(Q36915445)

17 August 2017

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome (English)

1 reference

Xavier Estivill i Pallejà

17 August 2017

1 reference

1 reference

20

1 reference

17 August 2017

Stilianos Antonarakis

23

1 reference

17 August 2017

Claudia Canzonetta

1

0 references

Frédéric Delom

object named as

Frederic Delom

9

0 references

Janet Shipley

object named as

Janet Shipley

16

0 references

Elizabeth M. C. Fisher

22

object named as

Elizabeth M C Fisher

1 reference

17 August 2017

7

Christelle Borel

1 reference

17 August 2017

Claire Mulligan

2

1 reference

17 August 2017

Samuel Deutsch

3

1 reference

17 August 2017

Sandra Ruf

4

1 reference

17 August 2017

Aideen O'Doherty

5

1 reference

17 August 2017

Robert Lyle

6

1 reference

17 August 2017

Nathalie Lin-Marq

8

1 reference

17 August 2017

Jürgen Groet

10

1 reference

17 August 2017

Felix Schnappauf

11

1 reference

17 August 2017

Serena De Vita

12

1 reference

17 August 2017

Sharon Averill

13

1 reference

17 August 2017

John V Priestley

14

1 reference

17 August 2017

Joanne E Martin

15

1 reference

17 August 2017

Gareth Denyer

17

1 reference

17 August 2017

Charles J Epstein

18

1 reference

17 August 2017

Cristina Fillat

19

1 reference

17 August 2017

Victor L J Tybulewicz

21

1 reference

17 August 2017

Dean Nizetic

24

1 reference

17 August 2017

language of work or name

English

0 references

publication date

4 September 2008

1 reference

American Journal of Human Genetics

17 August 2017

1 reference

17 August 2017

83

1 reference

17 August 2017

3

1 reference

17 August 2017

388-400

1 reference

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

REST maintains self-renewal and pluripotency of embryonic stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

An extended transcriptional network for pluripotency of embryonic stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

SCFbeta-TRCP controls oncogenic transformation and neural differentiation through REST degradation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

An additional human chromosome 21 causes suppression of neural fate of pluripotent mouse embryonic stem cells in a teratoma model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

A new binding motif for the transcriptional repressor REST uncovers large gene networks devoted to neuronal functions.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Gene expression variation in Down's syndrome mice allows prioritization of candidate genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Nrsf silencing induces molecular and subcellular changes linked to neuronal plasticity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Calnexin-dependent regulation of tunicamycin-induced apoptosis in breast carcinoma MCF-7 cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

C21orf5, a new member of Dopey family involved in morphogenesis, could participate in neurological alterations and mental retardation in Down syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Distinct profiles of REST interactions with its target genes at different stages of neuronal development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Core transcriptional regulatory circuitry in human embryonic stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

An integrative genomics approach to infer causal associations between gene expression and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Chromosome 21 and down syndrome: from genomics to pathophysiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Activation of REST/NRSF target genes in neural stem cells is sufficient to cause neuronal differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Genetic analysis of genome-wide variation in human gene expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Genome-wide analysis of repressor element 1 silencing transcription factor/neuron-restrictive silencing factor (REST/NRSF) target genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

The MNB/DYRK1A protein kinase: genetic and biochemical properties

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

A small modulatory dsRNA specifies the fate of adult neural stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Dosage sensitivity and the evolution of gene families in yeast

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

The specificities of protein kinase inhibitors: an update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Results of a high-resolution genome screen of 437 Alzheimer's disease families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Mnb/Dyrk1A is transiently expressed and asymmetrically segregated in neural progenitor cells at the transition to neurogenic divisions.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Neuronal target genes of the neuron-restrictive silencer factor in neurospheres derived from fetuses with Down's syndrome: a gene expression study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

The kinase DYRK1A phosphorylates the transcription factor FKHR at Ser329 in vitro, a novel in vivo phosphorylation site

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Transchromosomal mouse embryonic stem cell lines and chimeric mice that contain freely segregating segments of human chromosome 21.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

A physical map of 30,000 human genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

The neuron-restrictive silencer element: a dual enhancer/silencer crucial for patterned expression of a nicotinic receptor gene in the brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Functional screening of 2 Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

The neuron-restrictive silencer factor (NRSF): a coordinate repressor of multiple neuron-specific genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

REST: a mammalian silencer protein that restricts sodium channel gene expression to neurons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

NRSF/REST is required in vivo for repression of multiple neuronal target genes during embryogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

A mouse model for Down syndrome exhibits learning and behaviour deficits.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

RE1 Silencing transcription factor maintains a repressive chromatin environment in embryonic hippocampal neural stem cells.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

REST and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Differentiation of mouse embryonic stem cells into a defined neuronal lineage

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2556438

The neuron restrictive silencer factor can act as an activator for dynamin I gene promoter activity in neuronal cells

4 December 2018

1 reference

12 December 2020

Specificity determinants of substrate recognition by the protein kinase DYRK1A

1 reference

12 December 2020

Abnormal synaptic plasticity in the Ts1Cje segmental trisomy 16 mouse model of Down syndrome

1 reference

12 December 2020

RE-1 silencer of transcription/neural restrictive silencer factor modulates ectodermal patterning during Xenopus development

1 reference

12 December 2020

10.1016/J.AJHG.2008.08.012

Identifiers

DOI

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dhfggl3uhfhp7i4vrewn4g7e6u

30 July 2022

release_dhfggl3uhfhp7i4vrewn4g7e6u

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dhfggl3uhfhp7i4vrewn4g7e6u

30 July 2022

https://api.fatcat.wiki/v0/release/dhfggl3uhfhp7i4vrewn4g7e6u

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/dhfggl3uhfhp7i4vrewn4g7e6u

PubMed publication ID

1 reference

30 July 2022