The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene
Abstract
The 16p13.3 breakpoints of two de novo translocations of chromosome 16, t(1;16) and t(14;16), were shown by initial mapping studies to have physically adjacent breakpoints. The translocations were ascertained in patients with abnormal phenotypes characterized by predominant epilepsy in one patient and mental retardation in the other. Distamycin/DAPI banding showed that the chromosome 1 breakpoint of the t(1;16) was in the pericentric heterochromatin therefore restricting potential gene disruption to the 16p13.3 breakpoint. The breakpoints of the two translocations were localized to a region of 3.5 and 115 kb respectively and were approximately 900 kb apart. The mapping was confirmed by fluorescence in situ hybridization (FISH) of clones that spanned the breakpoints to metaphase spreads derived from the patients. The mapping data showed both translocations disrupted the ataxin-2-binding protein 1 ( A2BP1) gene that encompasses a large genomic region of 1.7 Mb. A2BP1 encodes a protein that is known to interact with the spinocerebellar ataxia type 2 ( SCA2) protein. It is proposed that disruption of the A2BP1 gene is a cause of the abnormal phenotype of the two patients. Ninety-six patients with sporadic epilepsy and 96 female patients with mental retardation were screened by SSCP for potential mutations of A2BP1. No mutations were found, suggesting that disruption of the A2BP1 gene is not a common cause of sporadic epilepsy or mental retardation.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
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?
Together with neuro-developmental defects seen in cell cultures, animal models, and human patients with disrupted Rbfox proteins, this provides a compelling case that Rbfox proteins play critical roles in driving the global dynamic change of the developmental splicing-regulatory program.
“Combined with neuro-developmental defects observed in cell cultures (Kim et al., 2013), animal models (Gehman et al., 2012; Gehman et al., 2011; Kim et al., 2013), and human patients (Bhalla et al., 2004) where Rbfox proteins are disrupted, this presents a compelling case for Rbfox proteins playing critical roles in driving the global dynamic change of the developmentalsplicing-regulatory program.”
From HITS-CLIP and integrative modeling define the Rbfox splicing-regulatory network linked to brain development and autism (2014) · cites this paper as Bhalla et al., 2004
Human mutations in RBFOX1 have been identified in patients with epilepsy.
“Human mutations in RBFOX1 have been identified in patients with epilepsy126–128”
From The neurogenetics of alternative splicing (2016) · cites this paper as [126]
Cites
Warburton, D. (1991) · PubMed · Cited by 677 · see citing works
A novel protein with RNA-binding motifs interacts with ataxin-2
Shibata, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1303 · Cited by 221 · see citing works
Callen, D. F., Baker, E., Hj, E., Je, C., Ja, B., & Sutherland, G. R. (1990) · PubMed · Cited by 87 · see citing works
Self-citationIdentification and expression of a mouse ortholog of A2BP1
Kiehl, T., Shibata, H., Vo, T., Huynh, D., & Pulst, S. (2001) · Mammalian Genome · doi:10.1007/s00335-001-2056-4 · Cited by 55 · see citing works
Callen, D. F., Lane, S. A., Kozman, H. M., Kremmidiotis, G., Whitmore, S. A., Lowenstein, M. G., Doggett, N. A., Kenmochi, N., Page, D. C., Maglott, D. R., et al. (1995) · Genomics · doi:10.1006/geno.1995.9005 · Cited by 45 · see citing works
Self-citationCallen, D. F., Eyre, H. J., McDonnell, S., Schuffenhauer, S., & Bhalla, K. N. (2002) · Chromosoma · doi:10.1007/s00412-002-0203-7 · Cited by 9 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823 · see citing works
Cooper, T. A., Wan, L., & Dreyfuss, G. (2009) · Cell · doi:10.1016/j.cell.2009.02.011 · Cited by 1,152 · see citing works
Functional consequences of developmentally regulated alternative splicing
Kalsotra, A., & Cooper, T. A. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3052 · Cited by 729 · see citing works
Ropers, H., & Hamel, B. C. J. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1501 · Cited by 501 · see citing works
Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges
Lovci, M. T., Ghanem, D., Marr, H., Arnold, J., Gee, S., Parra, M., Liang, T. Y., Stark, T. J., Gehman, L. T., Hoon, S., et al. (2013) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2699 · Cited by 385 · see citing works
Neuronal regulation of alternative pre-mRNA splicing
Li, Q., Lee, J.-A., & Black, D. L. (2007) · Nature Reviews Neuroscience · doi:10.1038/nrn2237 · Cited by 376 · see citing works
Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex
Zhang, X., Chen, M. H., Wu, X., Kodani, A., Fan, J., Doan, R. N., Ozawa, M., Ma, J., Yoshida, N., Reiter, J. F., et al. (2016) · Cell · doi:10.1016/j.cell.2016.07.025 · Cited by 343 · see citing works
The neurogenetics of alternative splicing
Vuong, C. K., Black, D. L., & Zheng, S. (2016) · Nature Reviews Neuroscience · doi:10.1038/nrn.2016.27 · Cited by 340 · see citing works
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain
Gehman, L. T., Stoilov, P., Maguire, J., Damianov, A., Lin, C.-H., Shiue, L., Ares, M., Mody, I., & Black, D. L. (2011) · Nature Genetics · doi:10.1038/ng.841 · Cited by 331 · see citing works
Weyn-Vanhentenryck, S. M., Mele, A., Yan, Q., Sun, S., Farny, N., Zhang, Z., Xue, C., Herre, M., Silver, P. A., Zhang, M. Q., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.02.005 · Cited by 333 · see citing works
“…defects observed in cell cultures (Kim et al., 2013 ), animal models (Gehman et al., 2011, 2012; Kim et al., 2013), and human patients (Bhalla et al., 2004) where Rbfox proteins are disrupted, this presents a compelling case for Rbfox proteins playing critical roles in driving the…”
InfluentialSplicing-factor alterations in cancers
Anczuków, O., & Krainer, A. R. (2016) · RNA · doi:10.1261/rna.057919.116 · Cited by 297 · see citing works
Defining the regulatory network of the tissue-specific splicing factors Fox-1 and Fox-2
Zhang, C., Zhang, Z., Castle, J., Sun, S., Johnson, J., Krainer, A. R., & Zhang, M. Q. (2008) · Genes & Development · doi:10.1101/gad.1703108 · Cited by 300 · see citing works
Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions
Nussbacher, J. K., Tabet, R., Yeo, G. W.-M., & Lagier‐Tourenne, C. (2019) · Neuron · doi:10.1016/j.neuron.2019.03.014 · Cited by 264 · see citing works
Underwood, J. G., Boutz, P. L., Dougherty, J. D., Stoilov, P., & Black, D. L. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.22.10005-10016.2005 · Cited by 272 · see citing works
Splicing Regulation in Neurologic Disease
Licatalosi, D. D., & Darnell, R. B. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.017 · Cited by 250 · see citing works
Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes
Lee, J.-A., Damianov, A., Lin, C.-H., Fontes, M., Parikshak, N. N., Anderson, E. S., Geschwind, D. H., Black, D. L., & Martin, K. C. (2016) · Neuron · doi:10.1016/j.neuron.2015.11.025 · Cited by 232 · see citing works
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
Fogel, B. L., Wexler, E., Wahnich, A., Friedrich, T., Vijayendran, C., Gao, F., Parikshak, N., Konopka, G., & Geschwind, D. H. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds240 · Cited by 216 · see citing works
The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function
Gehman, L. T., Meera, P., Stoilov, P., Shiue, L., O'Brien, J. E., Meisler, M. H., Ares, M., Otis, T. S., & Black, D. L. (2012) · Genes & Development · doi:10.1101/gad.182477.111 · Cited by 213 · see citing works
Rbfox Proteins Regulate Splicing as Part of a Large Multiprotein Complex LASR
Damianov, A., Yi, Y., Lin, C.-H., Lee, J.-A., Tran, D., Vashisht, A. A., Bahrami‐Samani, E., Xing, Y., Martin, K. C., Wohlschlegel, J. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.03.040 · Cited by 204 · see citing works
Chronic cocaine-regulated epigenomic changes in mouse nucleus accumbens
Feng, J., Wilkinson, M., Liu, X., Purushothaman, I., Ferguson, D., Vialou, V., Maze, I., Shao, N., Kennedy, P., Koo, J., et al. (2014) · Genome Biology · doi:10.1186/gb-2014-15-4-r65 · Cited by 198 · see citing works
Martin, C. L., Duvall, J. A., Ilkin, Y., Simon, J. S., Arreaza, M. G., Wilkes, K., Alvarez‐Retuerto, A., Whichello, A., Powell, C. M., Rao, K., et al. (2007) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30530 · Cited by 198 · see citing works
Mikhail, F. M., Lose, E. J., Robin, N. H., Descartes, M. D., Rutledge, K. D., Rutledge, S. L., Korf, B. R., & Carroll, A. J. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34177 · Cited by 168 · see citing works
Baldwin, E. L., Lee, J.-Y., Blake, D. M., Bunke, B. P., Alexander, C. R., Kogan, A. L., Ledbetter, D. H., & Martin, C. L. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e318177015c · Cited by 159 · see citing works
Lee, J.-A., Tang, Z., & Black, D. L. (2009) · Genes & Development · doi:10.1101/gad.1837009 · Cited by 158 · see citing works
Gerstberger, S. C., Hafner, M., Ascano, M., & Tuschl, T. (2014) · Advances in experimental medicine and biology · doi:10.1007/978-1-4939-1221-6_1 · Cited by 145 · see citing works
Vounou, M., Janoušová, E., Wolz, R., Stein, J. L., Thompson, P. M., Rueckert, D., & Montana, G. (2011) · NeuroImage · doi:10.1016/j.neuroimage.2011.12.029 · Cited by 147 · see citing works
Generation and characterization of Sca2 (ataxin-2) knockout mice
Kiehl, T.-R., Nechiporuk, A. V., Figueroa, K. P., Keating, M. T., Huynh, D. P., & Pulst, S.-M. (2005) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.10.186 · Cited by 141 · see citing works
Structural and functional analysis of ataxin‐2 and ataxin‐3
Albrecht, M., Golatta, M., Wüllner, U., & Lengauer, T. (2004) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.2004.04245.x · Cited by 140 · see citing works
Developmental regulation of RNA processing by Rbfox proteins
Conboy, J. G. (2016) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1398 · Cited by 134 · see citing works
Anney, R., Lasky-Su, J., O'Dushlaine, C., Kenny, E., Neale, B., Mulligan, A., Franke, B., Zhou, K., Chen, W., Christiansen, H., et al. (2008) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30871 · Cited by 135 · see citing works
RNA-binding proteins in neurological development and disease
Prashad, S., & Gopal, P. P. (2020) · RNA Biology · doi:10.1080/15476286.2020.1809186 · Cited by 119 · see citing works
Rbfox Splicing Factors Promote Neuronal Maturation and Axon Initial Segment Assembly
Jacko, M., Weyn‐Vanhentenryck, S. M., Smerdon, J. W., Yan, R., Feng, H., Williams, D. J., Pai, J. A., Xu, K., Wichterle, H., & Zhang, C. (2018) · Neuron · doi:10.1016/j.neuron.2018.01.020 · Cited by 126 · see citing works
Autoregulation of Fox protein expression to produce dominant negative splicing factors
Damianov, A., & Black, D. L. (2010) · RNA · doi:10.1261/rna.1838210 · Cited by 120 · see citing works
Alternative splicing of mRNA in the molecular pathology of neurodegenerative diseases
Mills, J. D., & Janitz, M. (2011) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2011.10.030 · Cited by 114 · see citing works
RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy
Lal, D., Reinthaler, E. M., Altmüller, J., Toliat, M. R., Thiele, H., Nürnberg, P., Lerche, H., Hahn, A., Møller, R. S., Muhle, H., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0073323 · Cited by 113 · see citing works
Rbfox1 Regulates Synaptic Transmission through the Inhibitory Neuron-Specific vSNARE Vamp1
Vuong, C. K., Wei, W., Lee, J.-A., Lin, C.-H., Damianov, A., de la Torre-Ubieta, L., Halabi, R., Otis, K. O., Martin, K. C., O’Dell, T. J., et al. (2018) · Neuron · doi:10.1016/j.neuron.2018.03.008 · Cited by 102 · see citing works
Rare autosomal copy number variations in early-onset familial Alzheimer’s disease
Hooli, B. V., Kovacs-Vajna, Z. M., Mullin, K., Blumenthal, M. A., Mattheisen, M., Zhang, C., Lange, C., Mohapatra, G., Bertram, L., & Tanzi, R. E. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.77 · Cited by 100 · see citing works
Rbfox1 Mediates Cell-type-Specific Splicing in Cortical Interneurons
Wamsley, B., Jaglin, X. H., Favuzzi, E., Quattrocolo, G., Nigro, M. J., Yusuf, N., Khodadadi‐Jamayran, A., Rudy, B., & Fishell, G. (2018) · Neuron · doi:10.1016/j.neuron.2018.09.026 · Cited by 100 · see citing works
Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy
Caillet‐Boudin, M., Fernández-Gómez, F.-J., Tran, H., Dhaenens, C., Buée, L., & Sergeant, N. (2014) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2013.00057 · Cited by 99 · see citing works
Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept
Hamshere, M. L., Green, E., Jones, I. R., Jones, L. A., Moskvina, V., Kirov, G., Grozeva, D., Nikolov, I., Vukcevic, D., Caesar, S., et al. (2009) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.108.061424 · Cited by 96 · see citing works
Lin, L., Göke, J., Cukuroglu, E., Dranias, M. R., VanDongen, A. M. J., & Stanton, L. W. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.05.022 · Cited by 92 · see citing works
Orchestration of Neurodevelopmental Programs by RBFOX1
Bill, B. R., Lowe, J. K., DyBuncio, C. T., & Fogel, B. L. (2013) · International Review of Neurobiology · doi:10.1016/b978-0-12-418700-9.00008-3 · Cited by 94 · see citing works
Epigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action
Zahir, F., & Brown, C. J. (2011) · Pediatric Research · doi:10.1203/pdr.0b013e318213565e · Cited by 93 · see citing works
Repression of Pumilio Protein Expression by Rbfox1 Promotes Germ Cell Differentiation
Carreira-Rosario, A., Bhargava, V., Hillebrand, J., Kollipara, R. K., Ramaswami, M., & Buszczak, M. (2016) · Developmental Cell · doi:10.1016/j.devcel.2016.02.010 · Cited by 89 · see citing works
Genetic and epigenetic defects in mental retardation
Kramer, J. M., & van Bokhoven, H. (2008) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2008.08.009 · Cited by 87 · see citing works
Hamada, N., Ito, H., Nishijo, T., Iwamoto, I., Morishita, R., Tabata, H., Momiyama, T., & Nagata, K.-I. (2016) · Scientific Reports · doi:10.1038/srep30805 · Cited by 86 · see citing works
RNA-binding proteins in neurological diseases
Zhou, H.-L., Mangelsdorf, M., Liu, J., Zhu, L., & Wu, J. Y. (2014) · Science China Life Sciences · doi:10.1007/s11427-014-4647-9 · Cited by 78 · see citing works
Noor, A., Lionel, A. C., Cohen‐Woods, S., Moghimi, N., Rucker, J., Fennell, A., Thiruvahindrapuram, B., Kaufman, L., Degagne, B., Wei, J., et al. (2014) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32232 · Cited by 81 · see citing works
Homeodomain Protein Otp and Activity-Dependent Splicing Modulate Neuronal Adaptation to Stress
Amir-Zilberstein, L., Blechman, J., Sztainberg, Y., Norton, W., Reuveny, A., Borodovsky, N., Tahor, M., Bonkowsky, J. L., Bally‐Cuif, L., Chen, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2011.11.019 · Cited by 75 · see citing works
Navakkode, S., Zhai, J., Wong, Y. P., Li, G., & Soong, T. W. (2022) · Translational Psychiatry · doi:10.1038/s41398-021-01683-2 · Cited by 74 · see citing works
Auburger, G. W. J. (2011) · Handbook of clinical neurology · doi:10.1016/b978-0-444-51892-7.00026-7 · Cited by 74 · see citing works
Sellier, C., Cerro-Herreros, E., Blatter, M., Freyermuth, F., Gaucherot, A., Ruffenach, F., Sarkar, P. S., Puymirat, J., Udd, B., Day, J., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04370-x · Cited by 74 · see citing works
Calarco, J. A., Zhen, M., & Blencowe, B. J. (2011) · RNA · doi:10.1261/rna.2603911 · Cited by 72 · see citing works
Neuron-enriched RNA-binding Proteins Regulate Pancreatic Beta Cell Function and Survival
Juan‐Mateu, J., Rech, T. H., Villate, O., Lizárraga-Mollinedo, E., Wendt, A., Turatsinze, J., Brondani, L. D. A., Nardelli, T. R., Nogueira, T. C., Esguerra, J. L. S., et al. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.748335 · Cited by 70 · see citing works
Synaptic Signaling and Aberrant RNA Splicing in Autism Spectrum Disorders
Smith, R. M., & Sadée, W. (2011) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2011.00001 · Cited by 70 · see citing works
Balanced translocations in mental retardation
Vandeweyer, G., & Kooy, R. F. (2009) · Human Genetics · doi:10.1007/s00439-009-0661-6 · Cited by 68 · see citing works
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
Lal, D., Trucks, H., Møller, R. S., Hjalgrim, H., Koeleman, B. P. C., de Kovel, C. G. F., Visscher, F., Weber, Y. G., Lerche, H., Becker, F., et al. (2013) · Epilepsia · doi:10.1111/epi.12084 · Cited by 67 · see citing works
New Genes for Focal Epilepsies with Speech and Language Disorders
Turner, S. J., Morgan, A. T., Perez, E. R., & Scheffer, I. E. (2015) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-015-0554-0 · Cited by 66 · see citing works
Pedrotti, S., Giudice, J., Dagnino-Acosta, A., Knoblauch, M. A., Singh, R. K., Hanna, A. D., Mo, Q., Hicks, J. M., Hamilton, S. L., & Cooper, T. A. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv003 · Cited by 64 · see citing works
Stambolian, D. E., Wojciechowski, R., Oexle, K., Pirastu, M., Li, X., Raffel, L. J., Cotch, M. F., Chew, E. Y., Klein, B. E. K., Klein, R., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt116 · Cited by 64 · see citing works
Hamada, N., Ito, H., Iwamoto, I., Morishita, R., Tabata, H., & Nagata, K.-I. (2015) · Molecular Autism · doi:10.1186/s13229-015-0049-5 · Cited by 59 · see citing works
Dissociated Fear and Spatial Learning in Mice with Deficiency of Ataxin-2
Huynh, D. P., Maalouf, M., Silva, A. J., Schweizer, F. E., & Pulst, S. M. (2009) · PLoS ONE · doi:10.1371/journal.pone.0006235 · Cited by 57 · see citing works
Concentration-dependent splicing is enabled by Rbfox motifs of intermediate affinity
Begg, B. E., Jens, M., Wang, P. Y., Minor, C. M., & Burge, C. B. (2020) · Nature Structural & Molecular Biology · doi:10.1038/s41594-020-0475-8 · Cited by 54 · see citing works
Kucherenko, M. M., & Shcherbata, H. R. (2018) · Journal of Cell Science · doi:10.1242/jcs.202002 · Cited by 55 · see citing works
Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A
O'Brien, J. E., Drews, V. L., Jones, J. M., Dugas, J. C., Barres, B. A., & Meisler, M. H. (2012) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2011.10.005 · Cited by 49 · see citing works
Massive expansion of SCA2 with autonomic dysfunction, retinitis pigmentosa, and infantile spasms
Paciorkowski, A. R., Shafrir, Y., Hrivnak, J., Patterson, M. C., Tennison, M. B., Clark, H. B., & Gomez, C. M. (2011) · Neurology · doi:10.1212/wnl.0b013e31822e5627 · Cited by 47 · see citing works
The contribution of alternative splicing to genetic risk for psychiatric disorders
Reble, E., Dineen, A., & Barr, C. L. (2017) · Genes Brain & Behavior · doi:10.1111/gbb.12430 · Cited by 44 · see citing works
Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders
Brand, H., Pillalamarri, V., Collins, R. L., Eggert, S., O'Dushlaine, C. T., Braaten, E. B., Stone, M. R., Chambert, K., Doty, N. D., Hanscom, C., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.09.005 · Cited by 44 · see citing works
Yu, S., Bittel, D. C., Kibiryeva, N., Zwick, D. L., & Cooley, L. D. (2009) · American Journal of Clinical Pathology · doi:10.1309/ajcp1boutwf6erys · Cited by 43 · see citing works
MiR-980 Is a Memory Suppressor MicroRNA that Regulates the Autism-Susceptibility Gene A2bp1
Guven-Ozkan, T., Busto, G. U., Schutte, S. S., Cervantes-Sandoval, I., O’Dowd, D. K., & Davis, R. L. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.01.040 · Cited by 43 · see citing works
Mattioli, F., Hayot, G., Drouot, N., Isidor, B., Courraud, J., Hinckelmann, M.-V., Mau‐Them, F. T., Sellier, C., Goldman, A. M., Telegrafi, A. B., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.02.013 · Cited by 41 · see citing works
Pistoni, M., Shiue, L., Cline, M., Bortolanza, S., Neguembor, M. V., Xynos, A., Ares, M., & Gabellini, D. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003186 · Cited by 38 · see citing works
Zhao, W.-W. (2013) · Molecular Cytogenetics · doi:10.1186/1755-8166-6-26 · Cited by 41 · see citing works
Genetic variants in RBFOX3 are associated with sleep latency
Amin, N., Allebrandt, K. V., van der Spek, A., Müller‐Myhsok, B., Hek, K., Teder‐Laving, M., Hayward, C., Esko, T., van Mill, J. G., Mbarek, H., et al. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2016.31 · Cited by 40 · see citing works
Progress in unraveling the genetic etiology of rolandic epilepsy
Xiong, W., & Zhou, D. (2017) · Seizure · doi:10.1016/j.seizure.2017.02.012 · Cited by 39 · see citing works
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis
Davis, L. K., Maltman, N., Mosconi, M. W., Macmillan, C., Schmitt, L., Moore, K. M., Francis, S. M., Jacob, S., Sweeney, J. A., & Cook, E. H. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35396 · Cited by 38 · see citing works
Benign epilepsy with centrotemporal spikes – Current concepts of diagnosis and treatment
Dryżałowski, P., Jóźwiak, S., Franckiewicz, M., & Strzelecka, J. (2018) · Neurologia i Neurochirurgia Polska · doi:10.1016/j.pjnns.2018.08.010 · Cited by 38 · see citing works
Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options
Bergsma, A. J., van der Wal, E., Broeders, M., van der Ploeg, A. T., & Pijnappel, W. W. M. P. (2017) · International review of cytology · doi:10.1016/bs.ircmb.2017.07.008 · Cited by 36 · see citing works
Melhem, N., Middleton, F. A., McFadden, K. A., Klei, L., Faraone, S. V., Vinogradov, S., Tiobech, J., Yano, V. M., Kuartei, S. J., Roeder, K., et al. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.08.009 · Cited by 35 · see citing works
Razanau, A., & Xie, J. (2013) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-013-1390-5 · Cited by 32 · see citing works
Rett syndrome linked to defects in forming the MeCP2/Rbfox/LASR complex in mouse models
Jiang, Y. Y., Fu, X., Zhang, Y., Wang, S.-F., Zhu, H. M., Wang, W.-K., Zhang, L., Wu, P., Wong, C. C. L., Li, J., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-26084-3 · Cited by 29 · see citing works
RNA splicing regulated by RBFOX1 is essential for cardiac function in zebrafish
Frese, K., Meder, B., Keller, A., Just, S., Haas, J., Vogel, B., Fischer, S., Backes, C., Matzas, M., Köhler, D., et al. (2015) · Journal of Cell Science · doi:10.1242/jcs.166850 · Cited by 27 · see citing works
RNA and neuronal function: the importance of post-transcriptional regulation
Bhat, V. D., Jayaraj, J., & Babu, K. (2022) · Oxford Open Neuroscience · doi:10.1093/oons/kvac011 · Cited by 26 · see citing works
Conserved functions of RNA-binding proteins in muscle
Nikonova, E. V., Kao, S.-Y., Ravichandran, K., Wittner, A., & Spletter, M. L. (2019) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2019.02.008 · Cited by 23 · see citing works
Protein kinase WNK3 regulates the neuronal splicing factor Fox-1
Lee, A.-Y., Chen, W., Stippec, S., Self, J., Yang, F., Ding, X., Chen, S., Juang, Y.-C. A., & Cobb, M. H. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1215406109 · Cited by 25 · see citing works
Chaves, T. F., Baretto, N., de Oliveira, L. F., Ocampos, M., Barbato, I. T., Anselmi, M., de Luca, G. R., Filho, J. H. B., Pinto, L. L. D. C., Bernardi, P., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-54347-z · Cited by 24 · see citing works
Advances in the study of RNA-binding proteins in diabetic complications
Chen, X., Wu, J., Li, Z., Han, J., Xia, P., Shen, Y., Ma, J., Liu, X., Zhang, J., & Yu, P. (2022) · Molecular Metabolism · doi:10.1016/j.molmet.2022.101515 · Cited by 25 · see citing works
Genome-wide association study identifies RBFOX1 locus influencing brain glucose metabolism
Initiative, A. D. N., Kong, L., Miao, D., Tan, L., Liu, S., Li, J., Cao, X., & Tan, L. (2018) · Annals of Translational Medicine · doi:10.21037/atm.2018.07.05 · Cited by 23 · see citing works
Assessment and Treatment in Autism Spectrum Disorders: A Focus on Genetics and Psychiatry
Butler, M. G., Youngs, E. L., Roberts, J., & Hellings, J. A. (2012) · Autism Research and Treatment · doi:10.1155/2012/242537 · Cited by 22 · see citing works
RNA-Binding Proteins in Heart Development
Giudice, J., & Cooper, T. A. (2014) · Advances in experimental medicine and biology · doi:10.1007/978-1-4939-1221-6_11 · Cited by 22 · see citing works
Correction: RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy
Lal, D., Reinthaler, E. M., Altmüller, J., Toliat, M. R., Thiele, H., rnberg, P. N. ⁄., Lerche, H., Hahn, A., Møller, R. S., Muhle, H., et al. (2013) · PLoS ONE · doi:10.1371/annotation/f6aed47b-9135-45f5-bfdd-f4ceb33c8561 · Cited by 22 · see citing works
Hammock, E. A. D., & Levitt, P. (2011) · Developmental Neuroscience · doi:10.1159/000323732 · Cited by 21 · see citing works
Downregulation of splicing regulator RBFOX1 compromises visual depth perception
Gu, L., Bok, D., Yu, F., Caprioli, J., & Piri, N. (2018) · PLoS ONE · doi:10.1371/journal.pone.0200417 · Cited by 21 · see citing works
Biochemical and morphological characterization of A2BP1 in neuronal tissue
Hamada, N., Ito, H., Iwamoto, I., Mizuno, M., Morishita, R., Inaguma, Y., Kawamoto, S., Tabata, H., & Nagata, K. (2013) · Journal of Neuroscience Research · doi:10.1002/jnr.23266 · Cited by 17 · see citing works
Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion
Gallant, N. M., Baldwin, E., Salamon, N., Dipple, K. M., & Quintero‐Rivera, F. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34286 · Cited by 17 · see citing works
Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees
Fanciulli, M., Pasini, E., Malacrida, S., Striano, P., Striano, S., Michelucci, R., Ottman, R., & Nobile, C. (2014) · Epilepsia · doi:10.1111/epi.12767 · Cited by 15 · see citing works
Copy-Number Variations Associated with Autism Spectrum Disorder
Kakinuma, H., & Sato, H. (2008) · Pharmacogenomics · doi:10.2217/14622416.9.8.1143 · Cited by 16 · see citing works
Early-Onset Progressive Myoclonic Epilepsy With Dystonia Mapping to 16pter-p13.3
Duru, N., İşerı̇, S. A. U., Selç, N., & Tolun, A. (2010) · Journal of Neurogenetics · doi:10.3109/01677063.2010.514368 · Cited by 16 · see citing works
The effect of Rbfox2 modulation on retinal transcriptome and visual function
Gu, L., Kawaguchi, R., Caprioli, J., & Piri, N. (2020) · Scientific Reports · doi:10.1038/s41598-020-76879-5 · Cited by 14 · see citing works
- Authors
- Bhalla, K., Phillips, H. A., Crawford, J., McKenzie, O. L. D., Mulley, J. C., Eyre, H., Gardner, A. E., Kremmidiotis, G., & Callen, D. F.
- Affiliations
- Women's and Children's Hospital (AU)
- South Australia Pathology (AU)
- Corresponding author
- Callen, David F.
- Venue
- Journal of Human Genetics
- Published
- 2004-05-18
- Volume
- 49
- Issue
- 6
- Pages
- 308-311
- ISSN
- 1434-5161 (ISSN-L)
- 1435-232X
- OpenAlex
- W2086863891
- Cited by
- 146
- References
- 6
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 5 · 2023: 4 · 2022: 6 · 2021: 3 · 2020: 10 · 2019: 6 · 2018: 10 · 2017: 8 · 2016: 11 · 2015: 6 · 2014: 12 · 2013: 12 · 2012: 6
- FWCI
- 1.79
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- gene disruption, epilepsy, intellectual disability, spinocerebellar ataxia type 2, pericentromeric heterochromatin, breakpoint mapping, fluorescence in situ hybridization
- MeSH terms
- Ataxins, RNA Splicing Factors, Adolescent, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 16, Epilepsy, Exons, Female, Humans, Introns, Male, Intellectual Disability, Models, Genetic, Mutation, Nerve Tissue Proteins, Phenotype, Proteins, Translocation, Genetic, RNA-Binding Proteins, In Situ Hybridization, Fluorescence, Polymorphism, Single-Stranded Conformational, Physical Chromosome Mapping
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
