|
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease.
|
31816026 |
2020 |
|
Sporadic Parkinson disease
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease.
|
31816026 |
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 |
|
Retinitis Pigmentosa
|
0.440 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
Chorioretinal atrophy
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Severe disease presented with widespread chorioretinal atrophy as shown by SW-FAF and spectral-domain OCT. Each of the identified genetic variants in CHM was predicted to be disease-causing according to in silico prediction software.
|
31181178 |
2019 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
SNCA Rep1 promoter variability influences cognition in Parkinson's disease.
|
31234238 |
2019 |
|
Parkinson Disease
|
0.100 |
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 |
|
Cerebrovascular accident
|
0.050 |
Biomarker
|
group |
BEFREE |
Hydroxyurea to lower TCD velocities and prevent primary stroke: the Uganda NOHARM sickle cell anemia cohort.
|
31649130 |
2019 |
|
Cerebrovascular accident
|
0.050 |
Biomarker
|
group |
BEFREE |
By using SVM classifier, TCD performance in stroke participants was also obtained (LF: accuracy = 74.8%, AUC = 0.90, F1 = 0.73; TR: accuracy = 67.1%, AUC = 0.85, F1 = 0.71; SE: accuracy = 91.3%, AUC = 0.98, F1 = 0.90).
|
31824250 |
2019 |
|
Cerebrovascular accident
|
0.050 |
Biomarker
|
group |
BEFREE |
In patients undergoing CEA under general anesthesia, adequate use of cerebral monitoring (EEG and transcranial Doppler [TCD]) has reduced the number of intraoperative stroke by detecting embolization and thereby guiding the surgeon to adjust his technique or to selectively shunt the carotid artery.
|
30827087 |
2019 |
|
Restless Legs Syndrome
|
0.030 |
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 |
|
Anemia, Sickle Cell
|
0.010 |
Biomarker
|
disease |
BEFREE |
Hydroxyurea to lower TCD velocities and prevent primary stroke: the Uganda NOHARM sickle cell anemia cohort.
|
31649130 |
2019 |
|
Asthma
|
0.010 |
Biomarker
|
disease |
BEFREE |
16 of 19 studies treated by CHM granules only showed positive result in patients with HBV, HCV, fever, depression, nonalcoholic fatty liver disease, AIDS, and asthma while negative result was shown in patients with migraine.
|
31110552 |
2019 |
|
Malignant neoplasm of breast
|
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 |
|
Chediak-Higashi Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
In addition, TCD is able to adequately identify and exclude patients at risk for CHS.
|
30827087 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.010 |
Biomarker
|
disease |
BEFREE |
Thus, CHM may help prevent T2DM-related complications in patients with PCOS.
|
31325604 |
2019 |
|
Foramen Ovale, Patent
|
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 |
|
Hydatidiform Mole
|
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 |