|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using dermal fibroblasts from a 6 year-old patient with autosomal dominant Leber Congenital Amaurosis (LCA) caused by the point mutation c.695delC (p.Pro232Argfs*139) in the CRX gene.
|
31247521 |
2019 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The blind children with LCA manifest severe retinal degeneration, a phenotype typical for CRX and LCA.
|
29568065 |
2018 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to analyze the CRX mutations in a cohort of Chinese patients with LCA or early-onset severe retinal dystrophy (EOSRD) and to provide the clinical features of these patients.
|
24001014 |
2015 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.
|
24093488 |
2015 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human CRX gene are associated with dominant inherited retinopathies Retinitis Pigmentosa (RP), Cone-Rod Dystrophy (CoRD), and Leber Congenital Amaurosis (LCA), of varying severity.
|
24888636 |
2014 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
R90W mice carry a substitution mutation in the CRX homeodomain, Arg90Trp, which is associated with dominant mild late-onset CoRD and recessive LCA.
|
24516401 |
2014 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Overall, 11 out of 30 LCA cases (36.6%) revealed pathogenic variations with the involvement of RPE65 (16.6%), GUCY2D (10%), RPGRIP1 (3.3%), AIPL1 (3.3%) and CRX & IQCB1 (3.3%).
|
24066033 |
2013 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cone-rod homeobox gene (CRX) are associated with cone-rod dystrophy (CORD), Leber congenital amaurosis (LCA), and, in rare cases, retinitis pigmentosa (RP).
|
22960069 |
2012 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
These observations suggest that some CRX-mediated LCA may result from effects beyond haploinsufficiency, such as the mutant protein interefering with other transcription factors' function.
|
20513135 |
2010 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel de novo mutation in CRX was found in a Japanese patient with LCA.
|
12208271 |
2002 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We identified two heterozygous variations in the CRX gene in two patients with LCA.
|
11449318 |
2001 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The R90W mutation of Crx found in LCA disrupts the nuclear transport of the mutant protein.
|
10967037 |
2000 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human CRX are associated with the retinal diseases, cone-rod dystrophy-2 (adCRD2; refs 3, 4, 5), retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), which all lead to loss of vision.
|
10581037 |
1999 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Finally, a third gene, CRX, implicated in photoreceptor development, has been suspected of causing a few cases of LCA.
|
10527670 |
1999 |
|
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutant alleles of the CRX gene have recently been associated with autosomal dominant cone-rod dystrophy (CORD) as well as dominant Leber congenital amaurosis (LCA).
|
9931337 |
1999 |