|
Bilateral Vestibulopathy
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
|
Bilateral Vestibulopathy
|
0.410 |
Biomarker
|
disease |
CTD_human |
We used non-parametric linkage analysis and genome sequencing to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist.
|
30926972 |
2019 |
|
Bilateral Vestibulopathy
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
We used non-parametric linkage analysis and genome sequencing to identify a biallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene as the cause of familial CANVAS and a frequent cause of late-onset ataxia, particularly if sensory neuronopathy and bilateral vestibular areflexia coexist.
|
30926972 |
2019 |
|
Osteosarcoma
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Acquired alterations of the RFC gene have been associated with resistance to MTX in cancer cell lines and primary osteosarcomas.
|
18028428 |
2008 |
|
Osteosarcoma
|
0.340 |
Biomarker
|
disease |
BEFREE |
Further analyses of DHFR, MLL, MYC, and RFC gene status in four additional human OS cell lines revealed that only gain of DHFR and MLL were associated with an inherent lower sensitivity to MTX.
|
14582536 |
2003 |
|
Osteosarcoma
|
0.340 |
Biomarker
|
disease |
CTD_human |
Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression.
|
19159907 |
2009 |
|
Osteosarcoma
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to investigate sequence alterations in the RFC gene in osteosarcoma tumor samples.
|
12576457 |
2003 |
|
Osteosarcoma
|
0.340 |
Biomarker
|
disease |
BEFREE |
To evaluate the impact of dihydrofolate reductase (DHFR) and reduced folate carrier (RFC) genes on methotrexate (MTX) resistance in osteosarcoma cells in relation to retinoblastoma (RB1) gene status.
|
14679136 |
2004 |
|
Alcoholic Intoxication, Chronic
|
0.300 |
Biomarker
|
disease |
PSYGENET |
Antibodies against RFC protein revealed a parallel change in RFC expression in both brush border and BLM surfaces during chronic alcoholism.
|
18008023 |
2007 |
|
Malignant tumor of colon
|
0.300 |
Biomarker
|
disease |
CTD_human |
Use of a novel genetic mouse model to investigate the role of folate in colitis-associated colon cancer.
|
18926688 |
2009 |
|
Dejerine-Sottas Disease (disorder)
|
0.300 |
Biomarker
|
disease |
CTD_human |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
|
30926972 |
2019 |
|
Hereditary, Type VII, Motor and Sensory Neuropathy
|
0.300 |
Biomarker
|
disease |
CTD_human |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
|
30926972 |
2019 |
|
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
|
30926972 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The CANVAS Program (Canagliflozin Cardiovascular Assessment Study) randomly assigned 10 142 participants with type 2 diabetes mellitus to canagliflozin or placebo.
|
29133604 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of the present study was to investigate the generalizability of CVOTs on SGLT2i to Italian adults with T2DM; we estimated the proportions of this patient population who would be eligible for enrollment in EMPA-REG OUTCOME (empagliflozin), CANVAS (canagliflozin), DECLARE-TIMI 58 (dapagliflozin), and VERTIS-CV (ertugliflozin) studies.
|
31410779 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
Biomarker
|
disease |
BEFREE |
The EMPA-REG, CANVAS, and DECLARE-TIMI 58 studies revealed that SGLT2 inhibitors reduce the risk of cardiovascular events and concomitantly suggested that these drugs slow the progression of kidney disease in type 2 diabetes.
|
31725011 |
2020 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
Biomarker
|
disease |
BEFREE |
The CANVAS Program randomized 10 142 participants with type 2 diabetes and eGFR >30 mL/min/1.73 m<sup>2</sup> to canagliflozin or placebo.
|
29941478 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Sodium-glucose co-transporter (SGLT)-2 inhibitors have been shown to reduce the risk of cardiovascular death and heart failure (HF) hospitalization in patients with type 2 diabetes mellitus (DM) and high cardiovascular risk in two large clinical outcome trials: empagliflozin in EMPA-REG OUTCOME and canagliflozin in CANVAS.
|
31747132 |
2020 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, the SGLT2 inhibitors empagliflozin and canagliflozin reduced the risk of composite cardiovascular events in high-risk individuals with T2DM in the EMPA-REG OUTCOME trial and the CANVAS Program, respectively.
|
29196150 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
Biomarker
|
disease |
BEFREE |
To assess the eligibility of patients participating in DISCOVER (a 3-year, prospective, observational study program of 15 992 patients with type 2 diabetes [T2D] initiating a second-line glucose-lowering therapy across 38 countries) for four cardiovascular outcomes trials (CVOTs) of sodium-glucose cotransporter 2 inhibitors (CANagliflozin cardioVascular Assessment Study [CANVAS], Dapagliflozin effect on CardiovascuLAR Events trial [DECLARE-TIMI 58], EMPAgliflozin cardiovascular OUTCOME event trial [EMPA-REG OUTCOME], and eValuation of ERTugliflozin effIcacy and Safety CardioVascular outcomes trial [VERTIS-CV]).
|
31114700 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The CANVAS Program (Canagliflozin Cardiovascular Assessment Study) enrolled 10 142 participants with type 2 diabetes mellitus and high cardiovascular risk.
|
29526832 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
Biomarker
|
disease |
BEFREE |
Canagliflozin reduced the risk of heart failure among patients with type 2 diabetes in the CANVAS Program.
|
31676303 |
2020 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Weighted analysis of these data was used to estimate the percentage of US adults with T2D who met the eligibility criteria for the CANVAS program (CANagliflozin cardioVascular Assessment Study) (canagliflozin; NCT01032629, NCT01989754), and the DECLARE-TIMI 58 (dapagliflozin; NCT01730534), EMPA-REG OUTCOME (empagliflozin; NCT01131676), and VERTIS-CV (ertugliflozin; NCT01986881) trials.
|
29693360 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Economic modelling of costs associated with outcomes reported for type 2 diabetes mellitus (T2DM) patients in the CANVAS and EMPA-REG cardiovascular outcomes trials.
|
30575426 |
2019 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
Biomarker
|
disease |
BEFREE |
The report combines the data from two trials, CANVAS and CANVAS-Renal, which were designed to evaluate the safety and effect of canagliflozin, an SGLT-2 inhibitor, on the appearance of cardiovascular and renal events in patients with type 2 diabetes.
|
29297732 |
2018 |