A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome (Q28183834)

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scientific article (publication date: April 2003)

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English	A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome	scientific article (publication date: April 2003)

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instance of

scholarly article

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title

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

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main subject

Seckel syndrome

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author

Mark O'Driscoll

object named as

Mark O'Driscoll

series ordinal

1

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Victor L Ruiz-Perez

object named as

Victor L Ruiz-Perez

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2

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Judith A Goodship

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5

object named as

Judith A Goodship

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author name string

C Geoffrey Woods

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3

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Penny A Jeggo

series ordinal

4

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language of work or name

English

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publication date

April 2003

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published in

Nature Genetics

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volume

33

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issue

4

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page(s)

497-501

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cites work

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

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https://api.crossref.org/works/10.1038%2FNG1129

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cDNA cloning and gene mapping of a candidate human cell cycle checkpoint protein

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The Schizosaccharomyces pombe rad3 checkpoint gene

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https://api.crossref.org/works/10.1038%2FNG1129

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The Sequence of the Human Genome

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The DNA damage response: putting checkpoints in perspective

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https://api.crossref.org/works/10.1038%2FNG1129

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ATM and ATR: networking cellular responses to DNA damage

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DNA-PK, ATM and ATR as sensors of DNA damage: variations on a theme?

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https://api.crossref.org/works/10.1038%2FNG1129

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7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG1129

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

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https://api.crossref.org/works/10.1038%2FNG1129

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ATM phosphorylates histone H2AX in response to DNA double-strand breaks

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https://api.crossref.org/works/10.1038%2FNG1129

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RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

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Predictive identification of exonic splicing enhancers in human genes

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https://api.crossref.org/works/10.1038%2FNG1129

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A requirement for replication in activation of the ATR-dependent DNA damage checkpoint

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The role of single-stranded DNA and polymerase alpha in establishing the ATR, Hus1 DNA replication checkpoint

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ATR and ATRIP: partners in checkpoint signaling

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Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes

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Normal cellular radiosensitivity in an adult Fanconi anaemia patient with marked clinical radiosensitivity

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A comparison of the response of unstimulated and stimulated T-lymphocytes and fibroblasts from normal, xeroderma pigmentosum and trichothiodystrophy donors to the lethal action of UV-C

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Identifiers

DOI

10.1038/NG1129

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stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1611817

OpenCitations bibliographic resource ID

1611817

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1611817

PubMed publication ID

12640452

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stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1611817

ResearchGate publication ID

10853995

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