|
Amaurosis congenita of Leber, type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
The double knockout mouse retinas mimicked a phenotype equivalent to a clinical LCA phenotype due to loss of CRB1.
|
30239717 |
2019 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Three patients had Leber Congenital Amaurosis (LCA) with mutations including CRB1, CEP290, and RPGRIP1.
|
27880076 |
2017 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The results from this study show that patients with LCA carry CRB1 null mutations more frequently than patients with RP.
|
24715753 |
2014 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
CRB1 is required for photoreceptor morphogenesis, and it has been associated with RP and LCA.
|
23362850 |
2014 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our data provide mechanistic insight for CRB1-related LCA and RP.
|
24565864 |
2014 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study reveals that 11% of Spanish patients carried mutations in CRB1, ranging from 9% of EORP to 14% of LCA cases.
|
23379534 |
2013 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, a null mutation on at least one of the two mutated CRB1 alleles results in the LCA diagnosis, whereas patients carrying missense mutations were diagnosed with either RP or LCA.
|
23449718 |
2013 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP).
|
22065545 |
2012 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The role of CRB1 in LCA8 pathogenesis remains elusive since Crb1 mouse mutants, including a null allele, have failed to mimic the early-onset of LCA, most likely due to functional compensation by closely related genes encoding Crb2 and Crb3.
|
22398208 |
2012 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In these Chinese patients, variants in GUCY2D are the most common cause of LCA (16.1% cases), followed by CRB1 (11.5%), RPGRIP1 (8%), RPE65 (5.7%), SPATA7 (4.6%), CEP290 (4.6%), CRX (3.4%), LCA5 (2.3%), MERTK (2.3%), AIPL1 (1.1%), and RDH12 (1.1%).
|
21602930 |
2011 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CRB1 are associated with a range of recessively inherited retinal dystrophies, including LCA, childhood- and juvenile-onset rod-cone and cone-rod dystrophies.
|
20956273 |
2011 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Digenic and triallelic mutations of CRB1 and SPATA7 were detected in a family with LCA.
|
22219627 |
2011 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sixteen patients with genotyped LCA (having the CRB1, CRX, RetGC, RPE65, and AIPL1 mutations) were recruited from one ophthalmology practice and examined for the presence of keratoconus.
|
19407021 |
2009 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Crumbs homologue 1 (CRB1; OMIM 600105) gene explain 10%-24% of cases with LCA depending on the population.
|
18682814 |
2008 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
CEP290 (15%), GUCY2D (12%), and CRB1 (10%) are the most frequently mutated LCA genes; one intronic CEP290 mutation (p.Cys998X) is found in approximately 20% of all LCA patients from north-western Europe, although this frequency is lower in other populations.
|
18632300 |
2008 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis using the LCA chip revealed the p.Cys948Tyr mutation in CRB1 in heterozygous state.
|
18334942 |
2008 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
The results differ from similarly studied RPE65-LCA and CRB1-LCA patients.
|
17306875 |
2007 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
CRB1 is the main gene responsible for LCA in the Spanish population.
|
18055816 |
2007 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CRB1, and to a lesser extent, in GUCY2D, underlie most LCA cases in this cohort.
|
16505055 |
2006 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Evidence suggests a modifier allele in AIPL1 in a patient with LCA with prominent atrophic macular lesions and homozygous defects in CRB1.
|
16936081 |
2006 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In addition, some CRB1 mutations can be associated with either RP or LCA.
|
16543197 |
2006 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Crumbs homolog 1 (CRB1) gene cause autosomal recessive retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA).
|
15851977 |
2005 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with preserved paraarteriolar retinal pigment epithelium (PPRPE), RP with Coats-like exudative vasculopathy, early onset RP without PPRPE, and Leber congenital amaurosis (LCA).
|
15459956 |
2004 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The LCA phenotype of another family (011LCA) in which the CRB1 locus was excluded, showed linkage with microsatellite markers D17S1294 and D17S796 on chromosome 17p13.1.
|
12573663 |
2003 |
|
Amaurosis congenita of Leber, type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
The molecular data for CRB1 and RPE65 support previous hypotheses that LCA can represent the severe end of a spectrum of retinal dystrophies.
|
12015276 |
2002 |