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CtIP Mutations Cause Seckel and Jawad Syndromes
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title
CtIP Mutations Cause Seckel and Jawad Syndromes
(English)
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author
Sonia Jimeno
object named as
Sonia Jimeno
series ordinal
3
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Per Qvist
object named as
Per Qvist
series ordinal
1
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Pablo Huertas
object named as
Pablo Huertas
series ordinal
2
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Mette Nyegaard
object named as
Mette Nyegaard
series ordinal
4
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Stephen P Jackson
object named as
Stephen P Jackson
series ordinal
6
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author name string
Muhammad J Hassan
series ordinal
5
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Anders D Børglum
series ordinal
7
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language of work or name
English
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publication date
October 2011
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published in
PLOS Genetics
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volume
7
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issue
10
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page(s)
e1002310
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copyright license
Creative Commons Attribution 4.0 International
start time
6 October 2011
1 reference
stated in
April 2022 Public Data File from Crossref
copyright status
copyrighted
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describes a project that uses
ImageJ
1 reference
stated in
Europe PubMed Central
retrieved
11 June 2022
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3188555/fullTextXML
based on heuristic
inferred from PubMed Central ID database lookup
cites work
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
DNA resection in eukaryotes: deciding how to fix the break
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
N terminus of CtIP is critical for homologous recombination-mediated double-strand break repair
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
CDK targets Sae2 to control DNA-end resection and homologous recombination
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
Human CtIP promotes DNA end resection
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
Functional uncoupling of MCM helicase and DNA polymerase activities activates the ATR-dependent checkpoint.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
DNA damage-induced cell cycle checkpoint control requires CtIP, a phosphorylation-dependent binding partner of BRCA1 C-terminal domains
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
Sae2 is an endonuclease that processes hairpin DNA cooperatively with the Mre11/Rad50/Xrs2 complex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
Human CtIP mediates cell cycle control of DNA end resection and double strand break repair
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
SIAH-1 interacts with CtIP and promotes its degradation by the proteasome pathway
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
Enhanced DNA-PK-mediated RPA2 hyperphosphorylation in DNA polymerase eta-deficient human cells treated with cisplatin and oxaliplatin
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
Inactivation of CtIP leads to early embryonic lethality mediated by G1 restraint and to tumorigenesis by haploid insufficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
21 March 2017
ATR: an essential regulator of genome integrity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
7 April 2017
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
Ctp1 is a cell-cycle-regulated protein that functions with Mre11 complex to control double-strand break repair by homologous recombination
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
Distinct spatiotemporal dynamics of mammalian checkpoint regulators induced by DNA damage
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
A new method for introducing double-strand breaks into cellular DNA.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555
retrieved
29 September 2017
Identifiers
DOI
10.1371/JOURNAL.PGEN.1002310
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2453071
Fatcat ID
release_xn6lxzx2lzd5vinwdglxuwppbu
0 references
OpenCitations bibliographic resource ID
2453071
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2453071
PMC publication ID
3188555
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2453071
PubMed publication ID
21998596
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2453071
ResearchGate publication ID
51716538
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