(Q41932824)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

main subject

photoreceptor protein

0 references

author

Berta De la Cerda

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

Francisco J Diaz-Corrales

21 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

4

Simone Massalini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

author name string

Lourdes Valdés-Sánchez

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Christina F Chakarova

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Alan F Wright

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

Shomi S Bhattacharya

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

publication date

7 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

volume

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

issue

8

1 reference

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21 February 2020

page(s)

1507-1515

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

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

21 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

ATM, ATR and DNA-PK: initiators of the cellular genotoxic stress responses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

DNA damage-induced signalling in ataxia-telangiectasia and related syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

ATR: an essential regulator of genome integrity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

Mouse models for ATR deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

Ocular manifestations of Seckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

RP1 is required for the correct stacking of outer segment discs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

Emerging common themes in regulation of PIKKs and PI3Ks

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

Atm-deficient mice: a paradigm of ataxia telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

A role for vascular deficiency in retinal pathology in a mouse model of ataxia-telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

ATM gene variants in patients with idiopathic perifoveal telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

The centrosomal protein pericentrin identified at the basal body complex of the connecting cilium in mouse photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

Centrosomal localization of DNA damage checkpoint proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

The primary cilium: keeper of the key to cell division

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

The MAP2/Tau family of microtubule-associated proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

Analysis of the weak interactions of ADP-Unc104 and ADP-kinesin with microtubules and their inhibition by MAP2c

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS563

21 January 2018

Identifiers

DOI

10.1093/HMG/DDS563

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23297361%20AND%20SRC:MED&resulttype=core&format=json