CEP152 is a genome maintenance protein disrupted in Seckel syndrome (Q24312725)

GOA release 2020-03-11

1 reference

30

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Gudrun Nürnberg

10

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Bernd Wollnik

32

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Anita Rauch

29

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Dagmar Wieczorek

25

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Gökhan Yigit

2

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Hulya Kayserili

7

Hülya Kayserili

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Martin S. Taylor

Martin S Taylor

20

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Andrew Jackson

Andrew P Jackson

28

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Wieland Kiess

11

Wieland Kiess

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Han G. Brunner

26

Han G Brunner

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Louise Bicknell

6

Louise S Bicknell

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Ersan Kalay

1

Ersan Kalay

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Bayram Toraman

15

Bayram Toraman

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Ingelore Baessmann

13

Ingelore Baessmann

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Hélène Dollfus

24

Helene Dollfus

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Matthew Hurles

27

Matthew Hurles

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Ahmet Karaguzel

31

Ahmet Karagüzel

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author name string

Yakup Aslan

3

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Karen E Brown

4

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Esther Pohl

5

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Yun Li

8

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Beyhan Tüysüz

9

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Manfred Koegl

12

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Kurtulus Buruk

14

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Saadettin Kayipmaz

16

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Sibel Kul

17

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Mevlit Ikbal

18

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Daniel J Turner

19

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Jan Aerts

21

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Carol Scott

22

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Karen Milstein

A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging

23

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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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

Drosophila asterless and vertebrate Cep152 Are orthologs essential for centriole duplication

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

Proteomic characterization of the human centrosome by protein correlation profiling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

Chk1 is an essential kinase that is regulated by Atr and required for the G(2)/M DNA damage checkpoint

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

Pericentrin, a highly conserved centrosome protein involved in microtubule organization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

ATR: an essential regulator of genome integrity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

Functional genomic screens identify CINP as a genome maintenance protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

H2AX phosphorylation within the G1 phase after UV irradiation depends on nucleotide excision repair and not DNA double-strand breaks

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3430850

Toward maintaining the genome: DNA damage and replication 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=3430850

Studies of microcephalic primordial dwarfism I: approach to a delineation of the 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=3430850

27 September 2017

Identifiers

DOI

10.1038/NG.725

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Dimensions Publication ID

1049981821

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1 reference

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PubMed publication ID

21131973

1 reference