Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
Open accessAbstract
Sequencing studies have implicated haploinsufficiency of ARID1B , a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). In addition, ARID1B is the most common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of the above abnormalities (Santen et al., 2012; Tsurusaki et al., 2012; Wieczorek et al., 2013). We generated Arid1b heterozygous mice, which showed social behavior impairment, altered vocalization, anxiety-like behavior, neuroanatomical abnormalities, and growth impairment. In the brain, Arid1b haploinsufficiency resulted in changes in the expression of SWI/SNF-regulated genes implicated in neuropsychiatric disorders. A focus on reversible mechanisms identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormone-releasing hormone (GHRH) and Growth hormone (GH), underappreciated findings in ARID1B patients. Therapeutically, GH supplementation was able to correct growth retardation and muscle weakness. This model functionally validates the involvement of ARID1B in human disorders, and allows mechanistic dissection of neurodevelopmental diseases linked to chromatin-remodeling.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
For some of these monogenic syndromes it has recently been shown that deficits in the structural development of the PFC underlie these problems.
“For some of these syndromes it has recently been shown that deficits in the structural development of the PFC underlie these problems [281–287].”
From Development of prefrontal cortex (2022) · cites this paper as [285]
The Results section (‘Arid1b haploinsufficiency resulted in neuroanatomical and gene expression abnormalities’; page unavailable) reports reduced cortical thickness and other brain abnormalities in Arid1b-mutant mice, alongside behavioral phenotypes. It calls these findings correlates, however; it does not identify a PFC-specific developmental deficit or show that such a deficit underlies the behavioral problems. (LLM, conf=0.84)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041 · see citing works
Robinson, M. D., McCarthy, D. J., & Smyth, G. K. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp616 · Cited by 41,364 · see citing works
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
Liao, Y., Smyth, G. K., & Shi, W. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btt656 · Cited by 27,219 · see citing works
HISAT: a fast spliced aligner with low memory requirements
Kim, D., Langmead, B., & Salzberg, S. L. (2015) · Nature Methods · doi:10.1038/nmeth.3317 · Cited by 24,112 · see citing works
(1943) · The Nervous child · Cited by 8,870 · see citing works
Genome-wide atlas of gene expression in the adult mouse brain
Lein, E. S., Hawrylycz, M. J., Ao, N., Ayres, M., Bensinger, A., Bernard, A., Boe, A. F., Boguski, M. S., Brockway, K. S., Byrnes, E. J., et al. (2007) · Nature · doi:10.1038/nature05453 · Cited by 5,572 · see citing works
GENCODE: The reference human genome annotation for The ENCODE Project
Harrow, J., Frankish, A., Gonzalez, J. M., Tapanari, E., Diekhans, M., Kokocinski, F., Aken, B. L., Barrell, D., Zadissa, A., Searle, S., et al. (2012) · Genome Research · doi:10.1101/gr.135350.111 · Cited by 4,585 · see citing works
Autistic disturbances of affective contact.
Kanner, L. (1968) · PubMed · Cited by 2,273 · see citing works
Behavioural phenotyping assays for mouse models of autism
Silverman, J. L., Yang, M., Lord, C., & Crawley, J. N. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2851 · Cited by 1,462 · see citing works
for the ENIGMA-Major Depressive Disorder Working Group, Schmaal, L., Hibar, D. P., Sämann, P. G., Hall, G. B., Baune, B. T., Jahanshad, N., Cheung, J. W., van Erp, T. G. M., Bos, D., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2016.60 · Cited by 1,330 · see citing works
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
O’Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., et al. (2012) · Science · doi:10.1126/science.1227764 · Cited by 1,240 · see citing works
Large-scale discovery of novel genetic causes of developmental disorders
Study, T. D. D. D. (2015) · Nature · doi:10.1038/nature14135 · Cited by 1,124 · see citing works
Chromatin remodelling during development
Ho, L., & Crabtree, G. R. (2010) · Nature · doi:10.1038/nature08911 · Cited by 1,114 · see citing works
Kadoch, C., & Crabtree, G. R. (2015) · Science Advances · doi:10.1126/sciadv.1500447 · Cited by 843 · see citing works
Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice
Tropea, D., Giacometti, E., Wilson, N. R., Beard, C., McCurry, C., Fu, D. D., Flannery, R., Jaenisch, R., & Sur, M. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812394106 · Cited by 593 · see citing works
From neural development to cognition: unexpected roles for chromatin
Ronan, J. L., Wu, W., & Crabtree, G. R. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3413 · Cited by 544 · see citing works
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi‐Ko, Y., Kaname, T., Naritomi, K., Kawame, H., Wakui, K., et al. (2012) · Nature Genetics · doi:10.1038/ng.2219 · Cited by 518 · see citing works
AutDB: a gene reference resource for autism research
Basu, S. N., Kollu, R., & Banerjee-Basu, S. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn835 · Cited by 394 · see citing works
Boldrini, M., Santiago, A. N., Hen, R., Dwork, A. J., Rosoklija, G. B., Tamir, H., Arango, V., & John Mann, J. (2013) · Neuropsychopharmacology · doi:10.1038/npp.2013.5 · Cited by 361 · see citing works
CHD8 haploinsufficiency results in autistic-like phenotypes in mice
Katayama, Y., Nishiyama, M., Shoji, H., Ohkawa, Y., Kawamura, A., Sato, T., Suyama, M., Takumi, T., Miyakawa, T., & Nakayama, K. I. (2016) · Nature · doi:10.1038/nature19357 · Cited by 353 · see citing works
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
Santen, G. W. E., Aten, E., Sun, Y., Almomani, R., Gilissen, C., Nielsen, M., Kant, S. G., Snoeck, I. N., Peeters, E. A. J., Hilhorst-Hofstee, Y., et al. (2012) · Nature Genetics · doi:10.1038/ng.2217 · Cited by 347 · see citing works
Self-citationHoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.02.007 · Cited by 263 · see citing works
Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett syndrome
Castro, J., Garcia, R. I., Kwok, S., Banerjee, A., Petravicz, J., Woodson, J., Mellios, N., Tropea, D., & Sur, M. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1311685111 · Cited by 242 · see citing works
Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmüller, J., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt366 · Cited by 223 · see citing works
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., et al. (2013) · Human Mutation · doi:10.1002/humu.22394 · Cited by 221 · see citing works
Self-citationAbnormal Speech Spectrum and Increased Pitch Variability in Young Autistic Children
Bonneh, Y. S., Levanon, Y., Dean-Pardo, O., Lossos, L., & Adini, Y. (2011) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2010.00237 · Cited by 172 · see citing works
Walker, A. K., Rivera, P. D., Wang, Q., Chuang, J.-C., Tran, S., Osborne-Lawrence, S., Estill, S. J., Starwalt, R., Huntington, P., Morlock, L., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.34 · Cited by 161 · see citing works
Self-citationHalgren, C., Kjaergaard, S., Bak, M., Hansen, C. S., El-Schich, Z., Anderson, C., Henriksen, K. F., Hjalgrim, H., Kirchhoff, M., Bijlsma, E. K., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01755.x · Cited by 144 · see citing works
Autism-related behavioral abnormalities in synapsin knockout mice
Greco, B., Managò, F., Tucci, V., Kao, H., Valtorta, F., & Benfenati, F. (2012) · Behavioural Brain Research · doi:10.1016/j.bbr.2012.12.015 · Cited by 134 · see citing works
FoxP1 orchestration of ASD-relevant signaling pathways in the striatum
Araujo, D. J., Anderson, A. G., Berto, S., Runnels, W., Harper, M., Ammanuel, S., Rieger, M. A., Huang, H.-C., Rajkovich, K., Loerwald, K. W., et al. (2015) · Genes & Development · doi:10.1101/gad.267989.115 · Cited by 111 · see citing works
The ARID1B phenotype: What we have learned so far
Santen, G. W. E., & Clayton‐Smith, J. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31414 · Cited by 94 · see citing works
Self-citationKa, M., Chopra, D. A., Dravid, S. M., & Kim, W.-Y. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.2321-15.2016 · Cited by 83 · see citing works
ARID1B-mediated disorders: Mutations and possible mechanisms
Sim, J. C. H., White, S. M., & Lockhart, P. J. (2014) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2014.01021 · Cited by 77 · see citing works
Dentate gyrus volume and memory performance in major depressive disorder
Travis, S., Coupland, N. J., Silversone, P. H., Huang, Y., Fujiwara, E., Carter, R., Seres, P., & Malykhin, N. V. (2015) · Journal of Affective Disorders · doi:10.1016/j.jad.2014.09.048 · Cited by 71 · see citing works
Persson, A., Sim, S. C., Virding, S., Onishchenko, N. R., Schulte, G., & Ingelman‐Sundberg, M. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.89 · Cited by 63 · see citing works
Tissue-specific SMARCA4 binding at active and repressed regulatory elements during embryogenesisPreprint
Attanasio, C., Nord, A. S., Zhu, Y., Blow, M. J., Biddie, S. C., Mendenhall, E. M., Dixon, J. R., Wright, C., Hosseini, R., Akiyama, J. A., et al. (2014) · Genome Research · doi:10.1101/gr.168930.113 · Cited by 59 · see citing works
Animal Models of Speech and Vocal Communication Deficits Associated With Psychiatric Disorders
Konopka, G., & Roberts, T. F. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.07.001 · Cited by 47 · see citing works
DeCarolis, N. A., Rivera, P. D., Ahn, F., Amaral, W. Z., Leblanc, J. A., Malhotra, S., Shih, H.-Y., Petrik, D., Melvin, N., Chen, B. P. C., et al. (2014) · Life sciences and space research · doi:10.1016/j.lssr.2014.06.004 · Cited by 36 · see citing works
Self-citationDe novo mutations in ARID1B associated with both syndromic and non-syndromic short stature
Yu, Y., Yao, R., Wang, L., Fan, Y., Huang, X., Hirschhorn, J. N., Dauber, A. N., & Shen, Y. (2015) · BMC Genomics · doi:10.1186/s12864-015-1898-1 · Cited by 35 · see citing works
Dandy-Walker variant in Coffin-Siris syndrome
Imai, T., Hattori, H., Miyazaki, M., Higuchi, Y., Adachi, S., & Nakahata, T. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1231 · Cited by 26 · see citing works
Is this the Coffin–Siris syndrome or the BOD syndrome?
Brautbar, A., Ragsdale, J. R., & Shinawi, M. S. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32671 · Cited by 13 · see citing works
BASSIO, W. A. D. (1987) · Elsevier eBooks · doi:10.1016/b978-0-409-90018-7.50039-6 · Cited by 11 · see citing works
First-in-man study with a novel PEGylated recombinant human insulin-like growth factor-I
Kletzl, H., Guenther, A., Höflich, A., Höflich, C., Frystyk, J., Staack, R. F., Schick, E., Wandel, C., Bleich, N., & Metzger, F. (2017) · Growth Hormone & IGF Research · doi:10.1016/j.ghir.2017.01.001 · Cited by 7 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Development of prefrontal cortex
Kolk, S. M., & Rakic, P. (2022) · Neuropsychopharmacology · doi:10.1038/s41386-021-01137-9 · Cited by 378 · see citing works
COMPASS and SWI/SNF complexes in development and disease
Cenik, B. K., & Shilatifard, A. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-0278-0 · Cited by 269 · see citing works
Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior
Jung, E., Moffat, J. J., Liu, J., Dravid, S. M., Gurumurthy, C. B., & Kim, W.-Y. (2017) · Nature Neuroscience · doi:10.1038/s41593-017-0013-0 · Cited by 177 · see citing works
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus
Furey, C. G., Choi, J., Jin, S. C., Zeng, X., Timberlake, A. T., Nelson-Williams, C. J., Mansuri, M. S., Lu, Q., Durán, D., Panchagnula, S., et al. (2018) · Neuron · doi:10.1016/j.neuron.2018.06.019 · Cited by 147 · see citing works
Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder
Yoon, S. H., Choi, J., Lee, W. Y., & Do, J. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9040966 · Cited by 156 · see citing works
van der Sluijs, P. J., Jansen, S., Vergano, S. A. S., Adachi-Fukuda, M., Alanay, Y., Al‐Kindy, A., Baban, A., Bayat, A., Beck‐Wödl, S., Berry, K. A., et al. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0330-z · Cited by 130 · see citing works
Self-citationMossink, B., Negwer, M., Schubert, D., & Nadif Kasri, N. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03714-5 · Cited by 114 · see citing works
Chromatin remodellers as therapeutic targets
Malone, H. A., & Roberts, C. W. M. (2024) · Nature Reviews Drug Discovery · doi:10.1038/s41573-024-00978-5 · Cited by 109 · see citing works
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes
Matsumura, K., Seiriki, K., Okada, S., Nagase, M., Ayabe, S., Yamada, I., Furuse, T., Shibuya, H., Yasuda, Y., Yamamori, H., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-14697-z · Cited by 106 · see citing works
The Tumor Suppressor ARID1A Controls Global Transcription via Pausing of RNA Polymerase II
Trizzino, M., Barbieri, E., Petracovici, A., Wu, S., Welsh, S. A., Owens, T. A., Licciulli, S., Zhang, R., & Gardini, A. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.05.097 · Cited by 97 · see citing works
Lifelong restructuring of 3D genome architecture in cerebellar granule cells
Tan, L., Shi, J., Moghadami, S., Wright, C. P., Parasar, B., Seo, Y., Vallejo, K., Cobos, I., Duncan, L. E., Chen, R., et al. (2023) · Science · doi:10.1126/science.adh3253 · Cited by 84 · see citing works
Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice
Shibutani, M., Horii, T., Shoji, H., Morita, S., Kimura, M., Terawaki, N., Miyakawa, T., & Hatada, I. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18091872 · Cited by 72 · see citing works
Rea, V., & Raay, T. J. V. (2020) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2020.575575 · Cited by 75 · see citing works
Dougnon, G., & Matsui, H. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23147550 · Cited by 71 · see citing works
Ho, P. J., Lloyd, S. M., & Bao, X. (2019) · Development · doi:10.1242/dev.178780 · Cited by 66 · see citing works
Wenderski, W., Wang, L., Krokhotin, A., Walsh, J. J., Li, H., Shoji, H., Ghosh, S. G., George, R. D., Miller, E. L., Elias, L., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1908238117 · Cited by 59 · see citing works
What we can learn from a genetic rodent model about autism
Möhrle, D., Fernández, M. C., Peñagarikano, O., Frick, A., Allman, B. L., & Schmid, S. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.12.015 · Cited by 59 · see citing works
Dual ARID1A/ARID1B loss leads to rapid carcinogenesis and disruptive redistribution of BAF complexes
Wang, Z., Chen, K., Jia, Y., Chuang, J.-C., Sun, X., Lin, Y.-H., Celen, C., Li, L., Huang, F., Liu, X., et al. (2020) · Nature Cancer · doi:10.1038/s43018-020-00109-0 · Cited by 60 · see citing works
Self-citationWalsh, J. J., Llorach, P., Cardozo Pinto, D. F., Wenderski, W., Christoffel, D. J., Salgado, J. S., Heifets, B. D., Crabtree, G. R., & Malenka, R. C. (2021) · Neuropsychopharmacology · doi:10.1038/s41386-021-01091-6 · Cited by 56 · see citing works
Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders
Moffat, J. J., Smith, A. L., Jung, E., Ka, M., & Kim, W.-Y. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01060-x · Cited by 52 · see citing works
Kissel, L. T., & Werling, D. M. (2022) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.11.023 · Cited by 46 · see citing works
Martins‐Costa, C., Wiegers, A., Pham, V. A., Sidhaye, J., Doleschall, B., Novatchkova, M., Lendl, T., Piber, M., Peer, A. M., Möseneder, P., et al. (2024) · Cell stem cell · doi:10.1016/j.stem.2024.04.014 · Cited by 55 · see citing works
Resolving the Synaptic versus Developmental Dichotomy of Autism Risk Genes
Heavner, W. E., & Smith, S. E. P. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.01.009 · Cited by 48 · see citing works
Pagliaroli, L., & Trizzino, M. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.643361 · Cited by 40 · see citing works
Recent advances in branching mechanisms underlying neuronal morphogenesis
Menon, S., & Gupton, S. L. (2018) · F1000Research · doi:10.12688/f1000research.16038.1 · Cited by 39 · see citing works
Silverman, J. L., & Ellegood, J. (2018) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000537 · Cited by 35 · see citing works
Smith, A. L., Jung, E., Jeon, B. T., & Kim, W.-Y. (2020) · Scientific Reports · doi:10.1038/s41598-020-64066-5 · Cited by 33 · see citing works
Ellegood, J., Petkova, S. P., Kinman, A. I., Qiu, L. R., Adhikari, A., Wade, A. A., Fernandes, D., Lindenmaier, Z., Creighton, A., Nutter, L. M. J., et al. (2021) · Molecular Autism · doi:10.1186/s13229-021-00432-y · Cited by 33 · see citing works
Convergence of spectrums: neuronal gene network states in autism spectrum disorder
Sullivan, J. M., Rubeis, S. D., & Schaefer, A. (2019) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2019.04.011 · Cited by 30 · see citing works
Epigenetics and memory: an expanded role for chromatin dynamics
Zovkic, I. B. (2020) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2020.08.007 · Cited by 32 · see citing works
Paraspeckles interact with SWI/SNF subunit ARID1B to regulate transcription and splicing
Reddy, D., Bhattacharya, S., Levy, M. J., Zhang, Y., Gogol, M., Li, H., Florens, L. A., & Workman, J. L. (2022) · EMBO Reports · doi:10.15252/embr.202255345 · Cited by 32 · see citing works
The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior
Moffat, J. J., Jung, E., Ka, M., Smith, A. L., Jeon, B. T., Santen, G. W. E., & Kim, W.-Y. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2018.08.021 · Cited by 30 · see citing works
Self-citationMutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
Filatova, A., Rey, L. K., Lechler, M. B., Schaper, J., Hempel, M., Posmyk, R., Szczałuba, K., Santen, G. W. E., Wieczorek, D., & Nuber, U. A. (2019) · Nature Communications · doi:10.1038/s41467-019-10849-y · Cited by 31 · see citing works
Self-citationMolecular mechanisms for targeted ASD treatments
Basilico, B., Morandell, J., & Novarino, G. (2020) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2020.06.004 · Cited by 30 · see citing works
Experimental Models to Study Autism Spectrum Disorders: hiPSCs, Rodents and Zebrafish
Pensado‐López, A., Veiga-Rúa, S., Carracedo, Á., Allegue, C., & Sanchez, L. E. (2020) · Genes · doi:10.3390/genes11111376 · Cited by 31 · see citing works
Darbandi, S. F., An, J., Lim, K. J., Page, N. F., Liang, L., Young, D. M., Ypsilanti, A. R., State, M. W., Nord, A. S., Sanders, S., et al. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114329 · Cited by 32 · see citing works
Integrated Transcriptome Analyses Revealed Key Target Genes in Mouse Models of Autism
Duan, W., Wang, K., Duan, Y., Chu, X., Ma, R., Hu, P., & Xiong, B. (2019) · Autism Research · doi:10.1002/aur.2240 · Cited by 27 · see citing works
Reprogramming of the epigenome in neurodevelopmental disorders
Wilson, K., Porter, E. G. P., & Garcia, B. A. (2021) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.1080/10409238.2021.1979457 · Cited by 27 · see citing works
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling
Liu, X., Hu, G., Ye, J., Ye, B., Shen, N., Tao, Y., Zhang, X., Fan, Y., Liu, H., Zhang, Z., et al. (2020) · Human Mutation · doi:10.1002/humu.23990 · Cited by 27 · see citing works
Ford, T. J. L., Jeon, B. T., Lee, H., & Kim, W.-Y. (2023) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.1048713 · Cited by 24 · see citing works
Moffat, J. J., Jung, E., Ka, M., Jeon, B. T., Lee, H., & Kim, W.-Y. (2021) · Scientific Reports · doi:10.1038/s41598-021-82974-y · Cited by 23 · see citing works
Yang, Q., Zhai, Y., Wang, H., Cai, Y., Ma, X., Yin, Y., Li, Y., Zhou, G., Zhang, X., Hu, G., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2021.109127 · Cited by 22 · see citing works
Pal, A., Goel, F., & Garg, V. K. (2025) · Neurogenetics · doi:10.1007/s10048-025-00828-5 · Cited by 19 · see citing works
Kim, H., Kim, D., Cho, Y., Kim, K., Roh, J. D., Kim, Y., Yang, E., Kim, S. S., Ahn, S., Kim, H., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-32748-5 · Cited by 19 · see citing works
Arid1a loss potentiates pancreatic β-cell regeneration through activation of EGF signaling
Celen, C., Chuang, J.-C., Shen, S., Li, L., Maggiore, G., Jia, Y., Luo, X., Moore, A., Wang, Y., Otto, J. E., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111581 · Cited by 20 · see citing works
Self-citationGuerreiro, S. R., & Maciel, P. (2023) · Cells · doi:10.3390/cells12040538 · Cited by 20 · see citing works
Chromatin remodelling complexes in cerebral cortex development and neurodevelopmental disorders
D’Souza, L., Channakkar, A. S., & Muralidharan, B. (2021) · Neurochemistry International · doi:10.1016/j.neuint.2021.105055 · Cited by 19 · see citing works
Differential roles of BAF and PBAF subunits, Arid1b and Arid2, in MLL-AF9 leukemogenesis
Bluemn, T., Schmitz, J., Zheng, Y., Burns, R., Zheng, S., DeJong, J., Christiansen, L., Arnold, O., Izaguirre-Carbonell, J., Wang, D., et al. (2022) · Leukemia · doi:10.1038/s41375-021-01505-w · Cited by 18 · see citing works
Shivaswamy, T., de Souza, R. R., Engineer, C. T., & McIntyre, C. K. (2022) · Journal of Psychiatry and Brain Science · doi:10.20900/jpbs.20220007 · Cited by 20 · see citing works
SWI/SNF Complex Connects Signaling and Epigenetic State in Cells of Nervous System
Chmykhalo, V. K., Deev, R. V., Tokarev, A. T., Polunina, Y. A., Xue, L., & Shidlovskii, Y. V. (2024) · Molecular Neurobiology · doi:10.1007/s12035-024-04355-6 · Cited by 17 · see citing works
Mayfield, J. M., Hitefield, N. L., Czajewski, I., Vanhye, L., Holden, L. L., Morava, É., van Aalten, D. M. F., & Wells, L. (2024) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2024.107599 · Cited by 17 · see citing works
Sandhu, A., Kumar, A., Rawat, K., Gautam, V., Sharma, A., & Saha, L. (2023) · World Journal of Clinical Cases · doi:10.12998/wjcc.v11.i14.3114 · Cited by 16 · see citing works
Jee, Y. H., Gangat, M., Yeliosof, O., Temnycky, A. G., Vanapruks, S., Whalen, P. E., Gourgari, E., Bleach, C. C., Yu, C., Marshall, I. H., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.697549 · Cited by 15 · see citing works
Prenatal genetic testing in 19 fetuses with corpus callosum abnormality
She, Q., Tang, E., Peng, C., Wang, L., Wang, D., & Tan, W. (2021) · Journal of Clinical Laboratory Analysis · doi:10.1002/jcla.23971 · Cited by 15 · see citing works
Protein destabilization underlies pathogenic missense mutations in ARID1B
Mermet‐Meillon, F., Mercan, S., Bauer-Probst, B., Allard, C., Bleu, M., Calkins, K., Knehr, J., Altorfer, M., Naumann, U., Sprouffske, K., et al. (2024) · Nature Structural & Molecular Biology · doi:10.1038/s41594-024-01229-2 · Cited by 13 · see citing works
Molinaro, G., Bowles, J. E., Croom, K., Gonzalez, D., Mirjafary, S., Birnbaum, S. G., Razak, K. A., Gibson, J. R., & Huber, K. M. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114056 · Cited by 13 · see citing works
Self-citationAguirre-Chen, C., Stec, N., Ramos, O. M., Kim, N., Kramer, M., McCarthy, S., Gillis, J. A., McCombie, W. R., & Hammell, C. M. (2020) · G3 Genes Genomes Genetics · doi:10.1534/g3.119.400925 · Cited by 13 · see citing works
Murta, V., Seiffe, A., & Depino, A. M. (2023) · Sexes · doi:10.3390/sexes4030024 · Cited by 12 · see citing works
Vergano, S. A. S., van der Sluijs, P. J., & Santen, G. W. E. (2019) · Europe PMC (PubMed Central) · Cited by 12 · see citing works
Self-citationDeogharkar, A., Singh, S. V., Bharambe, H. S., Paul, R., Moiyadi, A. V., Goel, A. H., Shetty, P. M., Epari, S., Gupta, T., Jalali, R., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab134 · Cited by 12 · see citing works
Davoudi, P., Ngoc, D., Colombo, S. M., Rathgeber, B. M., Sargolzaei, M., Plastow, G. S., Wang, Z., Hu, G., Valipour, S., & Miar, Y. (2024) · Scientific Reports · doi:10.1038/s41598-023-50497-3 · Cited by 11 · see citing works
Demily, C., Duwime, C., Lopez, C., Hemimou, C., Poisson, A., Plasse, J., Robert, M. P. A., Denier, C., Rossi, M., Nicolas Franck, B., et al. (2019) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000225 · Cited by 10 · see citing works
Lu, G., Peng, Q., Wu, L., Zhang, J., & Ma, L. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-01119-2 · Cited by 10 · see citing works
Transcription Pause and Escape in Neurodevelopmental Disorders
Eigenhuis, K. N., Somsen, H. B., & van den Berg, D. L. C. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.846272 · Cited by 8 · see citing works
Zhang, M., Guo, T., Pei, F., Feng, J., Jing, J., Xu, J., Yamada, T., Ho, T., Du, J., Sehgal, P., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-48285-2 · Cited by 9 · see citing works
Lo, T., Kushima, I., Aleksić, B., Kato, H., Nawa, Y., Hayashi, Y., Otgonbayar, G., Kimura, H., Arioka, Y., Mori, D., et al. (2022) · International Review of Psychiatry · doi:10.1080/09540261.2022.2072193 · Cited by 8 · see citing works
Pleiotropic effects of a high confidence Autism Spectrum Disorder gene, arid1b, on zebrafish sleep
Doldur-Balli, F., Zimmerman, A. J., Keenan, B. T., Shetty, Z. Y., Grant, S. F. A., Seiler, C., Veatch, O. J., & Pack, A. I. (2023) · Neurobiology of Sleep and Circadian Rhythms · doi:10.1016/j.nbscr.2023.100096 · Cited by 9 · see citing works
Growth charts for individuals with Coffin‐Siris syndrome
McCague, E. A., Lamichhane, R., Holt, N., & Vergano, S. A. S. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61823 · Cited by 9 · see citing works
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature
Kang, E., Kang, M., Ju, Y., Lee, S.-J., Lee, Y., Woo, D., Sung, Y. H., Baek, I., Shim, W. H., Son, W., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2020-107111 · Cited by 9 · see citing works
ARID2, a Rare Cause of Coffin–Siris Syndrome: A Clinical Description of Two Cases
Wang, X., Wu, H., Hui, S., Wang, L., & Chen, L. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2022.911954 · Cited by 8 · see citing works
Purushotham, S. S., Reddy, N. M. N., D’Souza, M. N., Choudhury, N. R., Ganguly, A., Gopalakrishna, N., Muddashetty, R. S., & Clement, J. P. (2022) · Experimental Brain Research · doi:10.1007/s00221-022-06448-x · Cited by 8 · see citing works
Xia, D., Deng, S., Gao, C., Li, X., Zhang, L., Xiao, X., Peng, X., Zhang, J., He, Z., Meng, Z., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63139 · Cited by 7 · see citing works
Elucidating neuroepigenetic mechanisms to inform targeted therapeutics for brain disorders
Weekley, B. H., Ahmed, N. I., & Maze, I. S. (2025) · iScience · doi:10.1016/j.isci.2025.112092 · Cited by 7 · see citing works
Brugmans, A. K., Walter, C., Moreno, N., Göbel, C., Holdhof, D., de Faria, F. W., Hotfilder, M., Jeising, D., Frühwald, M. C., Skryabin, B. V., et al. (2023) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-023-01361-5 · Cited by 6 · see citing works
Lian, S. W. M., Ting, T. W., Lai, A., Tan, E. S., Wei, H., Cham, B., & Tan, E. (2020) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2020.116819 · Cited by 6 · see citing works
De novo variants disrupt an LDB1 -regulated transcriptional network in congenital ventriculomegaly
Allington, G., Mehta, N. H., Dennis, E., Mekbib, K. Y., Reeves, B. C., Kiziltug, E., Chen, S., Zhao, S., Duy, P. Q., Saleh, M., et al. (2024) · Brain · doi:10.1093/brain/awae395 · Cited by 5 · see citing works
Herzeg, A., Borges, B., Diafos, L. N., Gupta, N. M., MacKenzie, T. C., & Sanders, S. (2024) · Prenatal Diagnosis · doi:10.1002/pd.6654 · Cited by 5 · see citing works
Boerstler, T., Wend, H., Krumbiegel, M., Kavyanifar, A., Reis, A., Lie, D. C., Winner, B., & Turan, S. (2020) · Stem Cell Research · doi:10.1016/j.scr.2020.101889 · Cited by 5 · see citing works
Maili, L., Ruiz, O. E., Kahan, P. H., Chiu, F., Larson, S. T., Hashmi, S. S., Hecht, J. T., & Eisenhoffer, G. T. (2023) · Disease Models & Mechanisms · doi:10.1242/dmm.049868 · Cited by 5 · see citing works
Autism spectrum disorder and Coffin–Siris syndrome—Case report
Milutinovic, L., Grujičić, R., Mandić-Maravić, V., Joksić, I., Ljubomirovic, N., & Pejovic-Milovancevic, M. M. (2023) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2023.1199710 · Cited by 5 · see citing works
Liu, F., Ying, J., Yang, K., Xiong, X., Yang, N., Wang, S., Zhao, W., Zhu, H., Yu, M., Wu, J., et al. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114916 · Cited by 4 · see citing works
Self-citationBerg, E. L., & Silverman, J. L. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-816393-1.00010-5 · Cited by 4 · see citing works
Ke, N.-Y., Zhao, T., Wang, W., Qian, Y.-T., & Liu, C. (2023) · World Journal of Stem Cells · doi:10.4252/wjsc.v15.i4.235 · Cited by 4 · see citing works
ARID1B gene mutation in a patient with Coffin-Siris syndrome and Autism Spectrum Disorder
Üstün, N. S. G. (2019) · Dusunen Adam The Journal of Psychiatry and Neurological Sciences · doi:10.14744/dajpns.2019.00051 · Cited by 4 · see citing works
SS18::SSX redistributes BAF chromatin remodelers selectively to activate and repress transcriptionPreprint
Li, J., Li, L., Smith-Fry, K., Wilmot, Z. F., Carroll, L. S., Morrison, L. C., Ge, X., Nelson, M., Hill, L. A., Zhang, X., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.05.14.594253 · Cited by 4 · see citing works
Li, J., Li, L., Smith-Fry, K., Fadlullah, M. Z. H., Carroll, L., Morrison, L., Ge, X., Nelson, M. L., Hill, L. A., Guo, Y., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-67841-y · Cited by 3 · see citing works
van der Sluijs, P. J., Pour, K. S., Berends, C. L., Kruizinga, M. D., Müller, A. R., van Eeghen, A. M., Rodríguez‐Girondo, M., Juachon, M. J., Steenbeek, D., Cohen, A. F., et al. (2024) · Journal of Medical Genetics · doi:10.1136/jmg-2024-109951 · Cited by 3 · see citing works
Self-citationArnold, O., Bluemn, T., Stelloh, C. T., Rao, S., & Zhu, N. (2024) · PLoS ONE · doi:10.1371/journal.pone.0312616 · Cited by 3 · see citing works
Mouskou, S., Leka-Emiri, S., Korona, A., Mastroyanni, S., Manolakos, E., Papoulidis, I., Sekouris, N., Katerelos, A., Katsarou, E., & Voudris, K. A. (2022) · Molecular Syndromology · doi:10.1159/000522532 · Cited by 2 · see citing works
ASXL3 controls cortical neuron fate specification through extrinsic self-renewal pathwaysPreprint
McGrath, B., Wu, P., Salvi, S., Girgla, N. S., Chen, X., Zhu, J., KC, R., Tsan, Y.-C., Moccia, A., Srivastava, A., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.07.20.452995 · Cited by 2 · see citing works
Aberrant neural stem cell quiescence is the gateway to autism development linked to Arid1b
Cho, B., Kim, H., An, S., Hwang, Y., Kwon, D., Park, J.-H., Lengner, C. J., & Kim, J. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03174-y · Cited by 1 · see citing works
Developmental genetic determinants of the human cerebrospinal fluid–ventricular system
Allington, G., Dennis, E., Li, Q., McGee, S., Mehta, N. H., Mekbib, K. Y., Hatada, I., Weston, M. C., Shore, A. N., Cullen, E. R., et al. (2026) · Science Translational Medicine · doi:10.1126/scitranslmed.aec4386 · Cited by 1 · see citing works
Genetic background determines synaptic phenotypes in Arid1b-mutant mice
Kim, H., & Kim, E. (2024) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2023.1341348 · Cited by 1 · see citing works
Harauma, A., Sueyasu, T., Tokuda, H., Yasuda, H., Hoshi, Y., Kaneda, Y., Rogi, T., Shibata, H., Nakamura, M., & Moriguchi, T. (2020) · Prostaglandins Leukotrienes and Essential Fatty Acids · doi:10.1016/j.plefa.2020.102079 · Cited by 1 · see citing works
zFACE: Facial Analytics from a Coordinate Extrapolation System for Developing ZebrafishPreprint
Maili, L., Ruiz, O. E., Kahan, P. H., Larson, S. T., Hashmi, S. S., Hecht, J. T., & Eisenhoffer, G. T. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.07.26.501188 · Cited by 1 · see citing works
Autism-associated transcriptional regulators target shared loci proximal to brain-expressed genesPreprint
Darbandi, S. F., An, J., Lim, K. J., Page, N. F., Liang, L., Ypsilanti, A. R., Markenscoff-Papadimitriou, E., State, M. W., Nord, A. S., Sanders, S., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.10.17.512583 · Cited by 1 · see citing works
Marshall, A. H., Hanson, M. A., Boyle, D. J., Nagarajan, D., Bibi, N., Fitzgerald, J., Gaitten, E., Kokiko‐Cochran, O. N., Gu, B., & Wester, J. C. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.04.597344 · Cited by 1 · see citing works
Marshall, A. H., Boyle, D. J., Hanson, M. A., Nagarajan, D., Bibi, N., Safa, A., Johantges, A. C., & Wester, J. C. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.07.597984 · Cited by 1 · see citing works
Ellegood, J., Petkova, S. P., Kinman, A. I., Qiu, L. R., Wade, A. A., Fernandes, D., Lindenmaier, Z., Crieghton, A., Nutter, L. M. J., Nord, A. S., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.03.31.017905
- Authors
- Celen, C., Chuang, J.-C., Luo, X., Nijem, N., Walker, A. K., Chen, F., Zhang, S., Chung, A. S., Nguyen, L. H., Nassour, I., Budhipramono, A., Sun, X., Bok, L. A., McEntagart, M., Gevers, E. F., Birnbaum, S. G., Eisch, A. J., Powell, C. M., Ge, W.-P., Santen, G. W., Chahrour, M., & Zhu, H.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- Máxima Medisch Centrum (NL)
- Great Ormond Street Hospital (GB)
- Queen Mary University of London (GB)
- Children's Hospital of Philadelphia (US)
- Leiden University Medical Center (NL)
- Corresponding author
- Zhu, Hao
- ORCID
- Venue
- eLife
- Publisher
- eLife Sciences Publications, Ltd
- Published
- 2017-07-11
- Volume
- 6
- ISSN
- 2050-084X (ISSN-L)
- PMC
- PMC5515576
- OpenAlex
- W2734654523
- Cited by
- 113
- References
- 43
- Citations by year
- 2026: 7 · 2025: 5 · 2024: 18 · 2023: 11 · 2022: 14 · 2021: 19 · 2020: 22 · 2019: 8 · 2018: 6 · 2017: 2
- FWCI
- 6.88
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- eLife (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- St George's Online Research Archive (St George's University of London) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Hamon Center for Regenerative Science and Medicine (Regenerative medicine training grant)
- Postdoctoral Institutional training grant (NIDA T32-DA007290)
- HHMI International Student Research Fellowship
- National Institutes of Health (DA023701, DA023555, MH107945, R21(NS099950), 1K08CA157727)
- National Institute of Neurological Disorders and Stroke (NINDS K99/R00 (R00NS073735))
- Pollock Foundation
- National Cancer Institute (1R01CA190525)
- Burroughs Wellcome Fund
- CPRIT New Investigator Award (R1209)
- CPRIT Early Translation Grant (DP150077)
- University of Texas Southwestern Medical Center
- NARSAD Young Investigator Grant (NARSAD 24951)
- Cancer Prevention and Research Institute of Texas (RP150596)
- Barts Health NHS Trust
- Queen Mary University London
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- ARID1B, haploinsufficiency, SWI/SNF chromatin remodeling, growth retardation, short stature, Coffin-Siris syndrome, autism spectrum disorder, intellectual disability, social behavior impairment, anxiety-like behavior, vocalizations, neuroanatomical abnormalities, growth hormone, growth hormone-releasing hormone, growth hormone supplementation, neuropsychiatric disorders, muscle weakness
- MeSH terms
- Animals, Behavior, Animal, Mental Disorders, Brain, Developmental Disabilities, Disease Models, Animal, Gene Expression Regulation, Heterozygote, Insulin-Like Growth Factor I, Growth Hormone-Releasing Hormone, Transcription Factors, Protein Serine-Threonine Kinases, Mice, Haploinsufficiency
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
