(Q52883562)

http://europepmc.org/abstract/MED/26908619

9 May 2018

title

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. (English)

1 reference

http://europepmc.org/abstract/MED/26908619

9 May 2018

author

Kieran Brennan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Noémie Scheidel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Paul T Lavin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Stephen P Carter

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Sean Ennis

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Oliver E Blacque

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

9

Neeti Ghali

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Jillian P Casey

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Paul McGettigan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Huw Dorkins

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Margaret M Mc Gee

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Helen Murphy

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Sally Ann Lynch

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

publication date

21 February 2016

1 reference

http://europepmc.org/abstract/MED/26908619

9 May 2018

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

1824-1835

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

Nosology and classification of genetic skeletal disorders: 2010 revision.

31 May 2020

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Nek1 silencing slows down DNA repair and blocks DNA damage-induced cell cycle arrest

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NEK9 depletion induces catastrophic mitosis by impairment of mitotic checkpoint control and spindle dynamics

21 January 2018

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Nek9 regulates spindle organization and cell cycle progression during mouse oocyte meiosis and its location in early embryo mitosis

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Nek9, a novel FACT-associated protein, modulates interphase progression

21 January 2018

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WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

21 January 2018

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Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

21 January 2018

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NEK1 mutations cause short-rib polydactyly syndrome type majewski

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21 January 2018

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Nek1 interacts with Ku80 to assist chromatin loading of replication factors and S-phase progression

21 January 2018

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Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

21 January 2018

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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

21 January 2018

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NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

21 January 2018

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Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

21 January 2018

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21 January 2018

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The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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