(Q38632163)

4 September 2017

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

1 reference

4 September 2017

0 references

1 reference

Bertrand Vernay

6

0 references

Sarah Walker

Sarah Walker

2

0 references

Mark O'Driscoll

Mark O'Driscoll

13

0 references

William Charles Earnshaw

William C Earnshaw

10

0 references

Andrew Jackson

Andrew P Jackson

12

0 references

author name string

Elen Griffith

1

1 reference

4 September 2017

Carol-Anne Martin

3

1 reference

4 September 2017

Paola Vagnarelli

4

1 reference

4 September 2017

Tom Stiff

5

1 reference

4 September 2017

Nouriya Al Sanna

7

1 reference

4 September 2017

Anand Saggar

8

1 reference

4 September 2017

Ben Hamel

9

1 reference

4 September 2017

Penny A Jeggo

11

1 reference

4 September 2017

language of work or name

English

0 references

publication date

23 December 2007

1 reference

4 September 2017

1 reference

4 September 2017

40

1 reference

4 September 2017

232-236

1 reference

4 September 2017

2

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.2007.80

4 September 2017

0 references

cites work

Specific role of Chk1 phosphorylations in cell survival and checkpoint activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Flores hominid: New species or microcephalic dwarf?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Centrosomes in cellular regulation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Evolution of primary microcephaly genes and the enlargement of primate brains

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

A new small-bodied hominin from the Late Pleistocene of Flores, Indonesia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Centrosome amplification induced by DNA damage occurs during a prolonged G2 phase and involves ATM.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Centrosome-associated Chk1 prevents premature activation of cyclin-B-Cdk1 kinase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

The Drosophila pericentrin-like protein is essential for cilia/flagella function, but appears to be dispensable for mitosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Mitosis-specific anchoring of gamma tubulin complexes by pericentrin controls spindle organization and mitotic entry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Centrosomal Anchoring of Protein Kinase C βII by Pericentrin Controls Microtubule Organization, Spindle Function, and Cytokinesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

The centrosomal proteins pericentrin and kendrin are encoded by alternatively spliced products of one gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

ASPM is a major determinant of cerebral cortical size

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Kendrin/pericentrin-B, a centrosome protein with homology to pericentrin that complexes with PCM-1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

ATM and ATR: networking cellular responses to DNA damage

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Pericentrin anchors protein kinase A at the centrosome through a newly identified RII-binding domain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Direct interaction of pericentrin with cytoplasmic dynein light intermediate chain contributes to mitotic spindle organization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Pericentrin and gamma-tubulin form a protein complex and are organized into a novel lattice at the centrosome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Pericentrin, a highly conserved centrosome protein involved in microtubule organization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

DNA damage-induced accumulation of centrosomal Chk1 contributes to its checkpoint function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Centrosomal localization of DNA damage checkpoint proteins

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

Characterization of pericentrin isoforms in vivo

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2397541

31 August 2018

Identifiers

DOI

10.1038/NG.2007.80

1 reference

4 September 2017

1 reference

4 September 2017

1 reference