PubMed (RefSeq) for id: 767908874

Year	Number of Results
1993	3
1994	1
1996	1
1999	2
2000	1
2001	4
2002	4
2003	3
2004	4
2005	3
2006	5
2007	4
2008	2
2009	3
2010	5
2011	7
2012	5
2013	10
2014	10
2015	5
2016	7
2017	7
2018	4
2019	5
2020	7
2021	9
2022	4
2023	7
2024	3

1

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. Daher A, et al. BMC Ophthalmol. 2024 Apr 15;24(1):167. doi: 10.1186/s12886-024-03419-4. BMC Ophthalmol. 2024. PMID: 38622537 Free PMC article.

2

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. Stehle IF, et al. Life Sci Alliance. 2024 Apr 3;7(6):e202302440. doi: 10.26508/lsa.202302440. Print 2024 Jun. Life Sci Alliance. 2024. PMID: 38570189 Free PMC article.

3

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. Sylla MM, et al. Doc Ophthalmol. 2023 Dec;147(3):217-224. doi: 10.1007/s10633-023-09951-w. Epub 2023 Oct 7. Doc Ophthalmol. 2023. PMID: 37804373

4

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. Rodriguez-Martinez AC, et al. Int J Mol Sci. 2023 Sep 11;24(18):13932. doi: 10.3390/ijms241813932. Int J Mol Sci. 2023. PMID: 37762234 Free PMC article.

5

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. Karuntu JS, et al. Acta Ophthalmol. 2024 Jun;102(4):469-477. doi: 10.1111/aos.15769. Epub 2023 Sep 25. Acta Ophthalmol. 2024. PMID: 37749859

6

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. Buck TM, et al. Stem Cell Reports. 2023 Sep 12;18(9):1793-1810. doi: 10.1016/j.stemcr.2023.07.001. Epub 2023 Aug 3. Stem Cell Reports. 2023. PMID: 37541258 Free PMC article.

7

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. Duan W, et al. BMC Med Genomics. 2022 Sep 17;15(1):197. doi: 10.1186/s12920-022-01356-z. BMC Med Genomics. 2022. PMID: 36115989 Free PMC article. Review.

8

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. Daich Varela M, et al. Am J Ophthalmol. 2023 Feb;246:107-121. doi: 10.1016/j.ajo.2022.09.002. Epub 2022 Sep 12. Am J Ophthalmol. 2023. PMID: 36099972 Free PMC article.

9

Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB.

Li FL, Wu Z, Gao YQ, Bowling FZ, Franklin JM, Hu C, Suhandynata RT, Frohman MA, Airola MV, Zhou H, Guan KL. Li FL, et al. EMBO J. 2022 Sep 1;41(17):e110698. doi: 10.15252/embj.2022110698. Epub 2022 Jul 17. EMBO J. 2022. PMID: 35844135 Free PMC article.

10

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. Bellingrath JS, et al. Genes (Basel). 2021 Nov 27;12(12):1908. doi: 10.3390/genes12121908. Genes (Basel). 2021. PMID: 34946856 Free PMC article.

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