<i>CRB1</i>-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor <i>CRB1</i> Isoforms.

Mairot, Kévin; Smirnov, Vasily; Bocquet, Béatrice; Labesse, Gilles; Arndt, Carl; Defoort-Dhellemmes, Sabine; Zanlonghi, Xavier; Hamroun, Dalil; Denis, Danièle; Picot, Marie-Christine; David, Thierry; Grunewald, Olivier; Pégart, Mako; Huguet, Hélèna; Roux, Anne-Françoise; Kalatzis, Vasiliki; Dhaenens, Claire-Marie; Meunier, Isabelle

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Mairot, Kévin; Smirnov, Vasily; Bocquet, Béatrice; Labesse, Gilles; Arndt, Carl; Defoort-Dhellemmes, Sabine; Zanlonghi, Xavier; Hamroun, Dalil; Denis, Danièle; Picot, Marie-Christine; David, Thierry; Grunewald, Olivier; Pégart, Mako; Huguet, Hélèna; Roux, Anne-Françoise; Kalatzis, Vasiliki; Dhaenens, Claire-Marie; Meunier, Isabelle.

Afiliação

Mairot K; Department of Ophthalmology, University North Hospital of Marseille, Sensgene Care Network, 13915 Marseille, France.
Smirnov V; Department of Visual Exploration and Neuro-Ophthalmology, Robert Salengro Hospital, Sensgene Care Network, 59045 Lille, France.
Bocquet B; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, 34000 Montpellier, France.
Labesse G; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, 34000 Montpellier, France.
Arndt C; Structural Biochemistry Centre, University of Montpellier, INSERM, CNRS, 34000 Montpellier, France.
Defoort-Dhellemmes S; Department of Ophthalmology, Reims University Hospital, 51000 Reims, France.
Zanlonghi X; Department of Visual Exploration and Neuro-Ophthalmology, Robert Salengro Hospital, Sensgene Care Network, 59045 Lille, France.
Hamroun D; Department of Ophthalmology, Rennes University Hospital, 35000 Rennes, France.
Denis D; Department of Research and Innovation, University of Montpellier, Montpellier University Hospital, 34000 Montpellier, France.
Picot MC; Department of Ophthalmology, University North Hospital of Marseille, Sensgene Care Network, 13915 Marseille, France.
David T; Clinical Investigation Center (CIC), Clinical Research and Epidemiology Unit (URCE), University of Montpellier, 34000 Montpellier, France.
Grunewald O; Department of Ophthalmology, University North Hospital of Marseille, Sensgene Care Network, 13915 Marseille, France.
Pégart M; Inserm, Lille University Hospital, U1172-LilNCog-Lille Neuroscience and Cognition, University of Lille, 59045 Lille, France.
Huguet H; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, 34000 Montpellier, France.
Roux AF; Clinical Investigation Center (CIC), Clinical Research and Epidemiology Unit (URCE), University of Montpellier, 34000 Montpellier, France.
Kalatzis V; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, 34000 Montpellier, France.
Dhaenens CM; Molecular Genetics Laboratory, University of Montpellier, Montpellier University Hospital, 34000 Montpellier, France.
Meunier I; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, 34000 Montpellier, France.

Int J Mol Sci ; 22(23)2021 Nov 23.

Article em En | MEDLINE | ID: mdl-34884448

Assuntos

Células Ependimogliais/patologia; Proteínas do Olho/genética; Proteínas do Olho/metabolismo; Degeneração Macular/patologia; Proteínas de Membrana/genética; Proteínas de Membrana/metabolismo; Mutação; Proteínas do Tecido Nervoso/genética; Proteínas do Tecido Nervoso/metabolismo; Distrofias Retinianas/patologia; Retinose Pigmentar/patologia; Adolescente; Idade de Início; Processamento Alternativo; Criança; Pré-Escolar; Células Ependimogliais/metabolismo; Proteínas do Olho/química; Feminino; Estudos de Associação Genética; Humanos; Lactente; Degeneração Macular/genética; Degeneração Macular/metabolismo; Masculino; Proteínas de Membrana/química; Modelos Moleculares; Mutação de Sentido Incorreto; Proteínas do Tecido Nervoso/química; Mutação Puntual; Distrofias Retinianas/genética; Distrofias Retinianas/metabolismo; Retinose Pigmentar/genética; Retinose Pigmentar/metabolismo; Estudos Retrospectivos; Deleção de Sequência; Adulto Jovem

Palavras-chave

CRB1; Leber congenital amaurosis; Müller cells; early onset retinal dystrophy; isoforms; macular dystrophy; pathogenic variant; photoreceptors; rod-cone dystrophy; spectral domain optical coherence tomography

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho / Distrofias Retinianas / Células Ependimogliais / Degeneração Macular / Proteínas de Membrana / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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