CtIP Mutations Cause Seckel and Jawad Syndromes (Q27335946)

Per Qvist

1

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Pablo Huertas

Pablo Huertas

2

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Mette Nyegaard

Mette Nyegaard

4

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Stephen P Jackson

Stephen P Jackson

6

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author name string

Muhammad J Hassan

5

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Anders D Børglum

Creative Commons Attribution 4.0 International

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

start time

6 October 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

1 reference

Europe PubMed Central

11 June 2022

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

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DNA resection in eukaryotes: deciding how to fix the break

21 March 2017

1 reference

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N terminus of CtIP is critical for homologous recombination-mediated double-strand break repair

21 March 2017

1 reference

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CDK targets Sae2 to control DNA-end resection and homologous recombination

21 March 2017

1 reference

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Human CtIP promotes DNA end resection

21 March 2017

1 reference

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Functional uncoupling of MCM helicase and DNA polymerase activities activates the ATR-dependent checkpoint.

21 March 2017

1 reference

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

21 March 2017

1 reference

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DNA damage-induced cell cycle checkpoint control requires CtIP, a phosphorylation-dependent binding partner of BRCA1 C-terminal domains

21 March 2017

1 reference

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Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response

21 March 2017

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Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor

21 March 2017

1 reference

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Sae2 is an endonuclease that processes hairpin DNA cooperatively with the Mre11/Rad50/Xrs2 complex

21 March 2017

1 reference

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Human CtIP mediates cell cycle control of DNA end resection and double strand break repair

21 March 2017

1 reference

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SIAH-1 interacts with CtIP and promotes its degradation by the proteasome pathway

21 March 2017

1 reference

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

21 March 2017

1 reference

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Enhanced DNA-PK-mediated RPA2 hyperphosphorylation in DNA polymerase eta-deficient human cells treated with cisplatin and oxaliplatin

21 March 2017

1 reference

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Inactivation of CtIP leads to early embryonic lethality mediated by G1 restraint and to tumorigenesis by haploid insufficiency

21 March 2017

1 reference

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ATR: an essential regulator of genome integrity

21 March 2017

1 reference

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Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

7 April 2017

1 reference

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CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555

The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders

29 September 2017

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Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

29 September 2017

1 reference

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A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.

29 September 2017

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Ctp1 is a cell-cycle-regulated protein that functions with Mre11 complex to control double-strand break repair by homologous recombination

29 September 2017

1 reference

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Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555

A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555

Distinct spatiotemporal dynamics of mammalian checkpoint regulators induced by DNA damage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555

A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3188555

A new method for introducing double-strand breaks into cellular DNA.

29 September 2017

1 reference

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10.1371/JOURNAL.PGEN.1002310

29 September 2017

Identifiers

DOI

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release_xn6lxzx2lzd5vinwdglxuwppbu

2453071

Fatcat ID

0 references

2453071

1 reference

1 reference

1 reference