Recombinant Human Crumbs homolog 1 (CRB1), partial

1. Several Crb mutant proteins accumulated abnormally in the rhabdomere and affected rhodopsin trafficking, suggesting that abnormal rhodopsin physiology contributes to Crb/CRB1-associated retinal degeneration. PMID: 28515229
2. Novel compound heterozygous mutations found in CRB1 were identified in a Chinese pedigree with Autosomal-recessive retinitis pigmentosa using targeted-capture next generation sequencing. PMID: 27806333
3. Retinal capillaritis, vitritis, and cystoid macular edema could be inflammatory features of CRB1 retinal dystrophy in our young patient. PMID: 28129017
4. In summary, mutations in CRB1 need to be considered as a potential cause of isolated maculopathy, particularly in cases where the central macular atrophy is associated with paracentral macular thickening and loss of normal lamination on OCT. PMID: 27096895
5. The traditional village therapy may have compromised retinal venous outflow and/or provoked a Valsalva phenomenon, leading to the bilateral retinal hemorrhages. The fact that this occurred bilaterally and in both sisters supports the concept of relative vessel wall incompetence as part of CRB1-related retinopathy. PMID: 27007588
6. Mutations in the CRB1 gene are associated with a spectrum of progressive retinal degeneration. Visual acuity survival analyses indicate that the optimal intervention window for subretinal gene therapy is within the first 2 to 3 decades of life. PMID: 28341475
7. This is the first report to implicate CRB1 as the underlying cause of FFR. This phenotype forms the mildest end of the spectrum of CRB1-related diseases. PMID: 27258436
8. The first study reporting on the molecular genetic cause of non-syndromic early-onset severe retinal dystrophy in Czech patients identified one homozygous and two compound heterozygote probands with CRB1 mutations. PMID: 27113771
9. We present the case of a child who presented during screening for uveitis associated with juvenile idiopathic arthritis with macular oedema and was found to have early onset retinal dystrophy and mutations in CRB1. PMID: 26914788
10. Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene. PMID: 26165328
11. CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients. PMID: 24512366
12. Comprehensive retinal dystrophy panel revealed a homozygous mutation in CRB1 (p.Pro836Thr:c.2506C>A) in both twins. PMID: 26312378
13. Removal of this side chain enhances the binding affinity by more than fivefold, suggesting that access of Crb to Pals1 may be regulated by intradomain contacts or by protein-protein interaction. PMID: 25760605
14. The phenotypic spectrum of recessive CRB1 mutation includes childhood cone-rod dystrophy with macular cystic degeneration and the associated ERG can be electronegative. PMID: 23767994
15. The phenotypes of these novel mutations for early-onset retinal dystrophy (EORD) are typical of CRB1-associated EORD PMID: 25323024
16. Study showed that CRB1 and CRB2 in human retinas have an opposite pattern of expression in Muller glia and photoreceptor cells compared with mouse retinas, and that Crb2 influences the severity of the murine Crb1-linked retinal dystrophies. PMID: 24565864
17. the mammalian apical CRB1 complex might control retinogenesis and prevents onset of Leber congenital amaurosis or retinitis pigmentosa. PMID: 24508727
18. Macular nummular pigmentation is a gene-specific indication for CRB1associated retinal dystrophy. PMID: 24535598
19. This report illustrates a novel presentation of a macular dystrophy caused by CRB1 mutations affecting 2 siblings exhibiting a relatively well-developed retinal structure and preservation of generalized retinal function. PMID: 24811962
20. The results from this study show that patients with Leber congenital amaurosis carry CRB1 null mutations more frequently than patients with retinitis pigmentosa. PMID: 24715753
21. We report a novel CRB1 mutation in inherited retinal dystrophy in a Lebanese family. PMID: 23362850
22. Mutations in CRB1 and ABCA4 were found in a Swedish family with Leber congenital amaurosis and Stargardt disease. PMID: 24664696
23. Four patients with Leber congenital amaurosis were homozygous for a novel mutation in the CRB1 gene, while of two cases with Stargardt disease, one was homozygous for c.5461-10T>C in the ABCA4 gene and another was carrier of the same mutation. PMID: 23443024
24. Retinal degenerations associated with nanophthalmos and hyperopia, or with keratoconus, can serve as further clinical cues to mutations in CRB1. PMID: 24138049
25. We report the case of a 15-year-old girl affected by CRB1 gene-negative retinitis pigmentosa and Coats-like exudative vasculopathy PMID: 23871396
26. R764H is a novel mutation associated with CRB1-related autosomal recessive retinitis pigmentosa. PMID: 23592920
27. study represents the most complete mutational screening of CRB1 in a Spanish LCA and EORP cohort, allowing us to establish gene-specific frequencies and to provide a wide spectrum of CRB1 mutations in the Spanish population PMID: 23379534
28. there is no clear genotype-phenotype correlation for CRB1 mutations, which suggests that other components of the CRB complex may influence the severity of retinal disease PMID: 23001562
29. we showed that mutations in CRB1 are a common cause of eary onset retinal degeneration among the Jewish and Arab-Muslim populations in Israel and the Palestinian Territories PMID: 23449718
30. A novel homozygous missense mutation (p.Gly833Asp) in the CRB1 gene is responsible for retinitis pigmentosa, nanophthalmos, and optic disc drusen in a Turkish family. PMID: 23077403
31. CRB1 (c.2548 G>A) is the likely disease-causing gene in one non-consanguineous Australian pedigree with autosomal recessive retinitis pigmentosa. PMID: 22876132
32. Mutation in CRB1 gene is associated with Stargardt Disease. PMID: 22863181
33. A review of seven novel mutations and classification of over 150 reported CRB1 sequence variants that were found in more that 240 patients with inherited retinal dystrophies. PMID: 22065545
34. Digenic and triallelic mutations of CRB1 and SPATA7 were detected in a Chinese family with Leber congenital amaurosis. The results imply that CRB1 and SPATA7 may not interact with each other directly. PMID: 22219627
35. CRB1 mutations lead to early-onset severe loss of vision with thickened, disorganized, nonseeing retina. Impaired peripheral vision can persist in late disease stages. PMID: 21757580
36. Mutations in CRB1 are associated with a range of recessively inherited retinal dystrophies, including Leber congenital amaurosis, childhood- and juvenile-onset rod-cone and cone-rod dystrophies. PMID: 20956273
37. The corneas of human carriers of CRB1 mutations display shape deviations compared with what has been observed in normal individuals PMID: 20805571
38. intracellular domain of CRB1 behaves similarly to its Drosophila counterpart when overexpressed in the fly eye PMID: 11850624
39. Mutation disrupting the cytoplasmic domain of CRB1 is associated with Leber congenital amaurosis in arabs PMID: 12567265
40. REVIEW--overview of the currently known CRB1 sequence variants and prediction of their effects: a genotype-phenotype correlation model for CRB1 mutations PMID: 15459956
41. The PPCRA (Pigmented paravenous chorioretinal atrophy) phenotype is associated with a Val162Met mutation in CRB1 which is likely to affect the structure of the CRB1 protein. PMID: 15623792
42. AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa PMID: 16272259
43. Microarray-based mutation detection allowed the identification of 32% of LCA sequence variants and represents an efficient first-pass screening tool. Mutations in CRB1, and to a lesser extent, in GUCY2D, underlie most LCA cases in this cohort PMID: 16505055
44. Mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amau PMID: 16543197
45. In human heterozygotes of CRB1 mutations (parents of offspring with Leber congenital amaurosis), distinctive regional retinal dysfunctions were found by multifocal ERG (electroretinography) measurements PMID: 16936081
46. overexpression of human CRB1 and related isoforms, CRB2 and CRB3, had no effect on the levels of presenilin complex components, on NCT maturation or on presenilin endoproteolysis PMID: 17988153
47. Two distinct retinal dystrophies with mutations affecting two different genes ABCA4 and CRB1 genes cosegregated in this family. PMID: 18334942
48. This study presents the case of a compound heterozygous fetus for two mutations in CRB1 (1q3.1-q32.2). PMID: 18682814
49. Although the results cannot exclude other gene mutations, they suggest that LCA patients with a CRB1 mutation may have a particular susceptibility to keratoconus. PMID: 19407021

显示更多

收起更多

HGNC: 2343

OMIM: 172870

KEGG: hsa:23418

STRING: 9606.ENSP00000356370

UniGene: Hs.126135