Retinitis Pigmentosa
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Retinitis Pigmentosa
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Retinitis Pigmentosa
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.
|
9427255 |
1997 |
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
|
9792858 |
1998 |
Retinitis Pigmentosa
|
0.800 |
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 |
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We summarize 18 mutations in the human CRX gene that have been associated with Leber congenital amaurosis (congenital retinal blindness), cone-rod degeneration, or retinitis pigmentosa.
|
11748842 |
2001 |
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
|
11139241 |
2001 |
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Upon screening 55 patients with Leber congenital amaurosis, 75 patients with cone-rod dystrophy, 13 with cone dystrophy, and 36 with recessive or isolate RP for changes in the CRX sequence, we found two patients with Leber congenital amaurosis who carried heterozygously one of two novel frameshift mutations.
|
11748859 |
2001 |
Retinitis Pigmentosa
|
0.800 |
Biomarker
|
disease |
BEFREE |
Since many of the genes known to cause retinitis pigmentosa are under CRX control in photoreceptors, IMPDH1 became a high-priority candidate for mutation screening.
|
11875050 |
2002 |
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The four major causative genes involved in the pathogenesis of CRDs are ABCA4 (which causes Stargardt disease and also 30 to 60% of autosomal recessive CRDs), CRX and GUCY2D (which are responsible for many reported cases of autosomal dominant CRDs), and RPGR (which causes about 2/3 of X-linked RP and also an undetermined percentage of X-linked CRDs).
|
17270046 |
2007 |
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To address this problem in the context of a genetically heterogeneous disease, retinitis pigmentosa (RP), we devised a candidate-gene prioritization strategy called cis-regulatory mapping that utilizes ChIP-seq data for the photoreceptor transcription factor CRX to rank candidate genes.
|
21835304 |
2011 |
Retinitis Pigmentosa
|
0.800 |
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 |
Retinitis Pigmentosa
|
0.800 |
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 |
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human CRX are associated with the dominant retinopathies Retinitis Pigmentosa (RP), Cone-Rod Dystrophy (CoRD) and Leber Congenital Amaurosis (LCA), with variable severity.
|
24516401 |
2014 |
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous and compound heterozygous null mutations in the CRX-regulated FAM161A gene of unknown function were identified as a cause for autosomal recessive RP (RP28) in patients from India, Germany, Israel, the Palestinian territories, and the USA.
|
24664697 |
2014 |
Retinitis Pigmentosa
|
0.800 |
Biomarker
|
disease |
BEFREE |
CRX may be mutated in three forms of human blindness; Leber congenital amaurosis (LCA), cone-rod degeneration (CRD) and retinitis pigmentosa (RP).
|
29568065 |
2018 |
Retinitis Pigmentosa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we identified numerous mutations in autosomal dominant (PRPF31, PRPH2, CRX) and X-linked (RPGR) RP genes in patients with sporadic RP.
|
30543658 |
2018 |