The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome. (Q37027197)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18066092%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

review article

1 reference

title

The clinical manifestation of a defective response to DNA double-strand breaks as exemplified by Nijmegen breakage syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18066092%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18066092%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

author name string

Digweed M

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18066092%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

language of work or name

English

0 references

publication date

1 December 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18066092%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18066092%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

volume

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18066092%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

issue

56

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18066092%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

7792-7798

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18066092%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.onc.1210876

29 December 2019

exact match

0 references

cites work

NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Overexpression of NBS1 contributes to transformation through the activation of phosphatidylinositol 3-kinase/Akt

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

The Mre11 complex influences DNA repair, synapsis, and crossing over in murine meiosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

NBS1 is a prostate cancer susceptibility gene.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skin.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Distinct domains in Nbs1 regulate irradiation-induced checkpoints and apoptosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

An essential function for NBS1 in the prevention of ataxia and cerebellar defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

ATM-dependent phosphorylation of nibrin in response to radiation exposure

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Germline 657del5 mutation in the NBS1 gene in breast cancer patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Nibrin functions in Ig class-switch recombination

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Cerebral developmental disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Positional cloning of the gene for Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Molecular genetic analysis of NBS1 in German melanoma patients.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Selective utilization of nonhomologous end-joining and homologous recombination DNA repair pathways during nervous system development

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Tumor suppressor genetics

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Radiosensitization of head/neck squamous cell carcinoma by adenovirus-mediated expression of the Nbs1 protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

An increased risk for malignant neoplasms in heterozygotes for a syndrome of microcephaly, normal intelligence, growth retardation, remarkable facies, immunodeficiency and chromosomal instability.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Nbs1 is required for ATR-dependent phosphorylation events

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

p73 induction after DNA damage is regulated by checkpoint kinases Chk1 and Chk2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Requirement of the MRN complex for ATM activation by DNA damage

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

A new chromosomal instability disorder: the Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

V(D)J rearrangement in Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

SIRT1 regulates the function of the Nijmegen breakage syndrome protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

The effects of NBS1 knockdown by small interfering RNA on the ionizing radiation-induced apoptosis in human lymphoblastoid cells with different p53 status

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1210876

7 January 2021

Identifiers

DOI

10.1038/SJ.ONC.1210876

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18066092%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference