|
Rod-Cone Dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Exome sequencing of the proband's affected daughter uncovered a heterozygous <i>CRX</i> deletion [NM_000554.4: CRX: c.(100 + 1_101-1)_(c.900 + 1_?)del] that segregated with the disease.<b>Conclusion</b>: An unusual familial cone-rod dystrophy phenotype was associated with heterozygous <i>CRX</i> deletion, a pathogenic variant that had a presumed mechanism of haploinsufficiency.
|
31743059 |
2019 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report.
|
30095615 |
2018 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutant alleles of the CRX gene have been associated with autosomal dominant Leber congenital amaurosis (LCA) and cone-rod dystrophy.
|
24001014 |
2015 |
|
Rod-Cone Dystrophy
|
0.200 |
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 |
|
Rod-Cone Dystrophy
|
0.200 |
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 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This is in accordance with the theory that ataxin-7 interacts with CRX transcription, since it is known that mutations in the CRX gene cause cone-rod dystrophy.
|
19172503 |
2009 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
|
18653602 |
2008 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A 615delC mutation in the CRX gene was identified and found to cosegregate with cone-rod dystrophy.
|
15531334 |
2004 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous Arg41Trp mutation in the CRX gene can produce cone-rod dystrophy in Japanese patients.
|
12819982 |
2003 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
As an example, we discover an unannotated Tf_Otx Pfam domain on the cone rod homeobox protein, which suggests a possible mechanism for how the V242M mutation on this protein causes cone-rod dystrophy.
|
12668763 |
2003 |
|
Rod-Cone Dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.
|
11580893 |
2001 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two point mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodomain but outside the NLS did not disrupt the nuclear localization of Crx protein, but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in the fusion protein localized in both nuclei and cytoplasm in majority (51% to 69%) of the transfected cells.
|
10967037 |
2000 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The Ala196+1bp mutation was associated with an early-onset, severe form of cone-rod dystrophy similar to that described in the original CORD2 family (Evans et al., Arch Ophthalmol 1995;113:195-201).
|
10916183 |
2000 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the retinal-expressed gene CRX (cone-rod homeobox gene) have been associated with dominant cone-rod dystrophy and with de novo Leber congenital amaurosis.
|
9792858 |
1998 |
|
Rod-Cone Dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.
|
9390563 |
1997 |
|
Rod-Cone Dystrophy
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|