Nijmegen Breakage Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Overall, our data provide an unanticipated evidence of a close interaction between HP1 and NBS1 that is essential for genome stability and point up HP1α as a potential target to counteract chromosome instability in NBS patient cells.
|
31836699 |
2019 |
Nijmegen Breakage Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In the NBS condition, the SPC showed a reduced activation (NBS = 3.97%; NBS + LS = 4.49%; LS = 4.48%; ND = 4.61% of the maximal voluntary contraction) compared to the other conditions.
|
30608175 |
2019 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation.
|
30616142 |
2019 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recessive function-altering NBN variants typically cause Nijmegen breakage syndrome characterized by microcephaly, cancer predisposition, and immunodeficiency, none of which are evident in the patient.
|
29706645 |
2018 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nijmegen breakage syndrome 1 (NBS1), as a key protein in the DNA double-strand breaks (DSBs) repair pathway, plays an important role in maintaining genomic stability.
|
29433451 |
2018 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic characterization of hereditary breast cancer in a Chinese population.
|
29093764 |
2017 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analyses were performed and revealed a PDGFRB gene c.1681C>A missense heterozygous germline mutation, high PDGFRβ phosphokinase activity within the tumor and the heterozygous germline Slavic Nijmegen breakage syndrome 657del5 mutation in the NBN gene.
|
28183292 |
2017 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nijmegen breakage syndrome 1 (NBS1) is a component of MRE11/RAD50/NBS1 complex (MRN) that plays a critical role in the cellular response to DNA damage and maintenance of chromosomal integrity.
|
28476809 |
2017 |
Nijmegen Breakage Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our study demonstrates the utility of NBS-iPSCs as a screening platform for anti-oxidants capable of suppressing DNA damage and a cellular model for studying NBN de-regulation in cancer and microcephaly.
|
28790359 |
2017 |
Nijmegen Breakage Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Furthermore, Parkin is found to physically interact with NBS1 (Nijmegen breakage syndrome 1), and to be required for optimal recruitment of NBS1 and DNA polymerase eta (Polη) to UV-induced damage sites.
|
28430587 |
2017 |
Nijmegen Breakage Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Nbs1 is one of the genes responsible for Nijmegen breakage syndrome, which is marked with high radiosensitivity.
|
28107384 |
2017 |
Nijmegen Breakage Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We observed that the HCAR1 agonist dihydroxybenzoic acid (DHBA) up-regulated BRCA1 (breast cancer type 1 susceptibility protein) and NBS1 (Nijmegen breakage syndrome 1) expression in HeLa cells.
|
28258841 |
2017 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.
|
28374160 |
2017 |
Nijmegen Breakage Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The vast majority of patients with Nijmegen Breakage Syndrome (NBS) are of Slavic origin and carry a deleterious deletion (c.657del5; rs587776650) in the NBN gene on chromosome 8q21.
|
27936167 |
2016 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
|
26976419 |
2016 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nijmegen breakage syndrome (NBS) results from the absence of the NBS1 protein, responsible for detection of DNA double-strand breaks (DSBs).
|
27545893 |
2016 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.
|
26534844 |
2016 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
|
26976419 |
2016 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
|
26786923 |
2016 |
Nijmegen Breakage Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.
|
27443514 |
2016 |
Nijmegen Breakage Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We used here antisense oligonucleotides to enforce alternative splicing in NBS patient cells and efficiently generate the same internally deleted p80-nibrin protein.
|
26265251 |
2016 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In human NBS1, mutations result truncation of the N-terminus region, which contains a forkhead-associated (FHA) domain, cause Nijmegen breakage syndrome.
|
26990569 |
2016 |