis; Patient-derived fibroblasts; Stargardt disease

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Transportadores de Cassetes de Ligação de ATP Limite: Humans País/Região como assunto: Oceania Idioma: En Revista: Exp Eye Res Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Austrália

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