Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Santen, Gijs W E, Aten, Emmelien, Sun, Yu, Almomani, Rowida, Gilissen, Christian, Nielsen, Maartje, Kant, Sarina G, Snoeck, Irina N, Peeters, Els A J, Hilhorst-Hofstee, Yvonne, Wessels, Marja W, den Hollander, Nicolette S, Ruivenkamp, Claudia A L, van Ommen, Gert-Jan B, Breuning, Martijn H, den Dunnen, Johan T, van Haeringen, Arie, Kriek, Marjolein·2012·Nature Genetics
DOI 10.1038/ng.2217
Cited by (346)
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- Heterozygous variants inACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay Catherine Burrage, I-Wen Song, Brett H. Graham, Chester Brown, Servi J.C. Stevens, Alexander P.A. Stegmann, Andrew T. Gunter, Julie D. Kaplan et al. · 2017 · Human Mutation
- The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behaviorJeffrey J. Moffat, Eui‐Man Jung, Minhan Ka, Amanda L. Smith, Byeong Tak Jeon, Gijs W.E. Santen, Woo-Yang Kim · 2018 · Progress in Neuro-Psychopharmacology and Biological Psychiatry
- Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defectsAlina Filatova, Linda K. Rey, Marion Brigitte Lechler, Jörg Schaper, Maja Hempel, Renata Posmyk, Krzysztof Szczałuba, Gijs W.E. Santen, Dagmar Wieczorek, Ulrike A. Nuber · 2019 · Nature Communications
- Molecular mechanisms for targeted ASD treatmentsBernadette Basilico, Jasmin Morandell, Gaia Novarino · 2020 · Current Opinion in Genetics & Development
- Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndromeChristiane Zweier, Olaf Rittinger, Ingrid Bader, Siren Berland, Trevor R. P. Cole, Franziska Degenhardt, Nataliya Di Donato, Luitgard Margarete Graul-Neumann, Juliane Hoyer, Sally Ann Lynch et al. · 2014 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
- Epigenetic regulation in medulloblastomaJiaqing Yi, Jiang I. Wu · 2017 · Molecular and Cellular Neuroscience
- Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human diseaseAlejandro Sifrim, Jeroen K. J. Van Houdt, Léon-Charles Tranchevent, Beata Nowakowska, Ryo Sakai, Georgios A. Pavlopoulos, Koenraad Devriendt, Joris Robert Vermeesch, Yves Moreau, Jan A Aerts · 2012 · Genome Medicine
- Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua Natalie Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brügger, Katheryn Grand, Kirsty M. McWalter, María J. Guillen Sacoto et al. · 2021 · Science Advances
- Critical role of the BAF chromatin remodeling complex during murine neural crest developmentKathleen Wung Bi-Lin, Veerabrahma Pratap Seshachalam, Tran Tuoc, Anastassia Stoykova, Sujoy Ghosh, Manvendra Kumar Singh · 2021 · PLoS Genetics
- Deleting HDAC3 rescues long-term memory impairments induced by disruption of the neuron-specific chromatin remodeling subunit BAF53bGuanhua Shu, Enikö A. Kramár, Alberto J. López, Grace Huynh, Marcelo A. Wood, Janine L. Kwapis · 2018 · Learning & Memory
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- Mutation of neuron-specific chromatin remodeling subunit BAF53b: rescue of plasticity and memory by manipulating actin remodelingAnnie Vogel Ciernia, Enikö A. Kramár, Dina P. Matheos, Robbert Havekes, Thekla J. Hemstedt, Christophe N. Magnan, Keith Sakata, Ashley V. Tran, Soraya Azzawi, Alberto J. López et al. · 2017 · Learning & Memory
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- Neuronal activity-induced BRG1 phosphorylation regulates enhancer activationBongWoo Kim, Yi Luo, Xiaoming Zhan, Zilai Zhang, Xuanming Shi, Jiaqing Yi, Zhenyu Xuan, Jiang I. Wu · 2021 · Cell Reports
- Interstitial 6q25 microdeletion syndrome: ARID1B is the key geneLuisa Ronzoni, Francesco Tagliaferri, Arianna Tucci, Marco Baccarin, Susanna Esposito, Donatella Milani · 2016 · American Journal of Medical Genetics Part A
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- Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndromeJulia Schmidt, Bernd Wollnik · 2018 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
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- Human disease genes website series: An international, open and dynamic library for up‐to‐date clinical informationAlexander J.M. Dingemans, Diante E. Stremmelaar, Lisenka E.L.M. Vissers, Sandra Jansen, Maria João Nabais Sá, Angela van Remortele, Noraly Jonis, Kim M. G. Truijen, Sam van de Ven, Jeroen Ewals et al. · 2021 · American Journal of Medical Genetics Part A
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- The Rise and Rise of Exome SequencingChee‐Seng Ku, D.N. Cooper, George P. Patrinos · 2016 · Public Health Genomics
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- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactomeJohnathan M. Mayfield, Naomi L. Hitefield, Ignacy Czajewski, Lotte Vanhye, Laura L. Holden, Éva Morava, Daan M. F. van Aalten, Lance Wells · 2024 · Journal of Biological Chemistry
- Neuroepigenomics: resources, obstacles, and opportunitiesJohn S. Satterlee, Andrea C. Beckel-Mitchener, A. Roger Little, Dena C. Procaccini, Joni L. Rutter, Amy C. Lossie · 2015 · Neuroepigenetics
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- Akirin2 is essential for the formation of the cerebral cortexPeter Bösch, Leah C. Fuller, Carolyn M. Sleeth, Joshua A. Weiner · 2016 · Neural Development
- Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic featuresMarie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F. Ray, Caroline Bosson, Françoise Devillard, Daphné Lehalle, Valérie Malan et al. · 2016 · Genetics in Medicine
- Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B geneFatma Müjgan Sönmez, Eyyüp Üçtepe, Mehmet Gündüz, Zeliha Görmez, Seval Erpolat, Murat Oznur, Mahmut Şamil Sağıroğlu, Hüseyin Demirci, Esra Gündüz · 2016 · Intractable & Rare Diseases Research
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