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 |
Bilateral Vestibulopathy
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
Cerebellar Dysmetria
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
|
30926972 |
2019 |
Cerebellar Dysmetria
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to investigate sequence alterations in the RFC gene in osteosarcoma tumor samples.
|
12576457 |
2003 |
Cerebellar Ataxia
|
0.330 |
Biomarker
|
phenotype |
BEFREE |
These data, along with an expansion carrier frequency of 0.7% in Europeans, implies that biallelic AAGGG expansion in RFC1 is a frequent cause of late-onset ataxia.
|
30926972 |
2019 |
Cerebellar Ataxia
|
0.330 |
GeneticVariation
|
phenotype |
BEFREE |
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
|
31028356 |
2019 |
Cerebellar Ataxia
|
0.330 |
GeneticVariation
|
phenotype |
BEFREE |
The recent discovery of a repeat expansion in the RFC1 gene in cerebellar ataxia, neuropathy, vestibular areflexia syndrome highlights the prevalence of late-onset recessive conditions which have historically been considered to cause early-onset disease.
|
31343428 |
2019 |
Cerebellar Ataxia
|
0.330 |
Biomarker
|
phenotype |
CTD_human |
These data, along with an expansion carrier frequency of 0.7% in Europeans, implies that biallelic AAGGG expansion in RFC1 is a frequent cause of late-onset ataxia.
|
30926972 |
2019 |
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 |
Hereditary Motor and Sensory Neuropathies
|
0.300 |
Biomarker
|
group |
CTD_human |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
|
30926972 |
2019 |
Adiadochokinesis
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
|
30926972 |
2019 |
Cerebellar Hemiataxia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
|
30926972 |
2019 |
Hypermetria (finding)
|
0.300 |
Biomarker
|
phenotype |
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 |
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 |
Colonic Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
Use of a novel genetic mouse model to investigate the role of folate in colitis-associated colon cancer.
|
18926688 |
2009 |
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 |
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 |