(Q34231583)

24916645

31 July 2017

title

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells (English)

1 reference

31 July 2017

2

1 reference

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7 June 2020

Francesca Ariani

10

1 reference

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7 June 2020

Francesca Mari

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Alessandra Renieri

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Ilaria Meloni

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

Gabriella Livide

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Mariangela Amenduni

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Sonia Amabile

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Dag Yasui

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Eleonora Calcagno

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Caterina Lo Rizzo

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Giulia De Falco

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Cristina Ulivieri

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Maria Antonietta Mencarelli

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Johannes Wilhelm Hell

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

publication date

11 June 2014

1 reference

24916645

European Journal of Human Genetics

31 July 2017

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

page(s)

195-201

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.81

7 June 2020

exact match

0 references

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Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway

6 July 2018

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Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model

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Extrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation

6 July 2018

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6 July 2018

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iPS cells to model CDKL5-related disorders.

6 July 2018

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Genetic controls balancing excitatory and inhibitory synaptogenesis in neurodevelopmental disorder models

6 July 2018

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Cell-surface marker signatures for the isolation of neural stem cells, glia and neurons derived from human pluripotent stem cells

6 July 2018

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Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

6 July 2018

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Rett syndrome: revised diagnostic criteria and nomenclature

6 July 2018

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A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells

6 July 2018

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Induced pluripotent stem cell models of the genomic imprinting disorders Angelman and Prader-Willi syndromes

6 July 2018

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CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling

6 July 2018

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Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes

6 July 2018

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Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells

6 July 2018

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MeCP2 is required for normal development of GABAergic circuits in the thalamus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

6 July 2018

1 reference

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Common variants in polygenic schizophrenia.

6 July 2018

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CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery

6 July 2018

1 reference

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Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations

6 July 2018

1 reference

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Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Dissection of phenotype reveals possible association between schizophrenia and Glutamate Receptor Delta 1 (GRID1) gene promoter

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Postsynaptic glutamate receptor delta family contributes to presynaptic terminal differentiation and establishment of synaptic transmission

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail

6 July 2018

1 reference

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MeCP2, a key contributor to neurological disease, activates and represses transcription

6 July 2018

1 reference

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Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes

6 July 2018

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Induction of pluripotent stem cells from adult human fibroblasts by defined factors

6 July 2018

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Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome.

6 July 2018

1 reference

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The story of Rett syndrome: from clinic to neurobiology

6 July 2018

1 reference

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MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number

6 July 2018

1 reference

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Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets

6 July 2018

1 reference

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Neurotransmitters and brain maturation: early paracrine actions of GABA and glutamate modulate neuronal migration

6 July 2018

1 reference

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A case-control association study between the GRID1 gene and schizophrenia in the Chinese Northern Han population

6 July 2018

1 reference

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Signaling in adult stem cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Rett syndrome: new clinical and molecular insights.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Rett syndrome and neuronal development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Purification of neuronal precursors from the adult mouse brain: comprehensive gene expression analysis provides new insights into the control of cell migration, differentiation, and homeostasis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Neurotransmitters as early signals for central nervous system development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

The rat delta-1 and delta-2 subunits extend the excitatory amino acid receptor family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Immunoprecipitation, immunoblotting, and immunocytochemistry studies suggest that glutamate receptor delta subunits form novel postsynaptic receptor complexes.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

On a unusual brain atrophy syndrome in hyperammonemia in childhood

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Molecular cloning of a cDNA encoding a novel member of the mouse glutamate receptor channel family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.81

Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.81

Early onset seizures and Rett-like features associated with mutations in CDKL5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.81

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.81

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.81

CDKL5 is a brain MeCP2 target gene regulated by DNA methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.81

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.81

Glutamate receptor δ1 induces preferentially inhibitory presynaptic differentiation of cortical neurons by interacting with neurexins through cerebellin precursor protein subtypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.81

Induction of excitatory and inhibitory presynaptic differentiation by GluD1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.81

Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.81

The glutamate receptor subunit delta1 is highly expressed in hair cells of the auditory and vestibular systems

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4172451

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24916645

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

24916645

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24916645%20AND%20SRC:MED&resulttype=core&format=json