Leber Congenital Amaurosis

Faculty Opinions recommendation of CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.727229707.793540444 ◽

2017 ◽

Author(s):

Yousin Suh

Keyword(s):

Genome Editing ◽

Therapeutic Approach ◽

Leber Congenital Amaurosis

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Intravitreal Sepofarsen for Leber Congenital Amaurosis Type 10 (LCA10)

SSRN Electronic Journal ◽

10.2139/ssrn.3745122 ◽

2020 ◽

Author(s):

Stephen R. Russell ◽

Arlene V. Drack ◽

Artur V. Cideciyan ◽

Samuel G. Jacobson ◽

Bart P. Leroy ◽

...

Keyword(s):

Leber Congenital Amaurosis

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Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis

Journal of Genetics ◽

10.1007/s12041-021-01310-5 ◽

2021 ◽

Vol 100 (2) ◽

Author(s):

HADIA GUL ◽

ABDUL HALEEM SHAH ◽

RICARDO HARRIPAUL ◽

SUMRA WAJID ABBASI ◽

MUHAMMAD FAHEEM ◽

...

Keyword(s):

Exome Sequencing ◽

Missense Mutation ◽

Whole Exome Sequencing ◽

Homozygosity Mapping ◽

Pakistani Family ◽

Protein Modelling ◽

Leber Congenital Amaurosis ◽

Whole Exome

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Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis

Ophthalmic Genetics ◽

10.1080/13816810.2021.1938136 ◽

2021 ◽

pp. 1-8

Author(s):

Fabiana Louise Motta ◽

Rafael Filippelli-Silva ◽

Joao Paulo Kitajima ◽

Denise A. Batista ◽

Elizabeth S. Wohler ◽

...

Keyword(s):

Chromosome 1 ◽

Leber Congenital Amaurosis ◽

Uniparental Isodisomy

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DYNC2H1 variants cause Leber congenital amaurosis without syndromic features

Clinical Genetics ◽

10.1111/cge.13958 ◽

2021 ◽

Author(s):

Junwon Lee ◽

Hyunjoo Lee ◽

Young‐Mock Lee ◽

Helen J. Kuht ◽

Mervyn G. Thomas ◽

...

Keyword(s):

Leber Congenital Amaurosis

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445. Positive Responses in a Mouse Model of Leber Congenital Amaurosis after Treatment with Compacted DNA Nanoparticles

Molecular Therapy ◽

10.1016/s1525-0016(16)37886-8 ◽

2010 ◽

Vol 18 ◽

pp. S172-S173

Keyword(s):

Mouse Model ◽

Leber Congenital Amaurosis ◽

Dna Nanoparticles

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Mutations in the CRB1 Gene Cause Leber Congenital Amaurosis

Archives of Ophthalmology ◽

10.1001/archopht.119.3.415 ◽

2001 ◽

Vol 119 (3) ◽

pp. 415 ◽

Cited By ~ 131

Author(s):

Andrew J. Lotery

Keyword(s):

Leber Congenital Amaurosis

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RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.1010460107 ◽

2010 ◽

Vol 107 (49) ◽

pp. 21158-21163 ◽

Cited By ~ 56

Author(s):

S. Azadi ◽

L. L. Molday ◽

R. S. Molday

Keyword(s):

Guanylate Cyclase ◽

Photoreceptor Cells ◽

Leber Congenital Amaurosis

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Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration

Investigative Opthalmology & Visual Science ◽

10.1167/iovs.15-18167 ◽

2016 ◽

Vol 57 (3) ◽

pp. 1378 ◽

Cited By ~ 12

Author(s):

Anneke I. den Hollander

Keyword(s):

Macular Degeneration ◽

Precision Medicine ◽

Age Related Macular Degeneration ◽

Leber Congenital Amaurosis ◽

Age Related

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Deficiency of type 2 iodo‐ thyronine deiodinase reduces necroptosis activity and oxidative stress responses in retinas of Leber congenital amaurosis model mice

The FASEB Journal ◽

10.1096/fj.201800484rr ◽

2018 ◽

Vol 32 (11) ◽

pp. 6316-6329 ◽

Cited By ~ 3

Author(s):

Fan Yang ◽

Hongwei Ma ◽

Michael R. Butler ◽

Xi-Qin Ding

Keyword(s):

Oxidative Stress ◽

Stress Responses ◽

Leber Congenital Amaurosis ◽

Oxidative Stress Responses ◽

And Oxidative Stress

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