(Q80509657)

English

First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability

scientific article published on 24 August 2004

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15338273%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15338273%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

aplastic anemia

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

3

object named as

Sachiyo Mimaki

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15338273%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

author name string

Hiroyuki Shimada

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15338273%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Kimiko Shimizu

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15338273%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Tokuki Sakiyama

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15338273%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Tetsuya Mori

5

1 reference

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1 January 2020

Noriko Shimasaki

6

1 reference

Europe PubMed Central

PubMed publication ID

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1 January 2020

Jun Yokota

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15338273%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Kei Nakachi

8

1 reference

Europe PubMed Central

PubMed publication ID

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1 January 2020

Tsutomu Ohta

9

1 reference

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1 January 2020

Misao Ohki

10

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1 January 2020

publication date

24 August 2004

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1 January 2020

1 reference

Europe PubMed Central

PubMed publication ID

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1 January 2020

115

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1 January 2020

5

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Europe PubMed Central

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1 January 2020

372-376

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15338273%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

https://scigraph.springernature.com/pub.10.1007/s00439-004-1155-1

0 references

NBS1 and TRF1 colocalize at promyelocytic leukemia bodies during late S/G2 phases in immortalized telomerase-negative cells. Implication of NBS1 in alternative lengthening of telomeres

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pathophysiology of acquired aplastic anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interaction of FANCD2 and NBS1 in the DNA damage response

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA cross-link-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of mutations in the NBS1 gene in B-cell malignant lymphoma patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Positional cloning of the gene for Nijmegen breakage syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No evidence for deletions of the NBS1 gene in lymphomas

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15338273

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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