| Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study. | Quality of life in patients with CRB1-associated retinal dystrophies: A longitudinal study.
Karuntu JS, Nguyen XT, Talib M, van Schooneveld MJ, Wijnholds J, van Genderen MM, Schalij-Delfos NE, Klaver CCW, Meester-Smoor MA, van den Born LI, Hoyng CB, Thiadens AAHJ, Bergen AA, van Nispen RMA, Boon CJF. | 04/30/2024 |
| Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis. | Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
Daher A, Banjak M, Noureldine J, Nehme J, El Shamieh S., Free PMC Article | 04/22/2024 |
| Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina. | Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.
Stehle IF, Imventarza JA, Woerz F, Hoffmann F, Boldt K, Beyer T, Quinn PM, Ueffing M., Free PMC Article | 04/8/2024 |
| A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility. | A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.
Sylla MM, Kolesinkova M, da Costa BL, Maumenee IH, Tsang SH, Quinn PMJ., Free PMC Article | 11/14/2023 |
| Foveal Hypoplasia in CRB1-Related Retinopathies. | Foveal Hypoplasia in CRB1-Related Retinopathies.
Rodriguez-Martinez AC, Higgins BE, Tailor-Hamblin V, Malka S, Cheloni R, Collins AM, Bladen J, Henderson R, Moosajee M., Free PMC Article | 09/30/2023 |
| CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids. | CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
Buck TM, Quinn PMJ, Pellissier LP, Mulder AA, Jongejan A, Lu X, Boon N, Koot D, Almushattat H, Arendzen CH, Vos RM, Bradley EJ, Freund C, Mikkers HMM, Boon CJF, Moerland PD, Baas F, Koster AJ, Neefjes J, Berlin I, Jost CR, Wijnholds J., Free PMC Article | 09/15/2023 |
| CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. | CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M., Free PMC Article | 01/28/2023 |
| A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review. | A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.
Duan W, Zhou T, Jiang H, Zhang M, Hu M, Zhang L., Free PMC Article | 10/8/2022 |
| CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up. | CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up.
Talib M, Van Cauwenbergh C, De Zaeytijd J, Van Wynsberghe D, De Baere E, Boon CJF, Leroy BP. | 05/7/2022 |
| In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention. | In Silico Analysis of Pathogenic CRB1 Single Nucleotide Variants and Their Amenability to Base Editing as a Potential Lead for Therapeutic Intervention.
Bellingrath JS, McClements ME, Kaukonen M, Fischer MD, MacLaren RE., Free PMC Article | 02/19/2022 |
| Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. | Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L, Ouyang W, Zhang M, Wang H, Li S, Meng X, Yin ZQ. | 01/29/2022 |
| CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Muller Cell and Photoreceptor CRB1 Isoforms. | CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Mairot K, Smirnov V, Bocquet B, Labesse G, Arndt C, Defoort-Dhellemmes S, Zanlonghi X, Hamroun D, Denis D, Picot MC, David T, Grunewald O, Pégart M, Huguet H, Roux AF, Kalatzis V, Dhaenens CM, Meunier I., Free PMC Article | 12/25/2021 |
| Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes. | Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
Bouzidi A, Charif M, Bouzidi A, Amalou G, Kandil M, Barakat A, Lenaers G., Free PMC Article | 11/6/2021 |
| Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing. | Identifying haplotypes in recessive inherited retinal dystrophies using whole-genome linked-read sequencing.
Repo P, Järvinen RS, Sankila EM, Paavo M, Ellonen P, Kivelä TT, Turunen JA. | 10/2/2021 |
| CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency. | CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
Grudzinska Pechhacker MK, Di Scipio M, Vig A, Tumber A, Roslin N, Tavares E, Vincent A, Hèon E. | 06/26/2021 |
| Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. | Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Sallum JMF, Motta FL, Arno G, Porto FBO, Resende RG, Belfort R Jr. | 06/5/2021 |
| Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations. | Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.
Wang Y, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q. | 04/17/2021 |
| DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1. | DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1.
Alsulaiman HM, Schatz P, Nowilaty SR, Abdelkader E, Abu Safieh L. | 02/6/2021 |
| Data show that crumbs homolog 2 protein (CRB2) protein precedes the expression of crumbs homologue 1 protein (CRB1) in the developing retina. | Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5.
Quinn PM, Buck TM, Mulder AA, Ohonin C, Alves CH, Vos RM, Bialecka M, van Herwaarden T, van Dijk EHC, Talib M, Freund C, Mikkers HMM, Hoeben RC, Goumans MJ, Boon CJF, Koster AJ, Chuva de Sousa Lopes SM, Jost CR, Wijnholds J., Free PMC Article | 05/2/2020 |
| Mutation in the CRB1 gene is associated with X-linked retinoschisis. | Overlapping retinal phenotypes in a consanguineous family harboring mutations in CRB1 and RS1.
Khan AO, El-Ghrably IA. | 04/4/2020 |
| This study reported two CRB1 mutations causing autosomal recessive retinitis pigmentosa (arRP) in two Chinese families, which expands the CRB1 mutation spectrum of RP in the Chinese population and emphasizes the causative role of CRB1 in RP. | Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
Guo X, Li J, Wang Q, Shu Y, Wang J, Chen L, Zhang H, Shi Y, Yang J, Lu F, Jiang L, Qu C, Gong B. | 01/18/2020 |
| novel pathogenic variants (p.Glu703*, c.2128+1G>A and p.Ser758SerfsX33) in CRB1 gene, were detected. | CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum.
Saberi M, Golchehre Z, Karamzade A, Entezam M, Eshaghkhani Y, Alavinejad E, Khojasteh Jafari H, Keramatipour M., Free PMC Article | 12/14/2019 |
| CRB1 mutations may be a rare cause of foveal schisis which progressively evolves in atrophic maculopathy and the clinician should be aware of this unusual macular phenotype. | Long-term follow-up of a CRB1-associated maculopathy.
Mucciolo DP, Murro V, Giorgio D, Passerini I, Sodi A, Virgili G, Rizzo S. | 03/30/2019 |
| our data suggested there was a direct relation between phenotype severity and the mutation effect on protein functionality in 15 Brazilian CRB1 patients. | The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
Motta FL, Salles MV, Costa KA, Filippelli-Silva R, Martin RP, Sallum JMF., Free PMC Article | 03/16/2019 |
| The clinical findings are much milder than those observed with bi-allelic, loss-of-function variants in CRB1, suggesting this in-frame deletion acts as a hypomorphic allele. This is the most prevalent disease-causing CRB1 variant identified in the non-Asian population to date. | A clinical and molecular characterisation of CRB1-associated maculopathy.
Khan KN, Robson A, Mahroo OAR, Arno G, Inglehearn CF, Armengol M, Waseem N, Holder GE, Carss KJ, Raymond LF, Webster AR, Moore AT, McKibbin M, van Genderen MM, Poulter JA, Michaelides M, UK Inherited Retinal Disease Consortium., Free PMC Article | 02/16/2019 |