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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Phase 1 and 2 studies of AAV2-REP1 in patients with choroideremia have produced encouraging results, suggesting that it is possible not only to slow or stop the decline in vision following treatment with AAV2-REP1, but also to improve visual acuity in some patients.
|
30617669 |
2019 |
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To assess the safety and efficacy of retinal gene therapy with an adeno-associated virus vector (AAV2) designed to deliver a functional version of the CHM gene (AAV2-REP1) for treatment of patients with choroideremia.
|
31465092 |
2019 |
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Choroideremia is a monogenic X-linked recessive chorioretinal disease linked to pathogenic variants in the CHM gene.
|
30341801 |
2019 |
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC).
|
30689859 |
2019 |
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.
|
30995293 |
2019 |
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 |
In this paper, we reviewed the pathogenic effects of synonymous hotspot mutation in the CHM gene and the genotypic-phenotypic associations in families with CHM.
|
29555028 |
2018 |
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
We designed an adeno-associated viral vector to express REP1 and assessed it in a gene therapy clinical trial by subretinal injection in 14 patients with choroideremia.
|
30297895 |
2018 |
Choroideremia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
As gene therapy of choroideremia is becoming a clinical reality, there is a need for reliable and sensitive assays to determine the expression of exogenously delivered Rab Escort Protein-1 (REP1), in particular to test new gene therapy vectors and as a quality control screen for clinical vector stocks.
|
29188508 |
2018 |
Choroideremia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Despite ubiquitous expression of the CHM gene, the primary defect in choroideremia is driven by retinal pigment epithelium (RPE) and photoreceptors degeneration.
|
29932012 |
2018 |
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The CHM gene [choroideremia (Rab escort protein 1)] has been identified as the pathogenic gene in choroideremia.
|
29620233 |
2018 |
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
To assess the safety of a recombinant adeno-associated viral vector expressing REP1 (rAAV2.REP1) in choroideremia subjects.
|
29940166 |
2018 |
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The results confirm that AAV-mediated delivery of the REP1-encoding gene can rescue defects in CHM iPSC-RPE regardless of the type of disease-causing mutation.
|
29414605 |
2018 |
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations found in the RPGR and CHM genes cause retinitis pigmentosa (RP) and choroideremia, respectively.
|
29377744 |
2018 |
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 |
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 |
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 |
CHM encodes REP1, which plays a key role in the prenylation of Rab GTPases.
|
28911202 |
2017 |
Choroideremia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, the recovery of retinal structure and function over the first month following iatrogenic retinal detachment for the delivery of adeno-associated viral vector encoding Rab Escort Protein 1 is described as a part of gene therapy for choroideremia.
|
28152124 |
2017 |
Choroideremia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in CHM in two males with choroideremia.
|
28041643 |
2017 |