(Q24650700)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

title

Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

Duane retraction syndrome

11 January 2020

main subject

0 references

author

Susan Lindsay

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Sian Ellard

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Alessandro Iannaccone

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Stephen Christiansen

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Alfonso Baldi

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Mustafa Sahin

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

author name string

Noriko Miyake

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

John Chilton

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Maria Psatha

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Long Cheng

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Caroline Andrews

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Wai-Man Chan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Krystal Law

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Moira Crosier

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Michelle Cheung

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

James Allen

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Nick J Gutowski

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Elizabeth Young

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Binoy Appukuttan

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

J Timothy Stout

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Maria Laura Ciccarelli

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Mara Campioni

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Juan C Zenteno

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Dominic Davenport

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Laura E Mariani

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Sarah Guthrie

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Elizabeth C Engle

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

language of work or name

English

0 references

publication date

24 July 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

number of pages

5

1 reference

based on heuristic

inferred from page(s)

published in

Science

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

volume

321

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

issue

5890

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

page(s)

839-843

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

The diacylglycerol-binding protein alpha1-chimaerin regulates dendritic morphology

11 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Alpha 2-chimerin, an SH2-containing GTPase-activating protein for the ras-related protein p21rac derived by alternate splicing of the human n-chimerin gene, is selectively expressed in brain regions and testes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Eph-dependent tyrosine phosphorylation of ephexin1 modulates growth cone collapse

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

alpha2-Chimaerin is an essential EphA4 effector in the assembly of neuronal locomotor circuits

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Structural mechanism for lipid activation of the Rac-specific GAP, beta2-chimaerin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Rac-GAP alpha-chimerin regulates motor-circuit formation as a key mediator of EphrinB3/EphA4 forward signaling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

The nonkinase phorbol ester receptor alpha 1-chimerin binds the NMDA receptor NR2A subunit and regulates dendritic spine density

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

7 April 2017

1 reference

https://api.crossref.org/works/10.1126/SCIENCE.1156121

Patterning and axon guidance of cranial motor neurons

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Alpha2-chimaerin interacts with EphA4 and regulates EphA4-dependent growth cone collapse

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Oculomotility disorders arising from disruptions in brainstem motor neuron development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Boundary formation in the hindbrain: Eph only it were simple...

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

alpha2-chimaerin, a Cdc42/Rac1 regulator, is selectively expressed in the rat embryonic nervous system and is involved in neuritogenesis in N1E-115 neuroblastoma cells.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Localization of a gene for Duane retraction syndrome to chromosome 2q31

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Promoter region of the transcriptional unit for human alpha 1-chimaerin, a neuron-specific GTPase-activating protein for p21rac

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Bilateral Duane's retraction syndrome. A clinical-pathologic case report

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

There's more than one way to skin a chimaerin

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Clinical diversity of hereditary Duane's retraction syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2593867

Unilateral Duane's retraction syndrome (Type 1).

30 May 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1156121

Alpha2-chimaerin, cyclin-dependent Kinase 5/p35, and its target collapsin response mediator protein-2 are essential components in semaphorin 3A-induced growth-cone collapse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1156121

Development of oculomotor axon projections in the chick embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1156121

EphA4 signaling regulates phospholipase Cgamma1 activation, cofilin membrane association, and dendritic spine morphology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1156121

Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1156121

Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18653847

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

EphA4-dependent axon guidance is mediated by the RacGAP alpha2-chimaerin

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18653847

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1126/SCIENCE.1156121

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18653847%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

PubMed publication ID

18653847

1 reference