Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have investigated the latter possibility by studying the in vivo SHM pattern in B cells from ataxia-telangiectasia-like disorder (Mre11 deficient) and Nijmegen breakage syndrome (NBS1 deficient) patients.
|
18575580 |
2008 |
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 |
Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome.
|
12621246 |
2003 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with an immunodeficiency in the course of Nijmegen breakage syndrome (NBS) that is caused by mutations in the NBN/NBS1 gene are prone to recurrent infections and malignancies, due to a defective DNA double-strand breaks repair mechanism.
|
22851427 |
2012 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The rare diseases ataxia-telangiectasia (AT), caused by mutations in the ATM gene, and Nijmegen breakage syndrome (NBS), with mutations in the p95/nbs1 gene, share a variety of phenotypic abnormalities such as chromosomal instability, radiation sensitivity and defects in cell-cycle checkpoints in response to ionizing radiation.
|
10766245 |
2000 |
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 |
Recently, it was demonstrated that mutations in the NBS1 gene are responsible for NBS.
|
11093281 |
2000 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Ataxia-Telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic diseases with similar cellular phenotypes that are caused by mutations in the recently described ATM (encoding ATM) and NBS1 (encoding p95) genes, respectively.
|
11981817 |
2002 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
NBN gene mutations cause increased tumor risk in Nijmegen breakage syndrome (NBS) homozygotes as well as in NBN heterozygotes.
|
19908051 |
2010 |
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 |
The Nijmegen breakage syndrome (NBS) is a genetic disorder caused by mutations in NBN gene and characterized by chromosomal instability and hypersensitivity to ionizing radiations (IR).
|
22941933 |
2012 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nijmegen breakage syndrome 1 (NBS1) protein is one of the key proteins that participates in recognition and repair of DSBs in humans.
|
16714331 |
2006 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated the association of urinary bladder cancer with genetic polymorphisms in the xeroderma pigmentosum complementation group C (XPC), group D (XPD) and group G (XPG), X-ray repair cross-complementing group 1 (XRCC1) and group 3 (XRCC3), Nijmegen breakage syndrome 1 (NBS1), cyclin D1, methylene-tetrahydrofolate reductase (MTHFR), NAD(P)H dehydrogenase quinone 1 (NQO1), H-ras and glutathione S-transferase theta 1 (GSTT1) genes.
|
14688016 |
2004 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.
|
10852373 |
2000 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nijmegen breakage syndrome 1 (NBS1), a vital DNA repair protein in the homologous recombination repair pathway and a signal modifier in the intra-S phase checkpoint, plays a critical role in cellular response to DNA damages and the maintenance of genomic stability.
|
23381647 |
2013 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Regulation of the Nijmegen breakage syndrome 1 gene NBS1 by c-myc, p53 and coactivators mediates estrogen protection from DNA damage in breast cancer cells.
|
23291854 |
2013 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
The impaired apoptosis response to DNA damage in NBS1 deficient cells might be one of the important mechanisms of cancer predisposition in NBS patients.
|
17537595 |
2007 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with a NBS clinical phenotype, chromosomal sensitivity to X-rays but without mutations in the whole NBS1 or in the Cernunnos gene.
|
17395558 |
2007 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The chromosomal instability disorder Nijmegen Breakage Syndrome (NBS) is caused by germ line mutations in the NBS1 gene.
|
14738145 |
2003 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nibrin (NBN), located on chromosome 8q21 is a gene involved in DNA double-strand break repair that has been implicated in the rare autosomal recessive chromosomal instability syndrome known as Nijmegen Breakage Syndrome (NBS).
|
22864661 |
2012 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nijmegen breakage syndrome (NBS) cells stably transfected with an empty vector or with S343A-NBS1 or S278A/S343A phospho-mutants were unable to hyperphosphorylate RPA in DNA-damage-associated foci following HU treatment.
|
18003706 |
2007 |
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 |
The NBS1 protein is specifically mutated in patients with Nijmegen breakage syndrome and forms a complex with the DNA repair proteins Rad50 and Mrel1.
|
10839544 |
2000 |
Nijmegen Breakage Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively.
|
19409520 |
2009 |