RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling (Q36089253)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Tatjana Stankovic

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Stephen C. West

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

Philip J Byrd

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Thomas Wechsler

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Edward S Miller

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Aarn Huissoon

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Mark T Drayson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Stephen J Elledge

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

A Malcolm R Taylor

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

language of work or name

English

0 references

publication date

16 October 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

8 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

issue

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

16910-16915

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

Structural basis for the methylation state-specific recognition of histone H4-K20 by 53BP1 and Crb2 in DNA repair

8 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Primary immunodeficiency syndromes associated with defective DNA double-strand break repair

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Checking on DNA damage in S phase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Human Rif1, ortholog of a yeast telomeric protein, is regulated by ATM and 53BP1 and functions in the S-phase checkpoint

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

DNA damage-induced activation of ATM and ATM-dependent signaling pathways

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Class-switch recombination: interplay of transcription, DNA deamination and DNA repair

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

53BP1 is required for class switch recombination

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

53BP1 links DNA damage-response pathways to immunoglobulin heavy chain class-switch recombination.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

53BP1 and NFBD1/MDC1-Nbs1 function in parallel interacting pathways activating ataxia-telangiectasia mutated (ATM) in response to DNA damage

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Histone H2AX phosphorylation is dispensable for the initial recognition of DNA breaks

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

p53 Binding protein 53BP1 is required for DNA damage responses and tumor suppression in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

MDC1 is a mediator of the mammalian DNA damage checkpoint

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

53BP1 functions in an ATM-dependent checkpoint pathway that is constitutively activated in human cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Disruption of the checkpoint kinase 1/cell division cycle 25A pathway abrogates ionizing radiation-induced S and G2 checkpoints

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

53BP1, a mediator of the DNA damage checkpoint

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Increased ionizing radiation sensitivity and genomic instability in the absence of histone H2AX

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Genomic instability in mice lacking histone H2AX

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Two molecularly distinct G(2)/M checkpoints are induced by ionizing irradiation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

AID is required to initiate Nbs1/gamma-H2AX focus formation and mutations at sites of class switching

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

DNA end-joining catalyzed by human cell-free extracts

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Variations in ATM protein expression during normal lymphoid differentiation and among B-cell-derived neoplasias

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2040433

23 September 2018

Identifiers

DOI

10.1073/PNAS.0708408104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17940005%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference