(Q33675115)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

Rho/Rac guanine nucleotide exchange factor 2

19 March 2020

main subject

disability

0 references

1 reference

asymmetric neuroblast division

GOA release 2020-03-11

1 reference

Rho/rac guanine nucleotide exchange factor (GEF) 2

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

intellectual disability

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

inferred from title

author

Luis R Hernandez-Miranda

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Nadine Kraemer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Olaf Ninnemann

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Carmen Birchmeier

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Thomas F Wienker

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

14

Freda D Miller

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

12

Hans-Hilger Ropers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

Ethiraj Ravindran

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Hao Hu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Scott A Yuzwa

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Luciana Musante

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Detlev Schindler

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Angela Hübner

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Hans-Christian Reinecker

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Christoph Hübner

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Eugen Boltshauser

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Angela M Kaindl

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

publication date

28 April 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

e1006746

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

19 March 2020

copyright license

start time

28 April 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5428974/fullTextXML

inferred from PubMed Central ID database lookup

cites work

The dorsal spinal cord and hindbrain: From developmental mechanisms to functional circuits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Proliferation and Differentiation Deficits are a Major Convergence Point for Neurodevelopmental Disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Signaling pathways that control rho kinase activity maintain the embryonic epicardial progenitor state

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

The diverse genetic landscape of neurodevelopmental disorders.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

A high-resolution spatiotemporal atlas of gene expression of the developing mouse brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Transcriptional landscape of the prenatal human brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

GEF-H1 functions in apical constriction and cell intercalations and is essential for vertebrate neural tube closure

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

GEF-H1 controls microtubule-dependent sensing of nucleic acids for antiviral host defenses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Integrative mechanisms of oriented neuronal migration in the developing brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Spatio-temporal transcriptome of the human brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Loss of RhoA in neural progenitor cells causes the disruption of adherens junctions and hyperproliferation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Calpain-6, a microtubule-stabilizing protein, regulates Rac1 activity and cell motility through interaction with GEF-H1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Involvement of p114-RhoGEF and Lfc in Wnt-3a- and dishevelled-induced RhoA activation and neurite retraction in N1E-115 mouse neuroblastoma cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Modulation of Rho guanine exchange factor Lfc activity by protein kinase A-mediated phosphorylation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Guanine nucleotide exchange factor-H1 regulates cell migration via localized activation of RhoA at the leading edge

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Lfc and Tctex-1 regulate the genesis of neurons from cortical precursor cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Neurogenesis and asymmetric cell division

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Cellular functions of GEF-H1, a microtubule-regulated Rho-GEF: is altered GEF-H1 activity a crucial determinant of disease pathogenesis?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

GEF-H1 couples nocodazole-induced microtubule disassembly to cell contractility via RhoA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

ERK1/2 phosphorylate GEF-H1 to enhance its guanine nucleotide exchange activity toward RhoA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

GEF-H1 modulates localized RhoA activation during cytokinesis under the control of mitotic kinases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Control of CNS cell-fate decisions by SHP-2 and its dysregulation in Noonan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Key role played by RhoA in the balance between planar and apico-basal cell divisions in the chick neuroepithelium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Brain malformations associated with cell migration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Mutant p53 induces the GEF-H1 oncogene, a guanine nucleotide exchange factor-H1 for RhoA, resulting in accelerated cell proliferation in tumor cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Contribution of guanine exchange factor H1 in phorbol ester-induced apoptosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

The Rho GTP exchange factor Lfc promotes spindle assembly in early mitosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

PAK4 mediates morphological changes through the regulation of GEF-H1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Distinct roles of Rac1/Cdc42 and Rho/Rock for axon outgrowth and nucleokinesis of precerebellar neurons toward netrin 1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

p21-activated kinase 1 phosphorylates and regulates 14-3-3 binding to GEF-H1, a microtubule-localized Rho exchange factor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Nucleotide exchange factor GEF-H1 mediates cross-talk between microtubules and the actin cytoskeleton

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

A long, remarkable journey: tangential migration in the telencephalon.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Neural induction. A bird's eye view.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Cloning and characterization of GEF-H1, a microtubule-associated guanine nucleotide exchange factor for Rac and Rho GTPases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Development of the precerebellar nuclei in the rat: IV. The anterior precerebellar extramural migratory stream and the nucleus reticularis tegmenti pontis and the basal pontine gray

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

The midbrain-hindbrain phenotype of Wnt-1-/Wnt-1- mice results from stepwise deletion of engrailed-expressing cells by 9.5 days postcoitum.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5428974

Mechanistic insight into the microtubule and actin cytoskeleton coupling through dynein-dependent RhoGEF inhibition.

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006746

Dynamic regulation of GEF-H1 localization at microtubules by Par1b/MARK2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006746

A novel guanine exchange factor increases the competence of early ectoderm to respond to neural induction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006746

Evidence that embryonic neurons regulate the onset of cortical gliogenesis via cardiotrophin-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006746

An essential role for a MEK-C/EBP pathway during growth factor-regulated cortical neurogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006746

Hindbrain rhombic lip is comprised of discrete progenitor cell populations allocated by Pax6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006746

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006746

Reference genes in the developing murine brain and in differentiating embryonic stem cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006746

Development of precerebellar nuclei: instructive factors and intracellular mediators in neuronal migration, survival and axon pathfinding

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006746

Development of the precerebellar nuclei in the rat: III. The posterior precerebellar extramural migratory stream and the lateral reticular and external cuneate nuclei

21 January 2018

1 reference

12 December 2020

Development of the precerebellar nuclei in the rat: II. The intramural olivary migratory stream and the neurogenetic organization of the inferior olive

1 reference

12 December 2020

Development of the precerebellar nuclei in the rat: I. The precerebellar neuroepithelium of the rhombencephalon

1 reference

12 December 2020

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1006746

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28453519%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference