Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease.

Barny, Iris; Perrault, Isabelle; Michel, Christel; Soussan, Mickael; Goudin, Nicolas; Rio, Marlène; Thomas, Sophie; Attié-Bitach, Tania; Hamel, Christian; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier

Barny, Iris; Perrault, Isabelle; Michel, Christel; Soussan, Mickael; Goudin, Nicolas; Rio, Marlène; Thomas, Sophie; Attié-Bitach, Tania; Hamel, Christian; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier.

Afiliação

Barny I; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
Perrault I; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
Michel C; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
Soussan M; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
Goudin N; Cell Imaging Core Facility of the Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Imagine and Paris Descartes University, Paris, France.
Rio M; Department of Genetics, IHU Necker-Enfants Malades, University Paris Descartes, Paris, France.
Thomas S; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France.
Attié-Bitach T; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, Paris, France.
Hamel C; Centre de Référence des Affections Sensorielles Génétiques, Institut des Neurosciences de Montpellier, CHU-Saint Eloi Montpellier, Montpellier, France.
Dollfus H; Centre de Référence pour les Affections Génétiques Ophtalmologiques CARGO, CHRU Strasbourg, INSERM 1112, Université de Strasbourg, Strasbourg, France.
Kaplan J; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
Rozet JM; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.
Gerard X; Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases.

Hum Mol Genet ; 27(15): 2689-2702, 2018 08 01.

Article em En | MEDLINE | ID: mdl-29771326

Assuntos

Antígenos de Neoplasias/genética; Antígenos de Neoplasias/metabolismo; Proteínas de Neoplasias/genética; Proteínas de Neoplasias/metabolismo; Doenças Retinianas/genética; Adolescente; Adulto; Autoantígenos/metabolismo; Proteínas de Ciclo Celular/metabolismo; Centrossomo/metabolismo; Criança; Cílios/fisiologia; Códon sem Sentido; Códon de Terminação; Proteínas do Citoesqueleto; Éxons; Proteínas do Olho/metabolismo; Feminino; Fibroblastos/fisiologia; Humanos; Masculino; Mutação; Transporte Proteico; Splicing de RNA; Doenças Retinianas/etiologia; Doenças Retinianas/patologia; Proteínas Supressoras de Tumor/metabolismo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Antígenos de Neoplasias / Proteínas de Neoplasias Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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