Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling

(2020) Xiaomin Liu et al.   HUMAN MUTATION

Structure of nucleosome-bound human BAF complex

(2020) Shuang He et al.   SCIENCE

A Caenorhabditis elegans Model for Integrating the Functions of Neuropsychiatric Risk Genes Identifies Components Required for Normal Dendritic Morphology

(2020) Cristina Aguirre-Chen et al.   G3-Genes Genomes Genetics

Motor coordination impairment in children with autism spectrum disorder: a pilot study using Movement Assessment Battery for Children-2 Checklist

(2020) Giulia Purpura et al.   MINERVA PEDIATRICA

Cryo-EM structure of SWI/SNF complex bound to a nucleosome

(2020) Yan Han et al.   NATURE

Finding Suitable Clinical Endpoints for a Potential Treatment of a Rare Genetic Disease: the Case of ARID1B

(2020) Matthijs D. Kruizinga et al.   Neurotherapeutics

Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior

(2020) Amanda L. Smith et al.   Scientific Reports

Research and training in autism spectrum disorder to catalyze the next genomic and neuroscience revolutions

(2020) Sergiu P. Paşca et al.   MOLECULAR PSYCHIATRY

CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome

(2020) Tom Boerstler et al.   Stem Cell Research

Molecular mechanisms for targeted ASD treatments

(2020) Bernadette Basilico et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Hypothesis-driven investigations of diverse pharmacological targets in two mouse models of autism

(2019) Maya A. Rhine et al.   Autism Research

Significant contribution of intragenic deletions to ARID1B mutation spectrum

(2019) Svetlana Gorokhova et al.   GENETICS IN MEDICINE

Excitation-inhibition balance as a framework for investigating mechanisms in neuropsychiatric disorders

(2019) Vikaas S. Sohal et al.   MOLECULAR PSYCHIATRY

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfuntions in ARID1B mutations with Coffin–Siris syndrome

(2019) Caroline Demily et al.   PSYCHIATRIC GENETICS

Inhibitory interneurons mediate autism-associated behaviors via 4E-BP2

(2019) Shane Wiebe et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The gut microbiome in neurological disorders

(2019) John F Cryan et al.   LANCET NEUROLOGY

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

(2018) Georgia Vasileiou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes

(2018) Michele Gabriele et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Serum miRNA expression profiling reveals miR-486-3p may play a significant role in the development of autism by targeting ARID1B

(2018) Xueqian Jiao et al.   NEUROREPORT

Dysregulation of Parvalbumin Expression in the Cntnap2−/− Mouse Model of Autism Spectrum Disorder

(2018) Emanuel Lauber et al.   Frontiers in Molecular Neuroscience

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

(2018) Eline van der Sluijs et al.   GENETICS IN MEDICINE

Mechanisms Underlying Microbial-Mediated Changes in Social Behavior in Mouse Models of Autism Spectrum Disorder

(2018) Martina Sgritta et al.   NEURON

Development and Functional Diversification of Cortical Interneurons

(2018) Lynette Lim et al.   NEURON

Cortical interneuron function in autism spectrum condition

(2018) Jason W. Lunden et al.   PEDIATRIC RESEARCH

Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy

(2018) Miriam Kessi et al.   Frontiers in Neurology

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

(2017) Nuria C. Bramswig et al.   HUMAN GENETICS

Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice

(2017) Mihiro Shibutani et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Arbaclofen in fragile X syndrome: results of phase 3 trials

(2017) Elizabeth Berry-Kravis et al.   Journal of Neurodevelopmental Disorders

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

(2017) Dejan B. Budimirovic et al.   Journal of Neurodevelopmental Disorders

Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior

(2017) Eui-Man Jung et al.   NATURE NEUROSCIENCE

Mechanisms of action and regulation of ATP-dependent chromatin-remodelling complexes

(2017) Cedric R. Clapier et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity

(2017) James Gilbert et al.   Frontiers in Cellular Neuroscience

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

(2017) Cemre Celen et al.   eLife

Shifting brain inhibitory balance and connectivity of the prefrontal cortex of adults with autism spectrum disorder

(2017) L A Ajram et al.   Translational Psychiatry

And Then There Was Light: Perspectives of Optogenetics for Deep Brain Stimulation and Neuromodulation

(2017) Jean Delbeke et al.   Frontiers in Neuroscience

Mechanisms of ATP-Dependent Chromatin Remodeling Motors

(2016) Coral Y. Zhou et al.   Annual Review of Biophysics

ARID1Bmutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

(2016) Cyril Mignot et al.   BRAIN

Reduced GABAergic Action in the Autistic Brain

(2016) Caroline E. Robertson et al.   CURRENT BIOLOGY

Dendrite and spine modifications in autism and related neurodevelopmental disorders in patients and animal models

(2016) Verónica Martínez-Cerdeño   Developmental Neurobiology

Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal Neurons

(2016) Minhan Ka et al.   JOURNAL OF NEUROSCIENCE

Somatostatin-expressing neurons in cortical networks

(2016) Joanna Urban-Ciecko et al.   NATURE REVIEWS NEUROSCIENCE

GABAergic Interneurons in the Neocortex: From Cellular Properties to Circuits

(2016) Robin Tremblay et al.   NEURON

Prenatal Valproate Exposure Differentially Affects Parvalbumin-Expressing Neurons and Related Circuits in the Cortex and Striatum of Mice

(2016) Emanuel Lauber et al.   Frontiers in Molecular Neuroscience

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

(2015) Georgia Vasileiou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SWI/SNF Chromatin Remodeling and Human Malignancies

(2015) Julien Masliah-Planchon et al.   Annual Review of Pathology-Mechanisms of Disease

Pharmacological Management of Behavioral and Psychiatric Symptoms in Older Adults with Intellectual Disability

(2015) Nicole Eady et al.   DRUGS & AGING

Shank1 regulates excitatory synaptic transmission in mouse hippocampal parvalbumin-expressing inhibitory interneurons

(2015) Wenjie Mao et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Autistic spectrum disorders: A review of clinical features, theories and diagnosis

(2015) Marc Fakhoury   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Neurogliaform cells in cortical circuits

(2015) Linda Overstreet-Wadiche et al.   NATURE REVIEWS NEUROSCIENCE

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

(2015) Sacha B. Nelson et al.   NEURON

Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes

(2015) Aya Ito-Ishida et al.   NEURON

Prevalence of epilepsy among people with intellectual disabilities: A systematic review

(2015) Janet Robertson et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders

(2015) Alberto J. López et al.   Frontiers in Behavioral Neuroscience

Lack of parvalbumin in mice leads to behavioral deficits relevant to all human autism core symptoms and related neural morphofunctional abnormalities

(2015) M Wöhr et al.   Translational Psychiatry

Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics

(2015) C. Kadoch et al.   Science Advances

Papillary thyroid cancer in a patient with interstitial 6q25 deletion includingARID1B

(2014) Jaime Vengoechea et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Numerous BAF complex genes are mutated in Coffin-Siris syndrome

(2014) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

TheARID1Bphenotype: What we have learned so far

(2014) Gijs W.E. Santen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations inSMARCB1,SMARCA4,SMARCE1, andARID1A

(2014) Tomoki Kosho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The role of BAF (mSWI/SNF) complexes in mammalian neural development

(2014) Esther Y. Son et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission

(2014) T. Karayannis et al.   NATURE

Enhancement of Inhibitory Neurotransmission by GABA A Receptors Having α 2,3 -Subunits Ameliorates Behavioral Deficits in a Mouse Model of Autism

(2014) Sung Han et al.   NEURON

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

(2014) Joe C H Sim et al.   Orphanet Journal of Rare Diseases

Cortical parvalbumin and somatostatin GABA neurons express distinct endogenous modulators of nicotinic acetylcholine receptors

(2014) Michael P Demars et al.   Molecular Brain

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

(2013) Dagmar Wieczorek et al.   HUMAN MOLECULAR GENETICS

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

(2013) Gijs W.E. Santen et al.   HUMAN MUTATION

Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy

(2013) Cigall Kadoch et al.   NATURE GENETICS

From neural development to cognition: unexpected roles for chromatin

(2013) Jehnna L. Ronan et al.   NATURE REVIEWS GENETICS

GABA estimation in the brains of children on the autism spectrum: Measurement precision and regional cortical variation

(2013) W. Gaetz et al.   NEUROIMAGE

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Basis of Intellectual Disability

(2012) Jay W. Ellison et al.   Annual Review of Medicine

Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development

(2012) A. John et al.   DEVELOPMENT

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Interneuron dysfunction in psychiatric disorders

(2012) Oscar Marín   NATURE REVIEWS NEUROSCIENCE

Measuring the Maturity of the Fast-Spiking Interneuron Transcriptional Program in Autism, Schizophrenia, and Bipolar Disorder

(2012) Michael J. Gandal et al.   PLoS One

Ultrastructure of Synapses in the Mammalian Brain

(2012) K. M. Harris et al.   Cold Spring Harbor Perspectives in Biology

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

(2012) H. Y. Zoghbi et al.   Cold Spring Harbor Perspectives in Biology

GABAergic Circuit Dysfunctions in Neurodevelopmental Disorders

(2012) Bidisha Chattopadhyaya et al.   Frontiers in Psychiatry

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

(2011) Diana C Hargreaves et al.   CELL RESEARCH

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

(2011) C Halgren et al.   CLINICAL GENETICS

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

(2011) Alex S Nord et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

BDNF-Promoted Increases in Proximal Dendrites Occur via CREB-Dependent Transcriptional Regulation of Cypin

(2011) M. Kwon et al.   JOURNAL OF NEUROSCIENCE

The contribution of GABAergic dysfunction to neurodevelopmental disorders

(2011) Kartik Ramamoorthi et al.   TRENDS IN MOLECULAR MEDICINE

Alterations of GABAergic Signaling in Autism Spectrum Disorders

(2011) Rocco Pizzarelli et al.   NEURAL PLASTICITY

Inhibitory effect of N-adamantyl-3,4-dihydroxybenzamide on melanogenesis in melan-a cells and brown guinea pigs

(2010) Ho Sik Rho et al.   ARCHIVES OF DERMATOLOGICAL RESEARCH

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

(2010) L. Backx et al.   CYTOGENETIC AND GENOME RESEARCH

Mammalian SWI/SNF-A Subunit BAF250/ARID1 Is an E3 Ubiquitin Ligase That Targets Histone H2B

(2010) X. S. Li et al.   MOLECULAR AND CELLULAR BIOLOGY

Chromatin remodelling during development

(2010) Lena Ho et al.   NATURE

Thalamic Input to Distal Apical Dendrites in Neocortical Layer 1 Is Massive and Highly Convergent

(2009) Pablo Rubio-Garrido et al.   CEREBRAL CORTEX

Common circuit defect of excitatory-inhibitory balance in mouse models of autism

(2009) Nadine Gogolla et al.   Journal of Neurodevelopmental Disorders

ELKS2α/CAST Deletion Selectively Increases Neurotransmitter Release at Inhibitory Synapses

(2009) Pascal S. Kaeser et al.   NEURON

Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

(2008) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

BAF250B-Associated SWI/SNF Chromatin-Remodeling Complex Is Required to Maintain Undifferentiated Mouse Embryonic Stem Cells

(2008) Zhijiang Yan et al.   STEM CELLS