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Mutation-Independent Therapies for Retinal Diseases: Focus on Gene-Based Approaches

Frontiers in neuroscience, 2020-09, Vol.14, p.588234-588234

2020

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Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

Ophthalmology (Rochester, Minn.), 2013-06, Vol.120 (6), p.1283-1291

2013

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Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data

BMC genomics, 2023-04, Vol.24 (1), p.206-206, Article 206

2023

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RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy

Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.1-257, Article 257

2021

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Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study

International journal of molecular sciences, 2021-02, Vol.22 (4), p.1681

2021

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Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

International journal of molecular sciences, 2021-07, Vol.22 (13), p.7207

2021

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Integration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner ear

PloS one, 2011-04, Vol.6 (4), p.e18195-e18195

2011

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A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.223-223, Article 223

2023

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Pax6 regulates gene expression in the vertebrate lens through miR-204

PLoS genetics, 2013-03, Vol.9 (3), p.e1003357-e1003357

2013

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Pax6 is required for normal cell-cycle exit and the differentiation kinetics of retinal progenitor cells

PloS one, 2013-09, Vol.8 (9), p.e76489-e76489

2013

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miR‐181a/b downregulation: a mutation‐independent therapeutic approach for inherited retinal diseases

EMBO molecular medicine, 2022-11, Vol.14 (11), p.e15941-n/a

2022

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Mutations in MFSD8 , Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

Ophthalmology (Rochester, Minn.), 2015, Vol.122 (1), p.170-179

2015

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Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa

PloS one, 2014-03, Vol.9 (3), p.e92479-e92479

2014

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Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

Genes, 2017-10, Vol.8 (10), p.280

2017

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A novel computational strategy to identify A-to-I RNA editing sites by RNA-Seq data: de novo detection in human spinal cord tissue

PloS one, 2012-09, Vol.7 (9), p.e44184-e44184

2012

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Dual regulation of the lin-14 target mRNA by the lin-4 miRNA

PloS one, 2013-09, Vol.8 (9), p.e75475-e75475

2013

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Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Diagnostics (Basel), 2021-07, Vol.11 (7), p.1218

2021

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Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

PloS one, 2012-08, Vol.7 (8), p.e43799-e43799

2012

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The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.16-16, Article 16

2013

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An Autoregulatory Loop Directs the Tissue-Specific Expression of p63 through a Long-Range Evolutionarily Conserved Enhancer

Molecular and Cellular Biology, 2006-04, Vol.26 (8), p.3308-3318

2006

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Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e682-n/a

2019

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A 76-kb Duplicon Maps Close to the BCR Gene on Chromosome 22 and the ABL Gene on Chromosome 9: Possible Involvement in the Genesis of the Philadelphia Chromosome Translocation

Proceedings of the National Academy of Sciences - PNAS, 2002-07, Vol.99 (15), p.9882-9887

2002

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Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching

Nature genetics, 1996-06, Vol.13 (2), p.167-174

1996

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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Genetics in medicine, 2020-07, Vol.22 (7), p.1235-1246

2020

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Mutation-Independent Therapies for Retinal Diseases: Focus on Gene-Based Approaches

Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data

RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

Integration of transcriptomics, proteomics, and microRNA analyses reveals novel microRNA regulation of targets in the mammalian inner ear

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

Pax6 regulates gene expression in the vertebrate lens through miR-204

Pax6 is required for normal cell-cycle exit and the differentiation kinetics of retinal progenitor cells

miR‐181a/b downregulation: a mutation‐independent therapeutic approach for inherited retinal diseases

Mutations in MFSD8 , Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

A novel computational strategy to identify A-to-I RNA editing sites by RNA-Seq data: de novo detection in human spinal cord tissue

Dual regulation of the lin-14 target mRNA by the lin-4 miRNA

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

An Autoregulatory Loop Directs the Tissue-Specific Expression of p63 through a Long-Range Evolutionarily Conserved Enhancer

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

A 76-kb Duplicon Maps Close to the BCR Gene on Chromosome 22 and the ABL Gene on Chromosome 9: Possible Involvement in the Genesis of the Philadelphia Chromosome Translocation

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching

Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

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