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

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7 June 2020

Francesca Mari

11

1 reference

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7 June 2020

Alessandra Renieri

14

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7 June 2020

Ilaria Meloni

15

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7 June 2020

author name string

Gabriella Livide

1

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7 June 2020

Mariangela Amenduni

3

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7 June 2020

Sonia Amabile

4

1 reference

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7 June 2020

Dag Yasui

5

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7 June 2020

Eleonora Calcagno

6

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7 June 2020

Caterina Lo Rizzo

7

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7 June 2020

Giulia De Falco

8

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7 June 2020

Cristina Ulivieri

9

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7 June 2020

Maria Antonietta Mencarelli

12

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7 June 2020

Johannes Wilhelm Hell

13

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7 June 2020

publication date

11 June 2014

1 reference

24916645

European Journal of Human Genetics

31 July 2017

published in

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7 June 2020

volume

23

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7 June 2020

issue

2

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7 June 2020

page(s)

195-201

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

7 June 2020

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

6 July 2018

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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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6 July 2018

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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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6 July 2018

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

6 July 2018

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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

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6 July 2018

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

6 July 2018

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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

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6 July 2018

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

6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

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6 July 2018

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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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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

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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

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6 July 2018

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6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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Neurotransmitters as early signals for central nervous system development

6 July 2018

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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

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

6 July 2018

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

6 July 2018

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6 July 2018

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

6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

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6 July 2018

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21 January 2018

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CDKL5 is a brain MeCP2 target gene regulated by DNA methylation

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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28 October 2018

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

28 October 2018

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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