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

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

(2017) Rea M Lardelli et al.   NATURE GENETICS

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

(2017) Debbie L.C. van den Berg et al.   NEURON

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

(2017) Yixuan Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2016) David Baillat et al.   PROTEIN EXPRESSION AND PURIFICATION

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

(2015) Jeffrey R Skaar et al.   CELL RESEARCH

SPTAN1 encephalopathy: distinct phenotypes and genotypes

(2015) Jun Tohyama et al.   JOURNAL OF HUMAN GENETICS

Pausing of RNA Polymerase II Regulates Mammalian Developmental Potential through Control of Signaling Networks

(2015) Lucy H. Williams et al.   MOLECULAR CELL

Integrator mediates the biogenesis of enhancer RNAs

(2015) Fan Lai et al.   NATURE

Integrator: surprisingly diverse functions in gene expression

(2015) David Baillat et al.   TRENDS IN BIOCHEMICAL SCIENCES

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

(2015) Paulina A. Latos et al.   Nature Communications

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

(2014) Nadia Bahi-Buisson et al.   BRAIN

RNA polymerase II pausing during development

(2014) B. Gaertner et al.   DEVELOPMENT

Malformations of cortical development: clinical features and genetic causes

(2014) Renzo Guerrini et al.   LANCET NEUROLOGY

Integrator Regulates Transcriptional Initiation and Pause Release following Activation

(2014) Alessandro Gardini et al.   MOLECULAR CELL

Rbfox2-Coordinated Alternative Splicing of Mef2d and Rock2 Controls Myoblast Fusion during Myogenesis

(2014) Ravi K. Singh et al.   MOLECULAR CELL

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

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2014) Bernd Stadelmayer et al.   Nature Communications

Paused Pol II Coordinates Tissue Morphogenesis in the Drosophila Embryo

(2013) Mounia Lagha et al.   CELL

Cellular and molecular mechanisms controlling the migration of neocortical interneurons

(2013) Oscar Marín   EUROPEAN JOURNAL OF NEUROSCIENCE

Splitting Hares and Tortoises: A classification of neuronal immediate early gene transcription based on poised RNA polymerase II

(2013) R.N. Saha et al.   NEUROSCIENCE

The Integrator Complex Subunit 6 (Ints6) Confines the Dorsal Organizer in Vertebrate Embryogenesis

(2013) Lee D. Kapp et al.   PLoS Genetics

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

(2013) Natoya Peart et al.   Wiley Interdisciplinary Reviews-RNA

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

(2012) A. James Barkovich et al.   BRAIN

Mutation of a U2 snRNA Gene Causes Global Disruption of Alternative Splicing and Neurodegeneration

(2012) Yichang Jia et al.   CELL

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

(2012) L. T. Gehman et al.   GENES & DEVELOPMENT

snRNA 3' End Formation Requires Heterodimeric Association of Integrator Subunits

(2012) T. R. Albrecht et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2012) J. Chen et al.   RNA

Malformations of cortical development and epilepsy in adult patients

(2012) C.E. Papayannis et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Long-term survival in TARP syndrome and confirmation ofRBM10as the disease-causing gene

(2011) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Alternative splicing takes shape during neuronal development

(2011) Paula Grabowski   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

(2011) Myriam Srour et al.   EPILEPSIA

Cross-Regulation between an Alternative Splicing Activator and a Transcription Repressor Controls Neurogenesis

(2011) Bushra Raj et al.   MOLECULAR CELL

Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

(2011) P. Edery et al.   SCIENCE

Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I

(2011) H. He et al.   SCIENCE

Arc in synaptic plasticity: from gene to behavior

(2011) Erica Korb et al.   TRENDS IN NEUROSCIENCES

Care for patients with ultra-rare disorders

(2010) Raoul CM. Hennekam   European Journal of Medical Genetics

A Subset of Drosophila Integrator Proteins Is Essential for Efficient U7 snRNA and Spliceosomal snRNA 3'-End Formation

(2010) N. Ezzeddine et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2010) Kaya Bilgüvar et al.   NATURE

Regulation of Vertebrate Nervous System Alternative Splicing and Development by an SR-Related Protein

(2009) John A. Calarco et al.   CELL

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

(2009) S. Tao et al.   DEVELOPMENT

Phenotypic analysis ofdeflated/Ints7 function inDrosophiladevelopment

(2009) Rachael J. Rutkowski et al.   DEVELOPMENTAL DYNAMICS

EMAGE mouse embryo spatial gene expression database: 2010 update

(2009) Lorna Richardson et al.   NUCLEIC ACIDS RESEARCH