X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability.
|
31071385 |
2019 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene and retinitis pigmentosa 2 (RP2) gene underlying X-linked retinitis pigmentosa (XLRP) and assess genotype-phenotype correlations.
|
27768226 |
2017 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An approximately 17Kb large deletion including the exon 4 and exon 5 of RP2 gene was found in an XLRP family.
|
28294154 |
2017 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.
|
27323122 |
2016 |
X-linked retinitis pigmentosa
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Using computational analysis, we revealed an extragenic tandem GAAA repeat 230-bp from the landmark CpG island of the human X-linked retinitis pigmentosa 2 RP2 promoter whose 5meCpG status correlates with XCI.
|
25078280 |
2014 |
X-linked retinitis pigmentosa
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
RPGR and RP2 genes expressed in the photoreceptor sensory cilia are predominantly implicated in XLRP; however, the interpretation of genetic mutations and their correlation with clinical phenotypes remain unknown, and the role of these genes in photoreceptor cilia function is not completely elucidated.
|
23443027 |
2013 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To identify mutations in the RPGR and RP2 genes from Chinese families with X-linked retinitis pigmentosa (XLRP).
|
20021257 |
2010 |
X-linked retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?
|
19702441 |
2009 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RP2 gene are linked to the second most frequent form of X-linked retinitis pigmentosa.
|
16457815 |
2006 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In agreement with the previous studies, we show that mutations in the RP2 gene and in the original 19 RPGR exons are detected in <10% and approximately 20% of XLRP probands, respectively.
|
11992260 |
2002 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.
|
11262649 |
2001 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.
|
11465545 |
2001 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It is concluded that the mutation of the RP2 gene also causes the X-linked retinitis pigmentosa in Japanese patients.
|
10634633 |
2000 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity.
|
11020419 |
2000 |
X-linked retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in RPGR and RP2 genes together account for approximately 33% of cases of XLRP in North America.
|
10937588 |
2000 |