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CEP152 is a genome maintenance protein disrupted in Seckel syndrome
scientific article
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instance of
scholarly article
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title
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
(English)
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main subject
Centrosomal protein 152
1 reference
stated in
GOA release 2020-03-11
Seckel syndrome
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based on heuristic
inferred from title
author
Peter Nürnberg
series ordinal
30
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Gudrun Nürnberg
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10
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Bernd Wollnik
series ordinal
32
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Anita Rauch
series ordinal
29
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Dagmar Wieczorek
series ordinal
25
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Gökhan Yigit
series ordinal
2
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Hulya Kayserili
series ordinal
7
object named as
Hülya Kayserili
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Martin S. Taylor
object named as
Martin S Taylor
series ordinal
20
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Andrew Jackson
object named as
Andrew P Jackson
series ordinal
28
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Wieland Kiess
series ordinal
11
object named as
Wieland Kiess
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Han G. Brunner
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26
object named as
Han G Brunner
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Louise Bicknell
series ordinal
6
object named as
Louise S Bicknell
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Ersan Kalay
series ordinal
1
object named as
Ersan Kalay
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Bayram Toraman
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15
object named as
Bayram Toraman
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Ingelore Baessmann
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13
object named as
Ingelore Baessmann
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Hélène Dollfus
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24
object named as
Helene Dollfus
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Matthew Hurles
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27
object named as
Matthew Hurles
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author name string
Yakup Aslan
series ordinal
3
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Karen E Brown
series ordinal
4
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Esther Pohl
series ordinal
5
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Yun Li
series ordinal
8
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Beyhan Tüysüz
series ordinal
9
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Manfred Koegl
series ordinal
12
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Kurtulus Buruk
series ordinal
14
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Saadettin Kayipmaz
series ordinal
16
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Sibel Kul
series ordinal
17
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Mevlit Ikbal
series ordinal
18
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Daniel J Turner
series ordinal
19
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Jan Aerts
series ordinal
21
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Carol Scott
series ordinal
22
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Karen Milstein
series ordinal
23
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Ahmet Karagüzel
series ordinal
31
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language of work or name
English
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publication date
January 2011
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published in
Nature Genetics
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volume
43
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issue
1
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page(s)
23-6
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cites work
A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
19 March 2017
Drosophila asterless and vertebrate Cep152 Are orthologs essential for centriole duplication
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
19 March 2017
Proteomic characterization of the human centrosome by protein correlation profiling
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
19 March 2017
Chk1 is an essential kinase that is regulated by Atr and required for the G(2)/M DNA damage checkpoint
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
19 March 2017
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
19 March 2017
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
19 March 2017
Pericentrin, a highly conserved centrosome protein involved in microtubule organization
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
19 March 2017
ATR: an essential regulator of genome integrity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
7 April 2017
GammaH2AX and cancer
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
7 April 2017
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
27 September 2017
Functional genomic screens identify CINP as a genome maintenance protein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
27 September 2017
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
27 September 2017
H2AX phosphorylation within the G1 phase after UV irradiation depends on nucleotide excision repair and not DNA double-strand breaks
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
27 September 2017
Toward maintaining the genome: DNA damage and replication checkpoints
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
27 September 2017
Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850
retrieved
27 September 2017
Identifiers
DOI
10.1038/NG.725
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2453057
Dimensions Publication ID
1049981821
0 references
OpenCitations bibliographic resource ID
2453057
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2453057
PMCID
3430850
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2453057
PubMed ID
21131973
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2453057
ResearchGate publication ID
49658680
0 references
Springer Nature article ID
10.1038/ng.725
0 references
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