De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Authors
Keywords
-
Journal
Science Advances
Volume 8, Issue 33, Pages -
Publisher
American Association for the Advancement of Science (AAAS)
Online
2022-08-18
DOI
10.1126/sciadv.abo7112
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- The molecular biology of FMRP: new insights into fragile X syndrome
- (2021) Joel D. Richter et al. NATURE REVIEWS NEUROSCIENCE
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
- (2020) F. Kyle Satterstrom et al. CELL
- UBAP2L Forms Distinct Cores that Act in Nucleating Stress Granules Upstream of G3BP1
- (2020) Luca Cirillo et al. CURRENT BIOLOGY
- Oxidative stress regulates progenitor behavior and cortical neurogenesis
- (2020) Angela Chui et al. DEVELOPMENT
- Competing Protein-RNA Interaction Networks Control Multiphase Intracellular Organization
- (2020) David W. Sanders et al. CELL
- G3BP1 Is a Tunable Switch that Triggers Phase Separation to Assemble Stress Granules
- (2020) Peiguo Yang et al. CELL
- RNA-Induced Conformational Switching and Clustering of G3BP Drive Stress Granule Assembly by Condensation
- (2020) Jordina Guillén-Boixet et al. CELL
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
- (2020) Dennis Lal et al. Genome Medicine
- Neurodevelopmental Disorders: From Genetics to Functional Pathways
- (2020) Ilaria Parenti et al. TRENDS IN NEUROSCIENCES
- Evidence for 28 genetic disorders discovered by combining healthcare and research data
- (2020) Joanna Kaplanis et al. NATURE
- UBAP2L arginine methylation by PRMT1 modulates stress granule assembly
- (2019) Chuyu Huang et al. CELL DEATH AND DIFFERENTIATION
- Human 3D cellular model of hypoxic brain injury of prematurity
- (2019) Anca M. Pașca et al. NATURE MEDICINE
- Heat resilience in embryonic zebrafish revealed by an in vivo stress granule reporter
- (2019) Ruiqi Wang et al. JOURNAL OF CELL SCIENCE
- Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
- (2019) Hui Guo et al. Science Advances
- Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample
- (2019) Jian Jiao et al. JOURNAL OF MOLECULAR NEUROSCIENCE
- AnnotSV: an integrated tool for structural variations annotation
- (2018) Véronique Geoffroy et al. BIOINFORMATICS
- Context-Dependent and Disease-Specific Diversity in Protein Interactions within Stress Granules
- (2018) Sebastian Markmiller et al. CELL
- High-Density Proximity Mapping Reveals the Subcellular Organization of mRNA-Associated Granules and Bodies
- (2018) Ji-Young Youn et al. MOLECULAR CELL
- VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database
- (2018) F. Musacchia et al. BMC BIOINFORMATICS
- Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
- (2018) Bradley P. Coe et al. NATURE GENETICS
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- Integrative functional genomic analysis of human brain development and neuropsychiatric risks
- (2018) Mingfeng Li et al. SCIENCE
- BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data
- (2016) Vagheesh Narasimhan et al. BIOINFORMATICS
- UNR/CSDE1 Drives a Post-transcriptional Program to Promote Melanoma Invasion and Metastasis
- (2016) Laurence Wurth et al. CANCER CELL
- ATPase-Modulated Stress Granules Contain a Diverse Proteome and Substructure
- (2016) Saumya Jain et al. CELL
- G3BP–Caprin1–USP10 complexes mediate stress granule condensation and associate with 40S subunits
- (2016) Nancy Kedersha et al. JOURNAL OF CELL BIOLOGY
- Neural plasticity and behavior - sixty years of conceptual advances
- (2016) J. David Sweatt JOURNAL OF NEUROCHEMISTRY
- The rules and impact of nonsense-mediated mRNA decay in human cancers
- (2016) Rik G H Lindeboom et al. NATURE GENETICS
- Principles and Properties of Stress Granules
- (2016) David S.W. Protter et al. TRENDS IN CELL BIOLOGY
- Clinical application of whole-exome sequencing across clinical indications
- (2015) Kyle Retterer et al. GENETICS IN MEDICINE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
- (2015) Nara Sobreira et al. HUMAN MUTATION
- Stress-induced perinatal and transgenerational epigenetic programming of brain development and mental health
- (2015) Olena Babenko et al. NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
- (2015) Justin Cotney et al. Nature Communications
- A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
- (2015) Neil A. Miller et al. Genome Medicine
- VaRank: a simple and powerful tool for ranking genetic variants
- (2015) Véronique Geoffroy et al. PeerJ
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- Transcriptional landscape of the prenatal human brain
- (2014) Jeremy A. Miller et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism
- (2014) Sebastien M. Weyn-Vanhentenryck et al. Cell Reports
- Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
- (2013) Yong-hui Jiang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
- (2013) Lam S. Nguyen et al. HUMAN MOLECULAR GENETICS
- The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth
- (2013) Lachlan A. Jolly et al. HUMAN MOLECULAR GENETICS
- The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes
- (2013) Alicia Subtil-Rodríguez et al. NUCLEIC ACIDS RESEARCH
- Transcriptional co-regulation of neuronal migration and laminar identity in the neocortex
- (2012) K. Y. Kwan et al. DEVELOPMENT
- Transient Sequestration of TORC1 into Stress Granules during Heat Stress
- (2012) Terunao Takahara et al. MOLECULAR CELL
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
- (2011) Jennifer C. Darnell et al. CELL
- Spatio-temporal transcriptome of the human brain
- (2011) Hyo Jung Kang et al. NATURE
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Behavioural phenotyping assays for mouse models of autism
- (2010) Jill L. Silverman et al. NATURE REVIEWS NEUROSCIENCE
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- mRNA Localization: Gene Expression in the Spatial Dimension
- (2009) Kelsey C. Martin et al. CELL
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- RNA granules: post-transcriptional and epigenetic modulators of gene expression
- (2009) Paul Anderson et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- A Translational Profiling Approach for the Molecular Characterization of CNS Cell Types
- (2008) Myriam Heiman et al. CELL
- P bodies promote stress granule assembly inSaccharomyces cerevisiae
- (2008) J. Ross Buchan et al. JOURNAL OF CELL BIOLOGY
- Formation of stress granules inhibits apoptosis by suppressing stress-responsive MAPK pathways
- (2008) Kyoko Arimoto et al. NATURE CELL BIOLOGY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now