(Q40501657)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15496423%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway (English)

1 reference

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4 January 2020

0 references

1 reference

1

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4 January 2020

Anders D. Børglum

4

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4 January 2020

author name string

Hans Joenje

2

1 reference

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4 January 2020

Raymonda Varon

3

1 reference

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4 January 2020

Penny A Jeggo

5

1 reference

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4 January 2020

Mark O'Driscoll

6

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4 January 2020

publication date

20 October 2004

1 reference

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4 January 2020

published in

Human Molecular Genetics

1 reference

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4 January 2020

volume

13

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4 January 2020

issue

24

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4 January 2020

page(s)

3127-3138

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describes a project that uses

4 January 2020

DK0064

0 references

cites work

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ATR and ATRIP: partners in checkpoint signaling

21 January 2018

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Replication protein A-mediated recruitment and activation of Rad17 complexes

21 January 2018

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Sensing DNA damage through ATRIP recognition of RPA-ssDNA complexes

21 January 2018

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Histone H2AX is phosphorylated in an ATR-dependent manner in response to replicational stress

21 January 2018

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A role for ATR in the DNA damage-induced phosphorylation of p53

21 January 2018

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ATR-mediated checkpoint pathways regulate phosphorylation and activation of human Chk1

21 January 2018

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The DNA damage response: putting checkpoints in perspective

21 January 2018

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

21 January 2018

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Regulation of ATR substrate selection by Rad17-dependent loading of Rad9 complexes onto chromatin

21 January 2018

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Analysis of the fission yeast checkpoint Rad proteins

21 January 2018

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

21 January 2018

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Essential and dispensable roles of ATR in cell cycle arrest and genome maintenance

21 January 2018

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Ataxia telangiectasia genes and predisposition to leukaemia, lymphoma and breast cancer

21 January 2018

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

21 January 2018

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Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism

21 January 2018

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Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?

21 January 2018

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Acute myeloid leukaemia in a patient with Seckel syndrome

21 January 2018

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An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome

21 January 2018

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Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.

21 January 2018

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

21 January 2018

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Is the novel SCKL3 at 14q23 the predominant Seckel locus?

21 January 2018

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Clinical and genetic heterogeneity of Seckel syndrome.

21 January 2018

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

21 January 2018

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An ATR- and Chk1-dependent S checkpoint inhibits replicon initiation following UVC-induced DNA damage

21 January 2018

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Caffeine mimics adenine and 2′‐deoxyadenosine, both of which inhibit the guanine‐nucleotide exchange activity of RCC1 and the kinase activity of ATR

21 January 2018

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14-3-3Sigma is required to prevent mitotic catastrophe after DNA damage

21 January 2018

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Replication checkpoint: preventing mitotic catastrophe

21 January 2018

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If not apoptosis, then what? Treatment-induced senescence and mitotic catastrophe in tumor cells

21 January 2018

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Centrosomes split in the presence of impaired DNA integrity during mitosis

21 January 2018

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Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells

21 January 2018

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Abnormal centrosome amplification in the absence of p53.

21 January 2018

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Active cyclin B1-Cdk1 first appears on centrosomes in prophase

21 January 2018

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Inhibition of Polo-like kinase-1 by DNA damage occurs in an ATM- or ATR-dependent fashion.

21 January 2018

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Characterization of mec1 kinase-deficient mutants and of new hypomorphic mec1 alleles impairing subsets of the DNA damage response pathway

21 January 2018

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Requirement of sequences outside the conserved kinase domain of fission yeast Rad3p for checkpoint control.

21 January 2018

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ATR homolog Mec1 promotes fork progression, thus averting breaks in replication slow zones.

21 January 2018

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ATR Regulates Fragile Site Stability

21 January 2018

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Chromosomal instability at common fragile sites in Seckel syndrome

21 January 2018

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DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes

21 January 2018

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ASPM is a major determinant of cerebral cortical size

21 January 2018

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