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Fine-tuning FAM161A gene augmentation therapy to restore retinal function.
- Published in:
- EMBO Molecular Medicine, 2024, v. 16, n. 4, p. 805, doi. 10.1038/s44321-024-00053-x
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- Publication type:
- 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.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 3541, doi. 10.3390/ijms23073541
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- Publication type:
- 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.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9331, doi. 10.3390/ijms22179331
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- Publication type:
- Article
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca<sup>2+</sup>-Dependent Cyclic GMP Synthesis.
- Published in:
- Frontiers in Molecular Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnmol.2018.00348
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- Publication type:
- Article
Dichotomy of single-nucleotide polymorphism haplotypes in olfactory receptor genes and pseudogenes.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 221, doi. 10.1038/79957
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- Publication type:
- Article
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
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- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0314-2
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- Publication type:
- Article
Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051566
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- Publication type:
- Article
Genome Dynamics, Evolution, and Protein Modeling in the Olfactory Receptor Gene Superfamily<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1998, v. 855, n. 1, p. 182, doi. 10.1111/j.1749-6632.1998.tb10564.x
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- Publication type:
- Article
An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.
- Published in:
- Human Genetics, 2010, v. 128, n. 3, p. 261, doi. 10.1007/s00439-010-0846-z
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- Publication type:
- Article
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 367, doi. 10.3390/biom14030367
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- Publication type:
- Article
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia.
- Published in:
- Molecular Therapy, 2015, v. 23, n. 9, p. 1423, doi. 10.1038/mt.2015.114
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- Publication type:
- Article
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
- Published in:
- JAMA Ophthalmology, 2024, v. 142, n. 5, p. 463, doi. 10.1001/jamaophthalmol.2024.0660
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- Publication type:
- Article
Association Between Missense Mutations in the BBS2 Gene and Nonsyndromic Retinitis Pigmentosa.
- Published in:
- 2015
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- Journal Article
Association Between Missense Mutations in the BBS2 Gene and Nonsyndromic Retinitis Pigmentosa.
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 3, p. 312, doi. 10.1001/jamaophthalmol.2014.5251
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- Publication type:
- Article
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
- Published in:
- Molecular Vision, 2023, v. 29, p. 1
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- Publication type:
- Article
Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene.
- Published in:
- Molecular Vision, 2022, v. 28, p. 359
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- Publication type:
- Article
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.
- Published in:
- Molecular Vision, 2022, v. 28, p. 21
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- Publication type:
- Article
A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.
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- Molecular Vision, 2021, v. 27, p. 588
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- Publication type:
- Article
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
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- Molecular Vision, 2021, v. 27, p. 107
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- Publication type:
- Article
A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.
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- Molecular Vision, 2020, v. 26, p. 299
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- Publication type:
- Article
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.
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- Molecular Vision, 2019, v. 25, p. 155
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- Publication type:
- Article
A new mouse model for retinal degeneration due to Fam161a deficiency.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-81414-1
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- Publication type:
- Article
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72028-0
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- Publication type:
- Article
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 614, doi. 10.1093/hmg/ddx428
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- Publication type:
- Article
Amissense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2483, doi. 10.1093/hmg/ddw113
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- Publication type:
- Article
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 8, p. 1479, doi. 10.1093/hmg/ddw022
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- Publication type:
- Article
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 13, p. 3742, doi. 10.1093/hmg/ddv118
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- Publication type:
- Article
Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3359, doi. 10.1093/hmg/ddv085
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- Publication type:
- Article
FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 23, p. 5174, doi. 10.1093/hmg/dds368
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- Publication type:
- Article
The combination of whole‐exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, n. 6, p. e877, doi. 10.1111/aos.14095
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- Publication type:
- Article
Knockdown of Dehydrodolichyl Diphosphate Synthase in the Drosophila Retina Leads to a Unique Pattern of Retinal Degeneration.
- Published in:
- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.693967
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- Publication type:
- Article
The olfactory receptor gene superfamily: data mining, classification, and nomenclature.
- Published in:
- Mammalian Genome, 2000, v. 11, n. 11, p. 1016, doi. 10.1007/s003350010196
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- Publication type:
- Article
Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies.
- Published in:
- European Journal of Ophthalmology, 2023, v. 33, n. 2, p. 1109, doi. 10.1177/11206721221136318
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- Publication type:
- Article
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
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- European Journal of Ophthalmology, 2021, v. 31, n. 6, p. 3349, doi. 10.1177/1120672120977343
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- Publication type:
- Article
Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy.
- Published in:
- Clinical Ophthalmology, 2019, v. 13, p. 465, doi. 10.2147/OPTH.S191486
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- Publication type:
- Article
Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 255, doi. 10.1002/humu.23920
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- Publication type:
- Article
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 140, doi. 10.1002/humu.23903
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- Publication type:
- 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 ALMS1 and DYSF.
- Published in:
- Human Mutation, 2015, v. 36, n. 9, p. 836, doi. 10.1002/humu.22822
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- Publication type:
- Article
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 5, p. 583, doi. 10.1093/hmg/12.5.583
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- Publication type:
- Article
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 10, p. 1219, doi. 10.1093/hmg/11.10.1219
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- Publication type:
- Article
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
- Published in:
- Genes, 2024, v. 15, n. 7, p. 926, doi. 10.3390/genes15070926
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- Publication type:
- Article
Genetic and Clinical Analyses of the KIZ -c.226C>T Variant Resulting in a Dual Mutational Mechanism.
- Published in:
- Genes, 2024, v. 15, n. 6, p. 804, doi. 10.3390/genes15060804
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- Publication type:
- Article
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
- Published in:
- Genes, 2024, v. 15, n. 5, p. 646, doi. 10.3390/genes15050646
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- Publication type:
- Article
Ultra-widefield fundus autofluorescence imaging in patients with autosomal recessive retinitis pigmentosa reveals a genotype–phenotype correlation.
- Published in:
- 2022
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- Publication type:
- Case Study
Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 2, p. 215, doi. 10.1007/s00417-015-3025-z
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- Publication type:
- Article
Microarray-based gene expression analysis during retinal maturation of albino rats.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2008, v. 246, n. 5, p. 693, doi. 10.1007/s00417-008-0772-0
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- Publication type:
- Article