Chromosomal instability at common fragile sites in Seckel syndrome (Q24533727)

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31 December 2019

case report

0 references

title

Chromosomal instability at common fragile sites in Seckel syndrome (English)

1 reference

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31 December 2019

1 reference

1

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31 December 2019

author name string

Sandra G Durkin

series ordinal

2

1 reference

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31 December 2019

Martin F Arlt

series ordinal

3

1 reference

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31 December 2019

Thomas W Glover

series ordinal

4

1 reference

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31 December 2019

language of work or name

English

0 references

publication date

12 August 2004

1 reference

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American Journal of Human Genetics

31 December 2019

published in

1 reference

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31 December 2019

volume

75

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31 December 2019

issue

4

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31 December 2019

page(s)

654-660

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

31 December 2019

cites work

1 reference

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ATR and ATRIP: partners in checkpoint signaling

24 March 2017

1 reference

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FRA3B extends over a broad region and contains a spontaneous HPV16 integration site: direct evidence for the coincidence of viral integration sites and fragile sites

24 March 2017

1 reference

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Cell cycle checkpoint signaling through the ATM and ATR kinases

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

The DNA replication checkpoint response stabilizes stalled replication forks

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Regulation of DNA replication fork progression through damaged DNA by the Mec1/Rad53 checkpoint

7 April 2017

1 reference

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Folic acid and neural tube defects in pregnancy: a review

7 April 2017

1 reference

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

ATR Regulates Fragile Site Stability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Hypoxia links ATR and p53 through replication arrest

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Folates and cardiovascular disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Overexpression of a kinase-inactive ATR protein causes sensitivity to DNA-damaging agents and defects in cell cycle checkpoints

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Expression of fragile sites triggers intrachromosomal mammalian gene amplification and sets boundaries to early amplicons

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Acute myeloid leukaemia in a patient with Seckel syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Severe intrauterine growth retardation with increased mitomycin C sensitivity: a further chromosome breakage syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Induction of sister chromatid exchanges at common fragile sites

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Chromosome breakage and recombination at fragile sites

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Preferential sites for viral integration on mammalian genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Preferential integration of marker DNA into the chromosomal fragile site at 3p14: an approach to cloning fragile sites

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Folate deficiency delays the onset but increases the incidence of leukemia in Friend virus-infected mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Seckel syndrome in a family with three affected children and hematological manifestations associated with chromosome instability.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Viral integration and fragile sites in human papillomavirus-immortalized human keratinocyte cell lines

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Seckel's Dwarfism: Analysis of Chromosome Breakage and Sister Chromatid Exchanges

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

Chromosome instability induced in vitro with mitomycin C in five Seckel syndrome patients.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

FRA3B and other common fragile sites: the weakest links

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182052

ATR inhibition selectively sensitizes G1 checkpoint-deficient cells to lethal premature chromatin condensation

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15309689

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A role for common fragile site induction in amplification of human oncogenes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15309689

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Constitutional hypoplastic anemia associated with familial "bird-headed" dwarfism (Seckel syndrome)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15309689

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/422701

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309689%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15309689%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

PubMed publication ID

15309689

2 references