|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In a multicentre clinical trial, six male patients (aged 35-63 years) with choroideremia were administered AAV.REP1 (0·6-1·0×10(10) genome particles, subfoveal injection).
|
24439297 |
2014 |
|
Choroideremia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
<i>CHM</i> is ubiquitously expressed in human cells and encodes Rab escort protein 1 (REP1).
|
29707603 |
2018 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.
|
29721931 |
2018 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Twelve males with clinically-diagnosed choroideremia and confirmed hemizygous mutations in the CHM gene were examined.
|
27936069 |
2016 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the Rep-1 gene supplemented with MLPA is therefore an important diagnostic strategy in choroideremia patients.
|
28774736 |
2017 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
REP-1 gene mutations in Japanese patients with choroideremia.
|
10447648 |
1999 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa.
|
26216097 |
2015 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
|
27820636 |
2016 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Aberrant splicing of the CHM gene is a significant cause of choroideremia.
|
1302003 |
1992 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
|
16087855 |
2005 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, subsequent analysis revealed that this change in CHM was polymorphic having no effect on REP-1 function.
|
17935254 |
2007 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Sustained improvement or maintenance of BCVA is achievable in choroideremia with high-dose AAV2-REP1, indicating BCVA is a viable primary outcome in advanced choroideremia.
|
30240725 |
2019 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the CHM gene causes severe choroideremia.
|
17698759 |
2007 |
|
Choroideremia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
However, the choroideremia (CHM) gene is expressed in all retinal layers, and a previous study on a small cohort of choroideremia patients suggested possible thinning of the retinal nerve fibre layer (RNFL).
|
30575280 |
2019 |
|
Choroideremia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Infection with AAV8.CBA.hCHM induced the expression of REP-1 protein in a dose-responsive fashion.
|
24962736 |
2015 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in REP1 cause a disease called choroideremia (CHM), which is an X-linked eye disease.
|
28055019 |
2017 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Peripheral cells from CHM patients expose characteristics that were not previously recognized and could used as an alternative models to study the effects of different mutations in the REP-1 gene on mechanism of CHM development in human population.
|
20027300 |
2009 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
|
28643494 |
2017 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Rab escort protein-1 (REP1) is linked to choroideremia (CHM), an X-linked degenerative disorder caused by mutations of the gene encoding REP1 (CHM).
|
28230863 |
2017 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We suggest that REP-2 substitutes for the absent function of REP-1 in nonretinal cells of patients with choroideremia, thus preventing cellular dysfunction throughout the body.
|
8294464 |
1994 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.
|
27329764 |
2016 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated the impact of the p.H507R amino acid change on REP1 structure and function, thus providing the first experimental demonstration that correlates a missense mutation in CHM with a functional impairment of REP1.
|
21905166 |
2011 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Choroideremia (CHM) is a rare inherited retinal degeneration resulting from mutation of the CHM gene, which results in absence of functional Rab escort protein 1 (REP1).
|
30308560 |
2020 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have previously identified a full-length L1 insertion in the CHM (choroideremia) gene of a patient with choroideremia, an X-linked progressive eye disease.
|
17483097 |
2007 |
|
Choroideremia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Delivery of the CHM cDNA to affected cells restores REP1 enzymatic activity and also restores proper protein trafficking.
|
23667438 |
2013 |