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Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 and CNGA3

• Authors : Syne Qua Non Limited; EMAS Pharma

• Source: Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3 and

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Safety and Efficacy of rAAV.hCNGA3 Gene Therapy in Patients With CNGA3-linked Achromatopsia (Colourbridge)

• Authors : University Hospital Tuebingen; Ludwig-Maximilians - University of Munich

• Source: Safety and Efficacy of a Bilateral Single Subretinal Injection of rAAV.hCNGA3 in Adult and Minor Patients With CNGA3-linked Achromatopsia Investigated in a Randomized,

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High-Efficiency CRISPR/Cas9-Mediated Correction of a Homozygous Mutation in Achromatopsia-Patient-Derived iPSCs.

• Authors : Siles L; Fundació de Recerca de l'Institut de Microcirurgia Ocular, 08035 Barcelona, Spain.; Departament de Genètica, IMO Grupo Miranza, 08035 Barcelona, Spain.

Subjects: Color Vision Defects*/Color Vision Defects*/Color Vision Defects*/genetics ; Color Vision Defects*/Color Vision Defects*/Color Vision Defects*/therapy ; CRISPR-Cas Systems* Achromatopsia 3

• Source: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 11; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 11.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Structural and functional characterization of an achromatopsia-associated mutation in a phototransduction channel.

• Authors : Zheng X; Department of Biological Sciences, Columbia University, New York, NY, 10027, USA.; Li H

Subjects: Color Vision Defects*/Color Vision Defects*/Color Vision Defects*/genetics ; Color Vision Defects*/Color Vision Defects*/Color Vision Defects*/metabolism ; Color Vision Defects*/Color Vision Defects*/Color Vision Defects*/pathology

• Source: Communications biology [Commun Biol] 2022 Mar 01; Vol. 5 (1), pp. 190. Date of Electronic Publication: 2022 Mar 01.Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN:

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Natural History Study for Achromatopsia

• Source: Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials

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Gene Therapy for Achromatopsia (CNGB3) (CNGB3)

• Authors : Janssen Research & Development, LLC

• Source: An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3) for Gene Therapy of Adults and Children With

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Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions.

• Authors : Righetti G; Center for Ophthalmology, University Eye Hospital, University of Tübingen, 72076 Tübingen, Germany.; Kempf M

Subjects: Action Potentials*; Color Vision Defects/Color Vision Defects/Color Vision Defects/*pathology ; Electroretinography/Electroretinography/Electroretinography/*methods Achromatopsia 3

• Source: International journal of molecular sciences [Int J Mol Sci] 2021 Nov 24; Vol. 22 (23). Date of Electronic Publication: 2021 Nov 24.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.

• Authors : Häfliger IM; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.; Marchionatti E

Subjects: Alleles* ; Mutation, Missense*; Color Vision Defects/Color Vision Defects/Color Vision Defects/*genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2021 Nov 18; Vol. 22 (22). Date of Electronic Publication: 2021 Nov 18.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Mouse Models of Achromatopsia in Addressing Temporal "Point of No Return" in Gene-Therapy.

• Authors : Wang NK; Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York, NY 10032, USA.; Liu PK

Subjects: Disease Models, Animal* ; Gene Editing* ; Mutation*Achromatopsia 3

• Source: International journal of molecular sciences [Int J Mol Sci] 2021 Jul 28; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 28.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3 -Associated Autosomal Recessive Achromatopsia.

• Authors : Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, 72076 Tübingen, Germany.; Baumann B

Subjects: Fathers* ; Mutation* ; Uniparental Disomy*Achromatopsia 3

• Source: International journal of molecular sciences [Int J Mol Sci] 2021 Jul 22; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 22.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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