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English
Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.
scientific article published on 05 May 2012
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
title
Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
main subject
pathogenesis
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author
Jeffrey L. Noebels
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
author name string
Pedro R Olivetti
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
publication date
5 May 2012
1 reference
stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
published in
Current Opinion in Neurobiology
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stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
volume
22
1 reference
stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
issue
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
page(s)
859-865
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stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
cites work
Genetic and biologic classification of infantile spasms
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PubMed Central
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6 September 2017
Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression
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6 September 2017
High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Caenorhabditis elegans aristaless/Arx gene alr-1 restricts variable gene expression
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PubMed Central
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CXCR4 and CXCR7 have distinct functions in regulating interneuron migration.
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Modeling new therapies for infantile spasms
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6 September 2017
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
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6 September 2017
A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment
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The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein
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6 September 2017
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
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Identification of Arx transcriptional targets in the developing basal forebrain
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Major adverse events associated with treatment of infantile spasms
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6 September 2017
Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
CXC chemokine receptor 4 regulates neuronal migration and axonal pathfinding in the developing nervous system: implications for neuronal regeneration in the adult brain
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6 September 2017
Corticosteroids including ACTH for childhood epilepsy other than epileptic spasms
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
The role of ARX in cortical development
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Practice parameter: medical treatment of infantile spasms: report of the American Academy of Neurology and the Child Neurology Society
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Human ARX gene: genomic characterization and expression
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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6 September 2017
Stromal-derived factor 1 signalling regulates radial and tangential migration in the developing cerebral cortex
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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14 September 2017
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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14 September 2017
Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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28 September 2017
Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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23 June 2018
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
retrieved
23 June 2018
CXCR4 regulates interneuron migration in the developing neocortex.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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23 June 2018
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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31 August 2018
Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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31 August 2018
CXCR4 is required for proper regional and laminar distribution of cortical somatostatin-, calretinin-, and neuropeptide Y-expressing GABAergic interneurons.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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31 August 2018
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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31 August 2018
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
retrieved
31 August 2018
Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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31 August 2018
Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3437236
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31 August 2018
A pilot study on the changes in immunity after ACTH therapy in patients with West syndrome
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22565167
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Therapeutic efficacy and adverse effects of adrenocorticotropic hormone therapy in west syndrome: differences in dosage of adrenocorticotropic hormone, onset of age, and cause
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22565167
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Cxcr7 Controls Neuronal Migration by Regulating Chemokine Responsiveness
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22565167
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.CONB.2012.04.006
1 reference
stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
PMC publication ID
3437236
1 reference
stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
PubMed publication ID
22565167
1 reference
stated in
Europe PubMed Central
PMC publication ID
3437236
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22565167%20AND%20SRC:MED&resulttype=core&format=json
retrieved
31 January 2020
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