Avigail Beryozkin
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View article: Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report
Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report Open
Introduction: The purpose of this report was to highlight the clinical phenotype and imaging findings in a patient with an exclusively macular phenotype of non-syndromic MFSD8-related disease and to provide clinical evidence for pathogenic…
View article: Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population
Best Disease: Global Mutations Review, Genotype–Phenotype Correlation, and Prevalence Analysis in the Israeli Population Open
This study represents the largest cohort of patients with Best disease reported in Israel and globally. The prevalence in Israel is akin to that in Denmark but is lower than that in the United States. Critical conserved domains within the …
View article: Can Viruses Be Used to Make People Healthy?
Can Viruses Be Used to Make People Healthy? Open
Viruses are small particles that are so tiny they cannot be seen by a regular light microscope. However, viruses can be found almost anywhere you look. Viruses specialize in carrying genetic material into all kinds of cells, including huma…
View article: Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa
Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa Open
View article: An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of <i>CYP4V2</i> as the Cause of Bietti Crystalline Dystrophy
An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of <i>CYP4V2</i> as the Cause of Bietti Crystalline Dystrophy Open
This analysis is likely to have important implications for genetic counseling in each studied population and for developing clinical trials for potential BCD treatments.
View article: Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant
Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant Open
View article: Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A
Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A Open
Ataluren and Gentamicin are translational readthrough drugs (TRIDs) that induce premature termination codon (PTC) readthrough, resulting in the production of full-length proteins that usually harbor a single missense substitution. FAM161A …
View article: Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients Open
Purpose: RPGRIP1 encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutations in this gene cause ∼5% of Leber congenital amaurosis (LCA) worldwide, but are also associated with cone–rod dystrophy (CRD) and retiniti…
View article: Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy
Enhancer of Zeste Homolog 2 (EZH2) Contributes to Rod Photoreceptor Death Process in Several Forms of Retinal Degeneration and Its Activity Can Serve as a Biomarker for Therapy Efficacy Open
Inherited retinal dystrophies (IRD) are due to various gene mutations. Each mutated gene instigates a specific cell homeostasis disruption, leading to a modification in gene expression and retinal degeneration. We previously demonstrated t…
View article: Clinical characterization and genotype-phenotype correlation in RPGRIP1 patients with autosomal recessive early onset retinal degeneration
Clinical characterization and genotype-phenotype correlation in RPGRIP1 patients with autosomal recessive early onset retinal degeneration Open
View article: A new mouse model for retinal degeneration due to Fam161a deficiency
A new mouse model for retinal degeneration due to Fam161a deficiency Open
FAM161A mutations are the most common cause of inherited retinal degenerations in Israel. We generated a knockout (KO) mouse model, Fam161a tm1b/tm1b , lacking the major exon #3 which was replaced by a construct that include LacZ under the…
View article: Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations Open
View article: Subretinal and Intravitreal Delivery of the Photoreceptor-Specific AAV2-7m8-hGRK1-GFP Viral Vector in Mice
Subretinal and Intravitreal Delivery of the Photoreceptor-Specific AAV2-7m8-hGRK1-GFP Viral Vector in Mice Open
View article: Ataluren-mediated read-through of a nonsense mutation in FAM161A gene which causes retinitis pigmentosa
Ataluren-mediated read-through of a nonsense mutation in FAM161A gene which causes retinitis pigmentosa Open
View article: Clinical Characteristics of a Large Cohort of Patients with Retinitis Pigmentosa due to Biallelic FAM161A Mutations
Clinical Characteristics of a Large Cohort of Patients with Retinitis Pigmentosa due to Biallelic FAM161A Mutations Open
View article: Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma Open
View article: Generation and characterization of Fam161a Conditional Knockout mice
Generation and characterization of Fam161a Conditional Knockout mice Open
View article: Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual Open
This is the first report of the mutation spectrum of a known adRP gene in the Israeli and Palestinian populations, leading to the identification of seven previously reported mutations and one novel mutation. Our study shows that RHO mutati…
View article: Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies Open
View article: Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in<i>ALMS1</i>and<i>DYSF</i>
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in<i>ALMS1</i>and<i>DYSF</i> Open
Genetic analysis of clinical phenotypes in consanguineous families is complicated by coinheritance of large DNA regions carrying independent variants. Here, we characterized a family with early onset cone-rod dystrophy (CRD) and muscular d…