(Q41920309)

14 October 2017

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

1 reference

Nijmegen breakage syndrome

14 October 2017

1 reference

E Seemanová

1

1 reference

14 October 2017

K Sperling

2

1 reference

14 October 2017

H Neitzel

3

1 reference

14 October 2017

R Varon

4

1 reference

14 October 2017

J Hadac

5

1 reference

14 October 2017

O Butova

6

1 reference

14 October 2017

E Schröck

7

1 reference

14 October 2017

P Seeman

8

1 reference

14 October 2017

M Digweed

9

1 reference

14 October 2017

language of work or name

English

0 references

publication date

20 July 2005

1 reference

Journal of Medical Genetics

14 October 2017

1 reference

14 October 2017

43

1 reference

14 October 2017

3

1 reference

14 October 2017

218-224

1 reference

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

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Requirement of the MRN complex for ATM activation by DNA damage

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Interaction of FANCD2 and NBS1 in the DNA damage response

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Chk2 activation dependence on Nbs1 after DNA damage

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

ATM-dependent phosphorylation of nibrin in response to radiation exposure

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Cranial MRI in the Nijmegen breakage syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

A new chromosomal instability disorder: the Nijmegen breakage syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563240

Nbs1 promotes ATM dependent phosphorylation events including those required for G1/S arrest

18 August 2018

1 reference

12 December 2020

Chromosome instability and nibrin protein variants in NBS heterozygotes

1 reference

12 December 2020

Correspondence re: R. Varon et al., Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia. Cancer Res., 61: 3570-3572, 2001

1 reference

12 December 2020

[Nijmegen breakage syndrome in Slovakia]

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.035287

1 reference

14 October 2017

1 reference

14 October 2017

PubMed publication ID

16033915

1 reference