Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Retinoblastoma (RB) is a childhood eye tumor, caused by the RB1 gene mutation.
|
31781967 |
2020 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The der(X) region harboring the RB1 gene was inactivated in a subset of somatic cells, including the retinal cells, in the patient subject which acted as the first hit in the development of her retinoblastoma.
|
31806026 |
2019 |
Retinoblastoma
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Retinoblastoma (RB), which represents the most common childhood eye cancer, is caused by biallelic inactivation of RB1 gene.
|
30427563 |
2019 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The retinoblastoma RB1 gene has been identified in the 80s as the first tumor suppressor.
|
31176618 |
2019 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study might be an important report on emphazing the mutational status of other genes in patients without RB1 gene mutations and having high risk for developing Rb.
|
31207142 |
2019 |
Retinoblastoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Retinoblastoma (Rb) results from biallelic inactivation of the RB1 gene.
|
30031154 |
2019 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Retinoblastoma (RB) is a pediatric ocular cancer which is caused due to the aberrations in the RB1 gene.
|
29742327 |
2018 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Retinoblastoma (RB) is a pediatric intraocular tumor caused by mutations in retinoblastoma (RB1) gene.
|
29579639 |
2018 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is especially important for survivors of heritable cancers such as retinoblastoma (childhood eye cancer), where survivors who carry a germline mutation in the RB1 gene are at increased risk of second cancers in adulthood, and of passing on the disease risk to future offspring.
|
29379195 |
2018 |
Retinoblastoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
In human primary retinoblastoma, high expression of UHRF1 and XRCC4 could be detected, and elevated XRCC4 expression correlated with reduced apoptosis markers, implying that UHRF1-mediated XRCC4 upregulation under pathophysiological conditions triggered by RB1 gene inactivation may confer protection against endogenous DNA damages that arise during retinoblastoma development.
|
29415984 |
2018 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RB1 gene screening aids clinical management and genetic counselling in retinoblastoma families.
|
29851531 |
2018 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although RB1 gene mutation underlies the development of retinoblastoma and many other systemic cancers, RB1 gene mutation in a brain tumor is mainly limited to infiltrating gliomas.
|
30053065 |
2018 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
About 1/3 of retinoblastoma patients harbor a germline RB1 mutation or deletion, leading to the development of retinoblastoma.
|
29414415 |
2018 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Herein we are evaluating the oncogenic mutations in the RB1 gene and the inheritance patterns of RB in the Jordanian patients.
|
28803391 |
2018 |
Retinoblastoma
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Here, we show that SUV39H1-mediated H3K9 trimethylation facilitates retinoblastoma ( RB) 1 promoter CpG island methylation by interacting with DNA methyltransferase 3A and decreasing RB mRNA and protein in melanoma cells.
|
29750576 |
2018 |
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Together, our work provides a human pluripotent cell model for retinoblastoma and sheds light on developmental and tumorigenic roles of RB1.
|
28392220 |
2017 |
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
De novo mutational profile in RB1 clarified using a mutation rate modeling algorithm.
|
28193182 |
2017 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results establish that high MYCN amplification can be present in retinoblastoma with or without coding sequence mutations in the RB1 gene.
|
28211617 |
2017 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene.
|
28575107 |
2017 |
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.
|
28338660 |
2017 |
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.
|
29261756 |
2017 |
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.
|
28575107 |
2017 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling.
|
29261756 |
2017 |
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The C allele together with a germ-line RB1 gene mutation may speed retinoblastoma onset which suggests that mir-34b/c rs4938723T > C may represent a candidate biomarker for hereditary RB.
|
28106538 |
2017 |
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The pathogenesis of Rb1 gene inactivation indicates that gene therapy could be a promising treatment for retinoblastoma.
|
28713896 |
2017 |