|
Polycystic Ovary Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, CHM may help prevent T2DM-related complications in patients with PCOS.
|
31325604 |
2019 |
|
Gilles de la Tourette syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Finally, possible genetic links between PD and RLS (the presence of allele 2 of the complex microsatellite repeat Rep1 within the α-synuclein gene promoter) and between Tourette syndrome and RLS (several variants in the <i>BTBD9</i> gene) have been reported in 2 case-control association studies, although these data, based on preliminary data with small sample sizes, need to be replicated in further studies.
|
31004074 |
2019 |
|
Diffuse Large B-Cell Lymphoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
This study retrospectively compared long-term outcomes of nonmyeloablative/reduced intensity conditioning (NMC/RIC) allogeneic hematopoietic cell transplantation (allo-HCT) from a haploidentical family donor (haplo-HCT) using posttransplant cyclophosphamide (PTCy) with those of matched sibling donor (MSD) and matched unrelated donor (MUD) with or without T-cell depletion (TCD+/TCD-) in patients with relapsed diffuse large B-cell lymphoma (DLBCL).
|
30723110 |
2019 |
|
Ostium secundum atrial septal defect
|
0.010 |
Biomarker
|
disease |
BEFREE |
When c-TTE and/or c-TCD were used, the rate of residual RLSs detected in patients who underwent PFO closure was 26.32%, which was significantly different than the rate detected using TEE (P < .05)c-TTE and c-TCD showed equivalent sensitivity in evaluating transcatheter closure of a PFO. c-TTE could be a more cost-effective and reliable method to detect the residual shunt after PFO closure.
|
30681631 |
2019 |
|
Breast Carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, the biological activity of CHM-04 was comparable to the standard EGFR inhibitor, AG1478 in increasing apoptosis and decreasing the migratory potential of triple-negative breast cancer cells as well as significantly lowering the mammosphere forming ability of breast cancer stem cells.
|
31710991 |
2019 |
|
Diffuse large B-cell lymphoma recurrent
|
0.010 |
Biomarker
|
disease |
BEFREE |
This study retrospectively compared long-term outcomes of nonmyeloablative/reduced intensity conditioning (NMC/RIC) allogeneic hematopoietic cell transplantation (allo-HCT) from a haploidentical family donor (haplo-HCT) using posttransplant cyclophosphamide (PTCy) with those of matched sibling donor (MSD) and matched unrelated donor (MUD) with or without T-cell depletion (TCD+/TCD-) in patients with relapsed diffuse large B-cell lymphoma (DLBCL).
|
30723110 |
2019 |
|
Photoreceptor degeneration
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the CHM gene leads to an absence of functional Rab escort protein 1 (REP1), which causes retinal pigment epithelium cell death and photoreceptor degeneration.
|
30617669 |
2019 |
|
PARKINSON DISEASE, LATE-ONSET
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Rep1 allele lengths were determined in 172 PD patients who were grouped into "long" and "short" carriers according to previous methods.
|
31234238 |
2019 |
|
HYDATIDIFORM MOLE, RECURRENT, 1
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Five cases of complete HM, diploid with 2 paternal genome sets (CHM;PP), 5 cases of partial HM, triploid with 2 paternal and 1 maternal genome sets (PHM;PPM), and 5 cases of non-HM, with diploid biparental genomes (non-HM;PM) were stained with p57 Abs: 57P06, EP183, KP10, and KP39.
|
31567274 |
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 |
|
Retinitis Pigmentosa
|
0.440 |
GeneticVariation
|
disease |
BEFREE |
Mutations found in the RPGR and CHM genes cause retinitis pigmentosa (RP) and choroideremia, respectively.
|
29377744 |
2018 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this study, we focus on the SSR termed Rep1, which was associated with Parkinson's disease (PD) and has been implicated in the cis-regulation of the PD-risk SNCA gene.
|
29730780 |
2018 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
<i>SNCA</i> Rep1 263 allele is associated with a worse cognitive outcome in PD.
|
29662465 |
2018 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found that the 265-, 269-, and 271-bp alleles of REP1 (using the nomenclature established by Xia et al.) increased the risk of PD (OR: 1.81, 1.05, 1.17; p: 0.0002, 0.003, 0.002) while the 267-bp allele decreased PD risk (OR: 0.86, p: <0.00001) when taking all populations into account.
|
29859327 |
2018 |
|
Blindness
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
It leads to progressive blindness due to deficiency of Rab-escort protein 1 (REP1).
|
30297895 |
2018 |
|
Restless Legs Syndrome
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Despite results of several recent case-control association studies which have suggested a possible contribution of heme-oxygenase 1 (HMOX1) rs2071746 and vitamin D3 receptor (VDR) rs731236 variants, or the presence of allele 2 of the complex microsatellite repeat Rep1 within the alpha-synuclein (SNCA) gene promoter in modifying the risk for RLS, these studies need to be replicated in further studies involving different populations.
|
29033051 |
2018 |