ArticleScience advances2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
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In one paragraph
Article in Science advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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30citing papers in PubMed, 1 pooled it
8.4field-weighted citation impact, top 2% of its field
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.Human genomics · 2024Pooled it
- G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K-AKT-mTOR Signal Axis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.European journal of human genetics : EJHG · 2026Article
- Urine-Derived iPSC Neurospheres Uncover Proteomic Correlates of Clinical Severity in Dravet Syndrome.Journal of neurochemistry · 2026Article
- Review
- CAPRIN1 (Cell Cycle-Associated Protein 1)-Related Neurodevelopmental Disorder: A Novel Mutation With Ataxia.Cureus · 2026Article
- Biomolecular Condensates in Disease: Decoding the Material State and Engineering Precision Modulators.International journal of molecular sciences · 2026Review
- Chronic stress disrupts the network among stress granules, P-bodies, and motor proteins.bioRxiv : the preprint server for biology · 2026Article
- Stress-Induced Membraneless Organelles in Neurons: Bridging Liquid-Liquid Phase Separation and Neurodevelopmental Dysfunction.International journal of molecular sciences · 2025Review
- Targeting LINC02544/miR-497-5p/CAPRIN1 axis via exosome-based siRNA to overcome immunotherapy resistance in triple-negative breast cancer.Molecular medicine (Cambridge, Mass.) · 2025Article
- UBAP2L-driven stress granule formation links oxaliplatin resistance to gastric cancer.Communications biology · 2025Article
- Ribosome association inhibits stress-induced gene mRNA localization to stress granules.Genes & development · 2025Article
- β-propeller protein-associated neurodegeneration protein WDR45 regulates stress granule disassembly via phase separation with Caprin-1.Nature communications · 2025Article
- Genetic architecture of RNA editing, splicing and gene expression in schizophrenia.Human molecular genetics · 2025Article
- Posttranscriptional Control of Neural Progenitors Temporal Dynamics During Neocortical Development by Syncrip.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Glioinflammation: disease-associated microglia and astrocytes in psychiatric disorders, neurodegeneration, and senescence.Frontiers in cellular neuroscience · 2025Review
- Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations.PLoS genetics · 2025Article
- Tissue-specificeLife · 2024Article
- Apurinic/apyrimidinic endodeoxyribonuclease 1 (APE1) promotes stress granule formation via YBX1 phosphorylation in ovarian cancer.Cellular and molecular life sciences : CMLS · 2024Article
- The NSP3 protein of SARS-CoV-2 binds fragile X mental retardation proteins to disrupt UBAP2L interactions.EMBO reports · 2024Article
Corrections and comments
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Authors and funding
53 authors at 20 institutions in 7 countries.
Xiangbin JiaCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.ORCID 0000-0001-9363-9556
Shujie ZhangGenetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.ORCID 0000-0001-5220-0336
Senwei TanCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.ORCID 0000-0003-1878-2875
Bing DuCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
Mei HeCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
Haisong QinGenetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.ORCID 0000-0002-0353-8864
Jia ChenCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.ORCID 0000-0002-3888-0643
Xinyu DuanDepartment of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China.ORCID 0000-0002-4876-9447
Jingsi LuoGenetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
Fei ChenGenetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.ORCID 0000-0003-2413-214X
Luping OuyangGenetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.
Jian WangDepartment of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China.ORCID 0000-0003-3391-5250
Guodong ChenCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
Bin YuCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
Ge ZhangCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
Zimin ZhangCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
Yongqing LyuCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
Yi HuangMental Health Center, West China Hospital of Sichuan University, Chengdu 610000, China.
Jian JiaoMental Health Center, West China Hospital of Sichuan University, Chengdu 610000, China.
Jin Yun Helen ChenMassachusetts General Hospital Neurogenetics Unit, Department of Neurology, Massachusetts General Brigham, Boston, MA 02114, USA.
Kathryn J SwobodaCenter for Genomic Medicine, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-4593-6342
Emanuele AgoliniLaboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.
Antonio NovelliLaboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.
Chiara LeoniCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy.ORCID 0000-0002-4089-637X
Giuseppe ZampinoCenter for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy.ORCID 0000-0002-2661-4831
Gerarda CappuccioTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.ORCID 0000-0003-3934-2342
Nicola Brunetti-PierriTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.ORCID 0000-0002-6895-8819
Benedicte GerardInstitut de Génétique Médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.ORCID 0000-0002-0015-7425
Emmanuelle GinglingerService de Génétique, Centre Hospitalier de Mulhouse, Mulhouse, Alsace, France.ORCID 0000-0003-3454-4711
Julie RicherDepartment of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Hugh McMillanDepartment of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Canada.ORCID 0000-0001-8927-2018
Alexandre White-BrownChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8058-0177
Raphael A BernierDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Evangeline C Kurtz-NelsonDepartment of Pediatrics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.ORCID 0000-0002-9418-7915
Rachel K EarlDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Claartje MeddensAmsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, Netherlands.
Marielle AldersDepartment of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, Netherlands.
Meredith FuchsPediatrics and Genetics, Alpharetta, GA 30005, USA.
Roseline CaumesCHU Lille, Clinique de Génétique, Guy Fontaine, F-59000 Lille, France.
Perrine BrunelleInstitut de Génétique Médicale, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000 Lille, France.ORCID 0000-0002-3589-6885
Thomas SmolInstitut de Génétique Médicale, Université de Lille, ULR7364 RADEME, CHU Lille, F-59000 Lille, France.ORCID 0000-0002-0119-5896
Ryan KuehlDepartment of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ 08901, USA.
Debra-Lynn Day-SalvatoreDepartment of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ 08901, USA.
Kristin G MonaghanGeneDx, Gaithersburg, MD 20877, USA.
Michelle M MorrowGeneDx, Gaithersburg, MD 20877, USA.ORCID 0000-0001-9475-0934
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8246-4014
Zhengmao HuCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
Ling YuanCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.
Jieqiong TanCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.ORCID 0000-0003-0730-1095
Kun XiaCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.ORCID 0000-0001-8090-6002
Yiping ShenGenetic and Metabolic Central Laboratory, Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, China.ORCID 0000-0001-5820-0839
Hui GuoCenter for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University; Changsha, Hunan 410078, China.ORCID 0000-0002-1570-2545
Central South University · CNGuangxi Maternal and Child Health Hospital · CNUniversity of Washington · USBambino Gesù Children's Hospital · ITFederico II University Hospital · ITSaint Peter's University Hospital · USShanghai Children's Medical Center · CNSichuan University · CNUniversité de Lille · FRAgostino Gemelli University Polyclinic · ITAmsterdam University Medical Centers · NLArmy Medical University · CNBoston Children's Hospital · USCentre Hospitalier de Mulhouse · FRCentre Hospitalier Universitaire de Lille · FRChildren's Hospital of Eastern Ontario · CAHôpitaux Universitaires de Strasbourg · FRHoward Hughes Medical Institute · USIndiana University School of MedicineMassachusetts General Hospital · US
Funding
Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2MFACTORS THAT MODIFY INSULIN ACTIONR01DK002001 · NIDDK · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI BUSE, MARIA G · 1986 to 2012
$3.1MFactors that modify insulin actionR56DK002001 · NIDDK · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI BUSE, MARIA G · 2008 to 2008
$199kNIDDK NIH HHS R01 DK002001NIDDK NIH HHS R56 DK002001NIMH NIH HHS R01 MH101221
Abstract
Stress granules (SGs) are cytoplasmic assemblies in response to a variety of stressors. We report a new neurodevelopmental disorder (NDD) with common features of language problems, intellectual disability, and behavioral issues caused by de novo likely gene-disruptive variants in
Indexed as
DNA HelicasesNeurodevelopmental DisordersAnimalsMicePoly-ADP-Ribose Binding ProteinsRNA HelicasesRNA Recognition Motif ProteinsStress GranulesDNA HelicasesPoly-ADP-Ribose Binding ProteinsRNA HelicasesRNA Recognition Motif Proteins
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.