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■ Abbreviation / Long Form : CRB1 / Crumbs homologue 1

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Total Number of Papers: 51
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Abbreviation:   CRB1  (>> Co-occurring Abbreviation)
Long Form:   Crumbs homologue 1
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No. Year Title Co-occurring Abbreviation
2020 CRB1rd8 mutation influences the age-related macular degeneration phenotype of NRF2 knockout mice and favors choroidal neovascularization. AMD, CNV, FLA, OCT, rd8
2020 Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene. iPS, PBMCs, qPCR, RP
2019 CRB2 Loss in Rod Photoreceptors Is Associated with Progressive Loss of Retinal Contrast Sensitivity. LCA, OKT, RP
2019 Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa. arRP, ERG, RP
2019 Loss of CRB2 in Muller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype. LCA, MGCs, NHP, RP
2019 Microglial Cell Dysfunction in CRB1-Associated Retinopathies. RP
2019 The Enigma of CRB1 and CRB1 Retinopathies. ---
2018 CRB2 in immature photoreceptors determines the superior-inferior symmetry of the developing retina to maintain retinal structure and function. ---
2017 Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families IRDs
10  2016 Defective Angiogenesis and Intraretinal Bleeding in Mouse Models With Disrupted Inner Retinal Lamination. ---
11  2016 Mthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice. FA, GCL, LCA, MTHFR, rd8, RP
12  2016 Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing. arRP, NGS, RP
13  2016 The Family of Crumbs Genes and Human Disease. Crb, CRB2, CRB3
14  2016 Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa. arRP, RP
15  2015 Gene therapy into photoreceptors and Muller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models. ---
16  2014 Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa. ---
17  2013 A case of CRB1-negative Coats-like retinitis pigmentosa. ---
18  2013 A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa. arRP, RP
19  2013 Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene. ---
20  2013 Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background. Crb, mTORC1
21  2013 Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations. AR, ERG, LCA, RP, SNP
22  2012 A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen. MFRP, SNP
23  2012 Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis. LCA, Pals1
24  2011 Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. RP
25  2011 Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations. LCA, SPATA7
26  2011 Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. ABCA4, arRP, MERTK, NR2E3, PDE6A, RP, RPGR, SNP
27  2011 PALS1 is essential for retinal pigment epithelium structure and neural retina stratification. ---
28  2010 GFAP-driven GFP expression in activated mouse Muller glial cells aligning retinal blood vessels following intravitreal injection of AAV2/6 vectors. CMV, GFAP, GFP, ILM
29  2010 Multiple domains in the Crumbs Homolog 2a (Crb2a) protein are required for regulating rod photoreceptor size. Crb, Crb2, Crb2a
30  2010 Targeted disruption of outer limiting membrane junctional proteins (Crb1 and ZO-1) increases integration of transplanted photoreceptor precursors into the adult wild-type and degenerating retina. OLM, ONL, si
31  2009 Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. AIPL1, CRX, GUCY2D, LCA, NPHP6, RDH12, RPE65, RPGRIP1
32  2008 Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis. DHPLC, LCA
33  2008 Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. RPE, USH
34  2007 A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1. OLM, Pttg1
35  2007 Crb1 is a determinant of retinal apical Muller glia cell features. ---
36  2007 Evidence for a molecular link between the tuberous sclerosis complex and the Crumbs complex. CRB 3, mTORC1, PI3K
37  2006 MPP3 is recruited to the MPP5 protein scaffold at the retinal outer limiting membrane. MPP, OLM
38  2006 Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells. LCA, MG, SAR
39  2006 Towards understanding CRUMBS function in retinal dystrophies. arLCA, arRP, crb
40  2005 Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis. CRB2, LCA, RP, RT-PCR
41  2005 MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. GST, LCA, MAGUK, MPP, OLM
42  2005 Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. PPCRA
43  2004 CRB1 mutation spectrum in inherited retinal dystrophies. LCA, PPRPE, RP
44  2004 Crumbs homologue 1 in polarity and blindness. ---
45  2004 Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure. Mupp1
46  2003 Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. ---
47  2002 Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain. ---
48  2002 The carboxyl terminus of zona occludens-3 binds and recruits a mammalian homologue of discs lost to tight junctions. PATJ, PDZ, ZO-3
49  2001 CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila. ---
50  2001 Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. LCA, PPRPE, RP
51  1999 Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Crb, RP, RPE, SSH