Allen, K. M., Gleeson, J. G., Bagrodia, S., Partington, M. W., MacMillan, J. C., Cerione, R. A., Mulley, J. C., & Walsh, C. A. (1998). PAK3 mutation in nonsyndromic X-linked mental retardation. Nature Genetics, 20, 25–30.
Article
PubMed
CAS
Google Scholar
Arendt, T., Gärtner, U., Seeger, G., Barmashenko, G., Palm, K., Mittmann, T., Yan, L., Hümmeke, M., Behrbohm, J., Brückner, M. K., Holzer, M., Wahle, P., & Heumann, R. (2004). Neuronal activation of Ras regulates synaptic connectivity. European Journal of Neuroscience, 19, 2953–2966.
Article
PubMed
Google Scholar
Bahi, N., Friocourt, G., Carrie, A., Graham, M. E., Weiss, J. L., Chafey, P., Fauchereau, F., Burgoyne, R. D., & Chelly, J. (2003). IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis. Human Molecular Genetics, 12, 1415–1425.
Article
PubMed
CAS
Google Scholar
Bernstein, B. W., & Bamburg, J. R. (2010). ADF/cofilin: A functional node in cell biology. Trends in Cell Biology, 20, 187–195.
Article
PubMed
CAS
Google Scholar
Bienvenu, T., des Portes, V., McDonell, N., Carrié, A., Zemni, R., Couvert, P., Ropers, H. H., Moraine, C., van Bokhoven, H., Fryns, J. P., Allen, K., Walsh, C. A., Boué, J., Kahn, A., Chelly, J., & Beldjord, C. (2000). Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. American Journal of Medical Genetics, 93, 294–298.
Article
PubMed
CAS
Google Scholar
Blanpied, T. A., & Ehlers, M. D. (2004). Microanatomy of dendritic spines: Emerging principles of synaptic pathology in psychiatric and neurological disease. Biological Psychiatry, 55, 1121–1127.
Article
PubMed
Google Scholar
Blundell, J., Blaiss, C. A., Etherton, M. R., Espinosa, F., Tabuchi, K., Walz, C., Bolliger, M. F., Südhof, T. C., & Powell, C. M. (2010). Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior. Journal of Neuroscience, 30, 2115–2129.
Article
PubMed
CAS
Google Scholar
Boda, B., Alberi, S., Nikonenko, I., Node-Langlois, R., Jourdain, P., Moosmayer, M., Parisi-Jourdain, L., & Muller, D. (2004). The mental retardation protein PAK3 contributes to synapse formation and plasticity in hippocampus. Journal of Neuroscience, 24, 10816–10825.
Article
PubMed
CAS
Google Scholar
Boda, B., Dubos, A., & Muller, D. (2010). Signaling mechanisms regulating synapse formation and function in mental retardation. Current Opinion in Neurobiology, 20, 519–527.
Article
PubMed
CAS
Google Scholar
Boda, B., Jourdain, L., & Muller, D. (2008). Distinct, but compensatory roles of PAK1 and PAK3 in spine morphogenesis. Hippocampus, 18, 857–861.
Article
PubMed
CAS
Google Scholar
Bokoch, G. M. (2003). Biology of the p21-activated kinases. Annual Review of Biochemistry, 72, 743–781.
Article
PubMed
CAS
Google Scholar
Boulet, S. L., Schieve, L. A., & Boyle, C. A. (2009). Birth weight and health and developmental outcomes in US children, 1997–2005. Matern Child Health Journal. 2011. Oct:15(7):836–44. doi:10.1007/s10995-009-0538-2.
Bradley, E. A., Thompson, A., & Bryson, S. E. (2002). Mental retardation in teenagers: Prevalence data from the Niagara region, Ontario. Canadian Journal of Psychiatry, 47, 652–659.
Google Scholar
Carrie, A., et al. (1999). A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nature Genetics, 23, 25–31.
PubMed
CAS
Google Scholar
Chadman, K. K., Gong, S., Scattoni, M. L., Boltuck, S. E., Gandhy, S. U., Heintz, N., & Crawley, J. N. (2008). Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice. Autism Research, 1, 147–158.
Article
PubMed
Google Scholar
Chocholska, S., Rossier, E., Barbi, G., & Kehrer-Sawatzki, H. (2006). Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. American Journal of Medical Genetics A, 140, 604–610.
Article
CAS
Google Scholar
Comoletti, D., De Jaco, A., Jennings, L. L., Flynn, R. E., Gaietta, G., Tsigelny, I., Ellisman, M. H., & Taylor, P. (2004). The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing. Journal of Neuroscience, 24, 4889–4893.
Article
PubMed
CAS
Google Scholar
D’Hulst, C., & Kooy, R. F. (2009). Fragile X syndrome: From molecular genetics to therapy. Journal of Medical Genetics, 46, 577–584.
Article
PubMed
CAS
Google Scholar
Dalva, M. B., McClelland, A. C., & Kayser, M. S. (2007). Cell adhesion molecules: Signalling functions at the synapse. Nature Reviews Neuroscience, 8, 206–220.
Article
PubMed
CAS
Google Scholar
De Jaco, A., Lin, M. Z., Dubi, N., Comoletti, D., Miller, M. T., Camp, S., Ellisman, M., Butko, M. T., Tsien, R. Y., & Taylor, P. (2010). Neuroligin trafficking deficiencies arising from mutations in the alpha/beta-hydrolase fold protein family. The Journal of Biological Chemistry, 285, 28674–28682.
Article
PubMed
CAS
Google Scholar
Dean, C., & Dresbach, T. (2006). Neuroligins and neurexins: Linking cell adhesion, synapse formation and cognitive function. Trends in Neurosciences, 29, 21–29.
Article
PubMed
CAS
Google Scholar
Doussau, F., Gasman, S., Humeau, Y., Vitiello, F., Popoff, M., Boquet, P., Bader, M. F., & Poulain, B. (2000). A Rho-related GTPase is involved in Ca(2+)-dependent neurotransmitter exocytosis. The Journal of Biological Chemistry, 275, 7764–7770.
Article
PubMed
CAS
Google Scholar
Drews, C. D., Yeargin-Allsopp, M., Decouflé, P., & Murphy, C. C. (1995). Variation in the influence of selected sociodemographic risk factors for mental retardation. American Journal of Public Health, 85, 329–334.
Article
PubMed
CAS
Google Scholar
Ehninger, D., Li, W., Fox, K., Stryker, M. P., & Silva, A. J. (2008). Reversing neurodevelopmental disorders in adults. Neuron, 60, 950–960.
Article
PubMed
CAS
Google Scholar
Endris, V., Wogatzky, B., Leimer, U., Bartsch, D., Zatyka, M., Latif, F., Maher, E. R., Tariverdian, G., Kirsch, S., Karch, D., & Rappold, G. A. (2002). The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation. Proceedings of the National Academy of Sciences of the United States of America, 99, 11754–11759.
Article
PubMed
CAS
Google Scholar
Eng, C. (2003). PTEN: One gene, many syndromes. Human Mutation, 22, 183–198.
Article
PubMed
CAS
Google Scholar
Feng, J., Schroer, R., Yan, J., Song, W., Yang, C., Bockholt, A., Cook, E. H., Skinner, C., Schwartz, C. E., & Sommer, S. S. (2006). High frequency of neurexin 1beta signal peptide structural variants in patients with autism. Neuroscience Letters, 409, 10–13.
Article
PubMed
CAS
Google Scholar
Fiala, J. C., Spacek, J., & Harris, K. M. (2002). Dendritic spine pathology: Cause or consequence of neurological disorders? Brain Research: Brain Research Reviews, 39, 29–54.
Article
PubMed
Google Scholar
Fu, Z., Lee, S. H., Simonetta, A., Hansen, J., Sheng, M., & Pak, D. T. (2007). Differential roles of Rap1 and Rap2 small GTPases in neurite retraction and synapse elimination in hippocampal spiny neurons. Journal of Neurochemistry, 100, 118–131.
Article
PubMed
CAS
Google Scholar
Gäddlin, P. O., Finnström, O., Sydsjö, G., & Leijon, I. (2009). Most very low birth weight subjects do well as adults. Acta Paediatrica, 98, 1513–1520.
Article
PubMed
Google Scholar
Gambino, F., Pavlowsky, A., Béglé, A., Dupont, J. L., Bahi, N., Courjaret, R., Gardette, R., Hadjkacem, H., Skala, H., Poulain, B., Chelly, J., Vitale, N., & Humeau, Y. (2007). IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation. Proceedings of the National Academy of Sciences of the United States of America, 104, 9063–9068.
Article
PubMed
CAS
Google Scholar
Govek, E. E., Newey, S. E., Akerman, C. J., Cross, J. R., Van der Veken, L., & Van Aelst, L. (2004). The X-linked mental retardation protein oligophrenin-1 is required for dendritic spine morphogenesis. Nature Neuroscience, 7, 364–372.
Article
PubMed
CAS
Google Scholar
Govek, E. E., Newey, S. E., & Van Aelst, L. (2005). The role of the Rho GTPases in neuronal development. Genes and Development, 19, 1–49.
Article
PubMed
CAS
Google Scholar
Gu, Y., & Stornetta, R. L. (2007). Synaptic plasticity, AMPA-R trafficking, and Ras-MAPK signaling. Acta Pharmacologica Sinica, 28, 928–936.
Article
PubMed
CAS
Google Scholar
Hamdan, F. F., et al. (2009). Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. The New England Journal of Medicine, 360, 599–605.
Article
PubMed
CAS
Google Scholar
Hishimoto, A., Liu, Q. R., Drgon, T., Pletnikova, O., Walther, D., Zhu, X. G., Troncoso, J. C., & Uhl, G. R. (2007). Neurexin 3 polymorphisms are associated with alcohol dependence and altered expression of specific isoforms. Human Molecular Genetics, 16, 2880–2891.
Article
PubMed
CAS
Google Scholar
Hu, H., Qin, Y., Bochorishvili, G., Zhu, Y., van Aelst, L., & Zhu, J. J. (2008). Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome. Journal of Neuroscience, 28, 7847–7862.
Article
PubMed
CAS
Google Scholar
Humeau, Y., Gambino, F., Chelly, J., & Vitale, N. (2009). X-linked mental retardation: Focus on synaptic function and plasticity. Journal of Neurochemistry, 109, 1–14.
Article
PubMed
CAS
Google Scholar
Iida, J., Ishizaki, H., Okamoto-Tanaka, M., Kawata, A., Sumita, K., Ohgake, S., Sato, Y., Yorifuji, H., Nukina, N., Ohashi, K., Mizuno, K., Tsutsumi, T., Mizoguchi, A., Miyoshi, J., Takai, Y., & Hata, Y. (2007). Synaptic scaffolding molecule alpha is a scaffold to mediate N-methyl-D-aspartate receptor-dependent RhoA activation in dendrites. Molecular and Cellular Biology, 27, 4388–4405.
Article
PubMed
CAS
Google Scholar
Jaffe, A. B., & Hall, A. (2005). Rho GTPases: Biochemistry and biology. Annual Review of Cell and Developmental Biology, 21, 247–269.
Article
PubMed
CAS
Google Scholar
Jaffer, Z. M., & Chernoff, J. (2002). p21-activated kinases: Three more join the Pak. The International Journal of Biochemistry and Cell Biology, 34, 713–717.
Article
CAS
Google Scholar
Jamain, S., Quach, H., Betancur, C., Rastam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C., & Bourgeron, T. (2003). Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genetics, 34, 27–29.
Article
PubMed
CAS
Google Scholar
Jamain, S., Radyushkin, K., Hammerschmidt, K., Granon, S., Boretius, S., Varoqueaux, F., Ramanantsoa, N., Gallego, J., Ronnenberg, A., Winter, D., Frahm, J., Fischer, J., Bourgeron, T., Ehrenreich, H., & Brose, N. (2008). Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proceedings of the National Academy of Sciences of the United States of America, 105, 1710–1715.
Article
PubMed
CAS
Google Scholar
Kandel, E. R. (2001). The molecular biology of memory storage: A dialogue between genes and synapses. Science, 294, 1030–1038.
Article
PubMed
CAS
Google Scholar
Kaufman, L., Ayub, M., & Vincent, J. B. (2010). The genetic basis of non-syndromic intellectual disability: A review. Journal of Neurodevelopmental Disorders, 2, 182–209.
Article
PubMed
Google Scholar
Kaufmann, W. E., & Moser, H. W. (2000). Dendritic anomalies in disorders associated with mental retardation. Cerebral Cortex, 10, 981–991.
Article
PubMed
CAS
Google Scholar
Kessels, H. W., & Malinow, R. (2009). Synaptic AMPA receptor plasticity and behavior. Neuron, 61, 340–350.
Article
PubMed
CAS
Google Scholar
Khelfaoui, M., Denis, C., van Galen, E., de Bock, F., Schmitt, A., Houbron, C., Morice, E., Giros, B., Ramakers, G., Fagni, L., Chelly, J., Nosten-Bertrand, M., & Billuart, P. (2007). Loss of X-linked mental retardation gene oligophrenin1 in mice impairs spatial memory and leads to ventricular enlargement and dendritic spine immaturity. Journal of Neuroscience, 27, 9439–9450.
Article
PubMed
CAS
Google Scholar
Khelfaoui, M., Pavlowsky, A., Powell, A. D., Valnegri, P., Cheong, K. W., Blandin, Y., Passafaro, M., Jefferys, J. G., Chelly, J., & Billuart, P. (2009). Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation. Human Molecular Genetics, 18, 2575–2583.
Article
PubMed
CAS
Google Scholar
Kim, M. J., Dunah, A. W., Wang, Y. T., & Sheng, M. (2005). Differential roles of NR2A- and NR2B-containing NMDA receptors in Ras-ERK signaling and AMPA receptor trafficking. Neuron, 46, 745–760.
Article
PubMed
CAS
Google Scholar
Kim, J. H., Liao, D., Lau, L. F., & Huganir, R. L. (1998). SynGAP: A synaptic RasGAP that associates with the PSD-95/SAP90 protein family. Neuron, 20, 683–691.
Article
PubMed
CAS
Google Scholar
Kim, H. G., et al. (2008). Disruption of neurexin 1 associated with autism spectrum disorder. American Journal of Human Genetics, 82, 199–207.
Article
PubMed
CAS
Google Scholar
Kirov, G., Gumus, D., Chen, W., Norton, N., Georgieva, L., Sari, M., O’Donovan, M. C., Erdogan, F., Owen, M. J., Ropers, H. H., & Ullmann, R. (2008). Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Human Molecular Genetics, 17, 458–465.
Article
PubMed
CAS
Google Scholar
Krapivinsky, G., Medina, I., Krapivinsky, L., Gapon, S., & Clapham, D. E. (2004). SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation. Neuron, 43, 563–574.
Article
PubMed
CAS
Google Scholar
Kutsche, K., Yntema, H., Brandt, A., Jantke, I., Nothwang, H. G., Orth, U., Boavida, M. G., David, D., Chelly, J., Fryns, J. P., Moraine, C., Ropers, H. H., Hamel, B. C., van Bokhoven, H., & Gal, A. (2000). Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nature Genetics, 26, 247–250.
Article
PubMed
CAS
Google Scholar
Lachman, H. M., Fann, C. S., Bartzis, M., Evgrafov, O. V., Rosenthal, R. N., Nunes, E. V., Miner, C., Santana, M., Gaffney, J., Riddick, A., Hsu, C. L., & Knowles, J. A. (2007). Genomewide suggestive linkage of opioid dependence to chromosome 14q. Human Molecular Genetics, 16, 1327–1334.
Article
PubMed
CAS
Google Scholar
Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M. P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., Laudier, B., Chelly, J., Fryns, J. P., Ropers, H. H., Hamel, B. C., Andres, C., Barthélémy, C., Moraine, C., & Briault, S. (2004). X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. American Journal of Human Genetics, 74, 552–557.
Article
PubMed
CAS
Google Scholar
Lawson-Yuen, A., Saldivar, J. S., Sommer, S., & Picker, J. (2008). Familial deletion within NLGN4 associated with autism and Tourette syndrome. European Journal of Human Genetics, 16, 614–618.
Article
PubMed
CAS
Google Scholar
Leonard, H., & Wen, X. (2002). The epidemiology of mental retardation: Challenges and opportunities in the new millennium. Mental Retardation and Developmental Disabilities Research Reviews, 8, 117–134.
Article
PubMed
Google Scholar
Levitt, P., & Campbell, D. B. (2009). The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. The Journal of Clinical Investigation, 119, 747–754.
Article
PubMed
CAS
Google Scholar
Lonze, B. E., & Ginty, D. D. (2002). Function and regulation of CREB family transcription factors in the nervous system. Neuron, 35, 605–623.
Article
PubMed
CAS
Google Scholar
Macarov, M., Zeigler, M., Newman, J. P., Strich, D., Sury, V., Tennenbaum, A., & Meiner, V. (2007). Deletions of VCX-A and NLGN4: A variable phenotype including normal intellect. Journal of Intellectual Disability Research, 51, 329–333.
Article
PubMed
CAS
Google Scholar
Marshall, C. R., et al. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82, 477–488.
Article
PubMed
CAS
Google Scholar
May, P. A., & Gossage, J. P. (2001). Estimating the prevalence of fetal alcohol syndrome: A summary. Alcohol Research and Health, 25, 159–167.
PubMed
CAS
Google Scholar
McLaren, J., & Bryson, S. E. (1987). Review of recent epidemiological studies of mental retardation: Prevalence, associated disorders, and etiology. American Journal of Mental Retardation, 92, 243–254.
PubMed
CAS
Google Scholar
Meng, J., Meng, Y., Hanna, A., Janus, C., & Jia, Z. (2005). Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3. Journal of Neuroscience, 25, 6641–6650.
Article
PubMed
CAS
Google Scholar
Meng, Y., Zhang, Y., Tregoubov, V., Janus, C., Cruz, L., Jackson, M., Lu, W. Y., MacDonald, J. F., Wang, J. Y., Falls, D. L., & Jia, Z. (2002). Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice. Neuron, 35, 121–133.
Article
PubMed
CAS
Google Scholar
Moon, S. Y., & Zheng, Y. (2003). Rho GTPase-activating proteins in cell regulation. Trends in Cell Biology, 13, 13–22.
Article
PubMed
CAS
Google Scholar
Morrow, E. M., et al. (2008). Identifying autism loci and genes by tracing recent shared ancestry. Science, 321, 218–223.
Article
PubMed
CAS
Google Scholar
Muddashetty, R. S., Kelić, S., Gross, C., Xu, M., & Bassell, G. J. (2007). Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome. Journal of Neuroscience, 27, 5338–5348.
Article
PubMed
CAS
Google Scholar
Nadif Kasri, N., & Van Aelst, L. (2008). Rho-linked genes and neurological disorders. Pflügers Archiv, 455, 787–797.
Article
PubMed
CAS
Google Scholar
Nakano-Kobayashi, A., Kasri, N. N., Newey, S. E., & Van Aelst, L. (2009). The Rho-linked mental retardation protein OPHN1 controls synaptic vesicle endocytosis via endophilin A1. Current Biology, 19, 1133–1139.
Article
PubMed
CAS
Google Scholar
Nasu-Nishimura, Y., Hayashi, T., Ohishi, T., Okabe, T., Ohwada, S., Hasegawa, Y., Senda, T., Toyoshima, C., Nakamura, T., & Akiyama, T. (2006). Role of the Rho GTPase-activating protein RICS in neurite outgrowth. Genes to Cells, 11, 607–614.
Article
PubMed
CAS
Google Scholar
Newey, S. E., Velamoor, V., Govek, E. E., & Van Aelst, L. (2005). Rho GTPases, dendritic structure, and mental retardation. Journal of Neurobiology, 64, 58–74.
Article
PubMed
CAS
Google Scholar
Niccols, A. (2007). Fetal alcohol syndrome and the developing socio-emotional brain. Brain and Cognition, 65, 135–142.
Article
PubMed
Google Scholar
Nimchinsky, E. A., Sabatini, B. L., & Svoboda, K. (2002). Structure and function of dendritic spines. Annual Review of Physiology, 64, 313–353.
Article
PubMed
CAS
Google Scholar
Nodé-Langlois, R., Muller, D., & Boda, B. (2006). Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis. Journal of Cell Science, 119, 4986–4993.
Article
PubMed
CAS
Google Scholar
Orloff, M. S., & Eng, C. (2008). Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome. Oncogene, 27, 5387–5397.
Article
PubMed
CAS
Google Scholar
Pak, D. T., Yang, S., Rudolph-Correia, S., Kim, E., & Sheng, M. (2001). Regulation of dendritic spine morphology by SPAR, a PSD-95-associated RapGAP. Neuron, 31, 289–303.
Article
PubMed
CAS
Google Scholar
Pavlowsky, A., Gianfelice, A., Pallotto, M., Zanchi, A., Vara, H., Khelfaoui, M., Valnegri, P., Rezai, X., Bassani, S., Brambilla, D., Kumpost, J., Blahos, J., Roux, M. J., Humeau, Y., Chelly, J., Passafaro, M., Giustetto, M., Billuart, P., & Sala, C. (2010). A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation. Current Biology, 20, 103–115.
Article
PubMed
CAS
Google Scholar
Pfeiffer, B. E., & Huber, K. M. (2009). The state of synapses in fragile X syndrome. The Neuroscientist, 15, 549–567.
Article
PubMed
CAS
Google Scholar
Pinto, D., et al. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466, 368–372.
Article
PubMed
CAS
Google Scholar
Purpura, D. P. (1974). Dendritic spine “dysgenesis” and mental retardation. Science, 186, 1126–1128.
Article
PubMed
CAS
Google Scholar
Rauch, A., Hoyer, J., Guth, S., Zweier, C., Kraus, C., Becker, C., Zenker, M., Hüffmeier, U., Thiel, C., Rüschendorf, F., Nürnberg, P., Reis, A., & Trautmann, U. (2006). Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. American Journal of Medical Genetics A, 140, 2063–2074.
Article
Google Scholar
Reeve, S. P., Bassetto, L., Genova, G. K., Kleyner, Y., Leyssen, M., Jackson, F. R., & Hassan, B. A. (2005). The Drosophila fragile X mental retardation protein controls actin dynamics by directly regulating profilin in the brain. Current Biology, 15, 1156–1163.
Article
PubMed
CAS
Google Scholar
Rex, C. S., Chen, L. Y., Sharma, A., Liu, J., Babayan, A. H., Gall, C. M., & Lynch, G. (2009). Different Rho GTPase-dependent signaling pathways initiate sequential steps in the consolidation of long-term potentiation. The Journal of Cell Biology, 186, 85–97.
Article
PubMed
CAS
Google Scholar
Roberts, A., Allanson, J., Jadico, S. K., Kavamura, M. I., Noonan, J., Opitz, J. M., Young, T., & Neri, G. (2006). The cardiofaciocutaneous syndrome. Journal of Medical Genetics, 43, 833–842.
Article
PubMed
CAS
Google Scholar
Roeleveld, N., Zielhuis, G. A., & Gabreëls, F. (1997). The prevalence of mental retardation: A critical review of recent literature. Developmental Medicine and Child Neurology, 39, 125–132.
Article
PubMed
CAS
Google Scholar
Ropers, H. H. (2010). Genetics of early onset cognitive impairment. Annual Review of Genomics and Human Genetics, 11, 161–187.
Article
PubMed
CAS
Google Scholar
Ropers, H. H., & Hamel, B. C. (2005). X-linked mental retardation. Nature Reviews Genetics, 6, 46–57.
Article
PubMed
CAS
Google Scholar
Rosenberger, G., Jantke, I., Gal, A., & Kutsche, K. (2003). Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling. Human Molecular Genetics, 12, 155–167.
Article
PubMed
CAS
Google Scholar
Rumbaugh, G., Adams, J. P., Kim, J. H., & Huganir, R. L. (2006). SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons. Proceedings of the National Academy of Sciences of the United States of America, 103, 4344–4351.
Article
PubMed
CAS
Google Scholar
Ryu, J., Futai, K., Feliu, M., Weinberg, R., & Sheng, M. (2008). Constitutively active Rap2 transgenic mice display fewer dendritic spines, reduced extracellular signal-regulated kinase signaling, enhanced long-term depression, and impaired spatial learning and fear extinction. Journal of Neuroscience, 28, 8178–8188.
Article
PubMed
CAS
Google Scholar
Schubbert, S., Bollag, G., & Shannon, K. (2007). Deregulated Ras signaling in developmental disorders: New tricks for an old dog. Current Opinion in Genetics and Development, 17, 15–22.
Article
PubMed
CAS
Google Scholar
Seidman, L. J., Buka, S. L., Goldstein, J. M., Horton, N. J., Rieder, R. O., & Tsuang, M. T. (2000). The relationship of prenatal and perinatal complications to cognitive functioning at age 7 in the New England Cohorts of the National Collaborative Perinatal Project. Schizophrenia Bulletin, 26, 309–321.
Article
PubMed
CAS
Google Scholar
Soderling, S. H., Guire, E. S., Kaech, S., White, J., Zhang, F., Schutz, K., Langeberg, L. K., Banker, G., Raber, J., & Scott, J. D. (2007). A WAVE-1 and WRP signaling complex regulates spine density, synaptic plasticity, and memory. Journal of Neuroscience, 27, 355–365.
Article
PubMed
CAS
Google Scholar
Spohr, H. L., Willms, J., & Steinhausen, H. C. (2007). Fetal alcohol spectrum disorders in young adulthood. The Journal of Pediatrics, 150, 175–179, 179.e171.
Article
PubMed
CAS
Google Scholar
Stanyon, C. A., & Bernard, O. (1999). LIM-kinase1. The International Journal of Biochemistry and Cell Biology, 31, 389–394.
Article
CAS
Google Scholar
Südhof, T. C. (2008). Neuroligins and neurexins link synaptic function to cognitive disease. Nature, 455, 903–911.
Article
PubMed
CAS
Google Scholar
Szatmari, P., et al. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39, 319–328.
Article
PubMed
CAS
Google Scholar
Tabuchi, K., Blundell, J., Etherton, M. R., Hammer, R. E., Liu, X., Powell, C. M., & Südhof, T. C. (2007). A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science, 318, 71–76.
Article
PubMed
CAS
Google Scholar
Tada, T., & Sheng, M. (2006). Molecular mechanisms of dendritic spine morphogenesis. Current Opinion in Neurobiology, 16, 95–101.
Article
PubMed
CAS
Google Scholar
Talebizadeh, Z., Lam, D. Y., Theodoro, M. F., Bittel, D. C., Lushington, G. H., & Butler, M. G. (2006). Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. Journal of Medical Genetics, 43, e21.
Article
PubMed
CAS
Google Scholar
Tassabehji, M., Metcalfe, K., Fergusson, W. D., Carette, M. J., Dore, J. K., Donnai, D., Read, A. P., Pröschel, C., Gutowski, N. J., Mao, X., & Sheer, D. (1996). LIM-kinase deleted in Williams syndrome. Nature Genetics, 13, 272–273.
Article
PubMed
CAS
Google Scholar
Thomas, G. M., & Huganir, R. L. (2004). MAPK cascade signalling and synaptic plasticity. Nature Reviews Neuroscience, 5, 173–183.
Article
PubMed
CAS
Google Scholar
Thomas, G. M., Lin, D. T., Nuriya, M., & Huganir, R. L. (2008). Rapid and bi-directional regulation of AMPA receptor phosphorylation and trafficking by JNK. EMBO Journal, 27, 361–372.
Article
PubMed
CAS
Google Scholar
Threadgill, R., Bobb, K., & Ghosh, A. (1997). Regulation of dendritic growth and remodeling by Rho, Rac, and Cdc42. Neuron, 19, 625–634.
Article
PubMed
CAS
Google Scholar
Walsh, T., et al. (2008). Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science, 320, 539–543.
Article
PubMed
CAS
Google Scholar
Wu, F., Chen, Y., Li, Y., Ju, J., Wang, Z., & Yan, D. (2008). RNA-interference-mediated Cdc42 silencing down-regulates phosphorylation of STAT3 and suppresses growth in human 100. bladder-cancer cells. Biotechnology and Applied Biochemistry, 49, 121–128.
Article
PubMed
CAS
Google Scholar
Wu, G. Y., Deisseroth, K., & Tsien, R. W. (2001). Spaced stimuli stabilize MAPK pathway activation and its effects on dendritic morphology. Nature Neuroscience, 4, 151–158.
Article
PubMed
CAS
Google Scholar
Yan, J., Feng, J., Schroer, R., Li, W., Skinner, C., Schwartz, C. E., Cook, E. H., & Sommer, S. S. (2008a). Analysis of the neuroligin 4Y gene in patients with autism. Psychiatric Genetics, 18, 204–207.
Article
PubMed
Google Scholar
Yan, J., Noltner, K., Feng, J., Li, W., Schroer, R., Skinner, C., Zeng, W., Schwartz, C. E., & Sommer, S. S. (2008b). Neurexin 1alpha structural variants associated with autism. Neuroscience Letters, 438, 368–370.
Article
PubMed
CAS
Google Scholar
Yan, Y., Yang, D., Zarnowska, E. D., Du, Z., Werbel, B., Valliere, C., Pearce, R. A., Thomson, J. A., & Zhang, S. C. (2005). Directed differentiation of dopaminergic neuronal subtypes from human embryonic stem cells. Stem Cells, 23, 781–790.
Article
PubMed
CAS
Google Scholar
Zahir, F. R., Baross, A., Delaney, A. D., Eydoux, P., Fernandes, N. D., Pugh, T., Marra, M. A., & Friedman, J. M. (2008). A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. Journal of Medical Genetics, 45, 239–243.
Article
PubMed
CAS
Google Scholar
Zalfa, F., Eleuteri, B., Dickson, K. S., Mercaldo, V., De Rubeis, S., di Penta, A., Tabolacci, E., Chiurazzi, P., Neri, G., Grant, S. G., & Bagni, C. (2007). A new function for the fragile X mental retardation protein in regulation of PSD-95 mRNA stability. Nature Neuroscience, 10, 578–587.
Article
PubMed
CAS
Google Scholar
Zhu, Y., Pak, D., Qin, Y., McCormack, S. G., Kim, M. J., Baumgart, J. P., Velamoor, V., Auberson, Y. P., Osten, P., van Aelst, L., Sheng, M., & Zhu, J. J. (2005). Rap2-JNK removes synaptic AMPA receptors during depotentiation. Neuron, 46, 905–916.
Article
PubMed
CAS
Google Scholar
Zhu, J. J., Qin, Y., Zhao, M., Van Aelst, L., & Malinow, R. (2002). Ras and Rap control AMPA receptor trafficking during synaptic plasticity. Cell, 110, 443–455.
Article
PubMed
CAS
Google Scholar
Zhu, X., Raina, A. K., Perry, G., & Smith, M. A. (2004). Alzheimer’s disease: The two-hit hypothesis. Lancet Neurology, 3, 219–226.
Article
PubMed
CAS
Google Scholar