(Q33783758)

28542170

29 July 2017

title

Human mutations in integrator complex subunits link transcriptome integrity to brain development (English)

1 reference

29 July 2017

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Rachel Schot

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Leontine van Unen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Zheng Xia

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Matteo Cesaroni

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Andreas Kremer

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

13

William B Dobyns

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Renske Oegema

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Alice Brooks

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Sima Kheradmand Kia

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

A Jeannette M Hoogeboom

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Wei Li

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Maarten H Lequin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Marjon van Slegtenhorst

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Irenaeus F M de Coo

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Frans W Verheijen

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Peter J van der Spek

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Daphne Heijsman

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Eric J Wagner

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Maarten Fornerod

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Grazia M S Mancini

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

publication date

25 May 2017

1 reference

29 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

e1006809

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

11 June 2020

copyright license

start time

25 May 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageQuant

object named as

ImageQuant

2 references

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5466333/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

edgeR

object named as

EdgeR

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

cites work

Molecular basis for the interaction between Integrator subunits IntS9 and IntS11 and its functional importance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Integrator mediates the biogenesis of enhancer RNAs.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Fgf and Esrrb integrate epigenetic and transcriptional networks that regulate self-renewal of trophoblast stem cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Integrator: surprisingly diverse functions in gene expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Pausing of RNA polymerase II regulates mammalian developmental potential through control of signaling networks.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

The Integrator complex controls the termination of transcription at diverse classes of gene targets

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

SPTAN1 encephalopathy: distinct phenotypes and genotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Integrator complex regulates NELF-mediated RNA polymerase II pause/release and processivity at coding genes.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Integrator regulates transcriptional initiation and pause release following activation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Rbfox2-coordinated alternative splicing of Mef2d and Rock2 controls myoblast fusion during myogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Malformations of cortical development: clinical features and genetic causes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

RNA polymerase II pausing during development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

A general framework for estimating the relative pathogenicity of human genetic variants

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

The integrator complex subunit 6 (Ints6) confines the dorsal organizer in vertebrate embryogenesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Non-mRNA 3' end formation: how the other half lives

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Splitting hares and tortoises: a classification of neuronal immediate early gene transcription based on poised RNA polymerase II.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Paused Pol II coordinates tissue morphogenesis in the Drosophila embryo.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

An RNAi screen identifies additional members of the Drosophila Integrator complex and a requirement for cyclin C/Cdk8 in snRNA 3'-end formation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Emerging Roles of Alternative Pre-mRNA Splicing Regulation in Neuronal Development and Function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

snRNA 3' end formation requires heterodimeric association of integrator subunits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Arc in synaptic plasticity: from gene to behavior

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Neuronal activity-regulated gene transcription in synapse development and cognitive function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Alternative splicing takes shape during neuronal development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

The clinical spectrum of nodular heterotopias in children: report of 31 patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

EMAGE mouse embryo spatial gene expression database: 2010 update

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Regulation of vertebrate nervous system alternative splicing and development by an SR-related protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

RNA polymerase is poised for activation across the genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

RNA polymerase stalling at developmental control genes in the Drosophila melanogaster embryo

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

A chromatin landmark and transcription initiation at most promoters in human cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

A post-transcriptional regulatory switch in polypyrimidine tract-binding proteins reprograms alternative splicing in developing neurons

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Targeted disruption of the murine large nuclear KIAA1440/Ints1 protein causes growth arrest in early blastocyst stage embryos and eventual apoptotic cell death

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Polyadenylation factor CPSF-73 is the pre-mRNA 3'-end-processing endonuclease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Variation in alternative splicing across human tissues

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Future directions for epilepsy research

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Magnetic resonance imaging in childhood intractable partial epilepsies: pathologic correlations.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5466333

Malformations of cortical development and epilepsy in adult patients

28 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

A developmental and genetic classification for malformations of cortical development: update 2012

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

A subset of Drosophila integrator proteins is essential for efficient U7 snRNA and spliceosomal snRNA 3'-end formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Deleted in cancer 1 (DICE1) is an essential protein controlling the topology of the inner mitochondrial membrane in C. elegans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Phenotypic analysis of deflated/Ints7 function in Drosophila development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

The Integrator subunits function in hematopoiesis by modulating Smad/BMP signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Cellular and molecular mechanisms controlling the migration of neocortical interneurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Care for patients with ultra-rare disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Cross-regulation between an alternative splicing activator and a transcription repressor controls neurogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

A protocol for imaging alternative splicing regulation in vivo using fluorescence reporters in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

Neural differentiation of P19 carcinoma cells and primary neurospheres: cell morphology, proliferation, viability, and functionality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

CRISPR-Cas9 mediated genetic engineering for the purification of the endogenous integrator complex from mammalian cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1006809

10.1371/JOURNAL.PGEN.1006809

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28542170%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

28542170

1 reference