|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This was accompanied by normalisation of central retinal thickness on OCT.ConclusionsHerein we describe a reliable technique for subretinal gene therapy, which is currently used in clinical trials to treat choroideremia using an adeno-associated viral (AAV) vector encoding the CHM gene.
|
28820183 |
2017 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that the CHM promoter region should be examined in patients with CHM who lack coding sequence mutations, and reveals, for the first time, features of the gene's regulation.
|
28271586 |
2017 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A nonsense mutation (c.C799T:p.R267X) of the CHM gene on the X chromosome of the proband (IV:7) and another 5 males with choroideremia were detected, while 3 female carriers with no symptoms were also identified.
|
28098911 |
2017 |
|
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 |
The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.
|
27820636 |
2016 |
|
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 |
Novel CHM mutations identified in Chinese families with Choroideremia.
|
27739455 |
2016 |
|
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 |
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 |
Six previously reported and five novel CHM mutations were detected in 11 Australian families clinically diagnosed with choroideremia.
|
25912515 |
2015 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
In the present study, mutations in the CHM gene, which are known to associate with choroideremia, were identified in six of 157 families with retinitis pigmentosa by whole exome sequencing.
|
24913019 |
2014 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Immunoblot successfully detects the absence of REP-1 in a CHM patient.
|
24791138 |
2014 |
|
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 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
While likely an uncommon event, duplication within the CHM gene could be considered as an explanation for CHM cases in which no mutation is found by sequence analysis.
|
23273018 |
2013 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Human genetic defects resulting in the loss one of two REP isoforms REP-1, lead to underprenylation of RabGTPases that manifests in retinal degradation and blindness known as choroideremia.
|
24358126 |
2013 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Subretinal injections of AAV2/2-CBA-REP1 into CHM mouse retinas led to a significant increase in a- and b-wave of ERG responses in comparison to sham-injected eyes confirming that AAV2/2-CBA-REP1 is a promising vector suitable for choroideremia gene therapy in human clinical trials.
|
23756766 |
2013 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings demonstrate a novel CHM mutation that emphasizes severe posterior pole carrier phenotypes, age-related changes, and early choroideremia disease.
|
22965595 |
2012 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One previously reported and two novel Rep-1 mutations were detected in three Chinese patients with CHM.
|
22355242 |
2012 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
CHM is caused by mutations in the Rab Escort Protein 1 (REP-1) gene, which encodes a protein involved in vesicular trafficking.
|
22017263 |
2012 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
|
21905166 |
2011 |
|
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our findings expand the genotypic spectrum of CHM mutations associated with CHM and confirm the role of Rab escort protein-1 in the pathogenesis of CHM.
|
22025891 |
2011 |
|
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
|
21905166 |
2011 |
|
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 |