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A human neurodevelopmental model for Williams syndrome
Open accessAbstract
Williams syndrome is a genetic neurodevelopmental disorder characterized by an uncommon hypersociability and a mosaic of retained and compromised linguistic and cognitive abilities. Nearly all clinically diagnosed individuals with Williams syndrome lack precisely the same set of genes, with breakpoints in chromosome band 7q11.23 (refs 1-5). The contribution of specific genes to the neuroanatomical and functional alterations, leading to behavioural pathologies in humans, remains largely unexplored. Here we investigate neural progenitor cells and cortical neurons derived from Williams syndrome and typically developing induced pluripotent stem cells. Neural progenitor cells in Williams syndrome have an increased doubling time and apoptosis compared with typically developing neural progenitor cells. Using an individual with atypical Williams syndrome, we narrowed this cellular phenotype to a single gene candidate, frizzled 9 (FZD9). At the neuronal stage, layer V/VI cortical neurons derived from Williams syndrome were characterized by longer total dendrites, increased numbers of spines and synapses, aberrant calcium oscillation and altered network connectivity. Morphometric alterations observed in neurons from Williams syndrome were validated after Golgi staining of post-mortem layer V/VI cortical neurons. This model of human induced pluripotent stem cells fills the current knowledge gap in the cellular biology of Williams syndrome and could lead to further insights into the molecular mechanism underlying the disorder and the human social brain.
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In the citing paper
“Williams (WBS or WS) syndrome is a rare NDD with a deletion of approximately 25 genes on chromosome 7 and characterized by an unusual sociability and cognitive deficits [297].”
From Development of prefrontal cortex (2022) · cites this paper as [297]
Experimental — accuracy not yet measuredIn the citing paper
“deletion variants upstream of FZD9 had previously been associated with cell fraction changes related to Williams syndrome (40).”
From Comprehensive functional genomic resource and integrative model for the human brain (2018) · cites this paper as [40]
In the citing paper
“An increase in dendrite length and synaptogenesis has also been reported in neuron models of Williams syndrome (Chailangkarn et al., 2016) and SHANK2 (Zaslavsky et al., 2019), further highlight how different mutations of the same gene or different genes can have opposing effects on a cellular phenotype”
From Getting to the cores of autism (2019) · cites this paper as Chailangkarn et al., 2016
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Cites
Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method
Livak, K. J., & Schmittgen, T. D. (2001) · Methods · doi:10.1006/meth.2001.1262 · Cited by 180,860
Cytoscape: A software Environment for integrated models of biomolecular interaction networks
Shannon, P., Markiel, A., Ozier, O., Baliga, N. S., Wang, J. T., Ramage, D., Amin, N., Schwikowski, B., & Ideker, T. (2003) · Genome Research · doi:10.1101/gr.1239303 · Cited by 51,888
Desikan, R. S., Ségonne, F., Fischl, B., Quinn, B. T., Dickerson, B. C., Blacker, D., Buckner, R. L., Dale, A. M., Maguire, R. P., Hyman, B. T., et al. (2006) · NeuroImage · doi:10.1016/j.neuroimage.2006.01.021 · Cited by 13,324
Self-citationCortical Surface-Based Analysis
Dale, A. M., Fischl, B., & Sereno, M. I. (1999) · NeuroImage · doi:10.1006/nimg.1998.0395 · Cited by 10,910
Self-citationCortical Surface-Based Analysis
Fischl, B., Sereno, M. I., & Dale, A. M. (1999) · NeuroImage · doi:10.1006/nimg.1998.0396 · Cited by 6,147
Self-citationMeasuring the thickness of the human cerebral cortex from magnetic resonance images
Fischl, B. R., & Dale, A. M. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.200033797 · Cited by 5,995
Self-citationaffy—analysis of Affymetrix GeneChip data at the probe level
Gautier, L., Cope, L., Bolstad, B. M., & Irizarry, R. A. (2004) · Bioinformatics · doi:10.1093/bioinformatics/btg405 · Cited by 5,221
Automatically Parcellating the Human Cerebral Cortex
Fischl, B. R. (2003) · Cerebral Cortex · doi:10.1093/cercor/bhg087 · Cited by 4,208
Mutation of the mouse klotho gene leads to a syndrome resembling ageing
Kuro-o, M., Matsumura, Y., Aizawa, H., Kawaguchi, H., Suga, T., Utsugi, T., Ohyama, Y., Kurabayashi, M., Kaname, T., Kume, E., et al. (1997) · Nature · doi:10.1038/36285 · Cited by 3,837
Automatic parcellation of human cortical gyri and sulci using standard anatomical nomenclature
Destrieux, C., Fischl, B., Dale, A., & Halgren, E. (2010) · NeuroImage · doi:10.1016/j.neuroimage.2010.06.010 · Cited by 2,956
Self-citationSequence-independent segmentation of magnetic resonance images
Fischl, B. R., Salat, D. H., van der Kouwe, A. J. W., Makris, N., Ségonne, F., Quinn, B. T., & Dale, A. M. (2004) · NeuroImage · doi:10.1016/j.neuroimage.2004.07.016 · Cited by 2,117
Self-citationWebGestalt: an integrated system for exploring gene sets in various biological contexts
Zhang, B., Kirov, S. A., & Snoddy, J. R. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki475 · Cited by 1,803
Jho, E., Zhang, T., Domon–Dell, C., Joo, C., Freund, J., & Costantini, F. D. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.4.1172-1183.2002 · Cited by 1,683
Marchetto, M. C. N., Carromeu, C., Acab, A., Yu, D., Yeo, G. W., Mu, Y., Chen, G., Gage, F. H., & Muotri, A. R. (2010) · Cell · doi:10.1016/j.cell.2010.10.016 · Cited by 1,329
Self-citationJovicich, J., Czanner, S., Greve, D. N., Haley, E., van der Kouwe, A. J. W., Gollub, R. L., Kennedy, D. N., Schmitt, F., Brown, G. G., MacFall, J. R., et al. (2005) · NeuroImage · doi:10.1016/j.neuroimage.2005.09.046 · Cited by 1,269
Self-citationHemizygosity at the elastin locus in a developmental disorder, Williams syndrome
Ewart, A. K., Morris, C. A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A. D., Leppert, M., & Keating, M. T. (1993) · Nature Genetics · doi:10.1038/ng0993-11 · Cited by 1,138 · cited 1×
“The scores for the participants were at the mean for WS (9) or higher, with the individual with partial deletion in the WS chromosomal region (pWS88) scoring lower than the individuals with typical WS deletion.”
BackgroundLlorens-Bobadilla, E., Zhao, S., Baser, A., Saiz-Castro, G., Zwadlo, K., & Martin-Villalba, A. (2015) · Cell Stem Cell · doi:10.1016/j.stem.2015.07.002 · Cited by 778
Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders
Hutsler, J. J., & Zhang, H. (2010) · Brain Research · doi:10.1016/j.brainres.2009.09.120 · Cited by 765
I. The Neurocognitive Profile of Williams Syndrome: A Complex Pattern of Strengths and Weaknesses
Bellugi, U., Lichtenberger, L., Jones, W., Lai, Z. C., & George, M. S. (2000) · Journal of Cognitive Neuroscience · doi:10.1162/089892900561959 · Cited by 706
Self-citationRegional Dendritic and Spine Variation in Human Cerebral Cortex: a Quantitative Golgi Study
Jacobs, B. (2001) · Cerebral Cortex · doi:10.1093/cercor/11.6.558 · Cited by 423
Self-citationThe determination of projection neuron identity in the developing cerebral cortex
Leone, D. P., Srinivasan, K., Chen, B., Alcamo, E., & McConnell, S. K. (2008) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2008.05.006 · Cited by 382
PROMO: Real‐time prospective motion correction in MRI using image‐based tracking
White, N. S., Roddey, J. C., Shankaranarayanan, A., Han, E. T., Rettmann, D. W., Santos, J. M., Kuperman, J., & Dale, A. M. (2009) · Magnetic Resonance in Medicine · doi:10.1002/mrm.22176 · Cited by 377
Self-citationChen, B., Wang, S. S., Hattox, A. M., Rayburn, H., Nelson, S. B., & McConnell, S. K. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804918105 · Cited by 351
Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome
Bellugi, U., Lichtenberger, L., Mills, D. L., Galaburda, A. M., & Korenberg, J. R. (1999) · Trends in Neurosciences · doi:10.1016/s0166-2236(99)01397-1 · Cited by 351 · cited 2×
“The neurites were considered dendrites based on the criteria applied in postmortem studies: (1) thickness that decreased with the distance from the cell body; (2) branches emerging under acute angle; and (3) presence of dendritic spines.”
MethodSelf-citationLian, X. L., Bao, X., Al-Ahmad, A. J., Liu, J., Wu, Y., Dong, W., Dunn, K. K., Shusta, E. V., & Palecek, S. P. (2014) · Stem Cell Reports · doi:10.1016/j.stemcr.2014.09.005 · Cited by 321
Takashima, S., Becker, L. E., Armstrong, D. L., & Chan, F. (1981) · Brain Research · doi:10.1016/0006-8993(81)90314-0 · Cited by 307
“Everybody in the world is my friend” hypersociability in young children with Williams syndrome
Doyle, T. F., Bellugi, U., Korenberg, J. R., & Graham, J. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20416 · Cited by 296 · cited 1×
“Following the recommendation that the applications of Sholl’s concentric spheres or Eayrs’ concentric circles for the analysis of neuronal morphology are not adequate when neuronal morphology is analyzed in three dimensions49, we conducted dendritic tree analysis with the following measurements 38, 48: (1) soma area –…”
MethodSelf-citationStructural abnormalities of the cerebral cortex in human chromosomal aberrations: a Golgi study
Marin-Padilla, M. (1972) · Brain Research · doi:10.1016/0006-8993(72)90324-1 · Cited by 290
Neural Basis of Genetically Determined Visuospatial Construction Deficit in Williams Syndrome
Meyer‐Lindenberg, A., Kohn, P. D., Mervis, C. Β., Kippenhan, J. S., Olsen, R. K., Morris, C. A., & Berman, K. F. (2004) · Neuron · doi:10.1016/j.neuron.2004.08.014 · Cited by 287 · cited 2×
“The neurites were considered dendrites based on the criteria applied in postmortem studies: (1) thickness that decreased with the distance from the cell body; (2) branches emerging under acute angle; and (3) presence of dendritic spines.”
VI. Genome structure and cognitive map of Williams syndrome
Korenberg, J. R., Chen, X.-N., Hirota, H., Lai, Z., Bellugi, U., Burian, D., Roe, B., & Matsuoka, R. (2000) · Journal of Cognitive Neuroscience · doi:10.1162/089892900562002 · Cited by 285 · cited 2×
“The neurites were considered dendrites based on the criteria applied in postmortem studies: (1) thickness that decreased with the distance from the cell body; (2) branches emerging under acute angle; and (3) presence of dendritic spines.”
MethodSelf-citationDifferential L1 regulation in pluripotent stem cells of humans and apes
Marchetto, M. C., Narvaiza, I., Denli, A. M., Benner, C. W., Lazzarini, T. A., Nathanson, J. L., Paquola, A. C. M., Desai, K. N., Herai, R. H., Weitzman, M. D., et al. (2013) · Nature · doi:10.1038/nature12686 · Cited by 241
Self-citationSpatial Organization of Neurons in the Frontal Pole Sets Humans Apart from Great Apes
Semendeferi, K., Teffer, K., Buxhoeveden, D. P., Park, M. S., Bludau, S., Amunts, K., Travis, K., & Buckwalter, J. (2011) · Cerebral Cortex · doi:10.1093/cercor/bhq191 · Cited by 210
Self-citation3D pattern of brain abnormalities in Williams syndrome visualized using tensor-based morphometry
Chiang, M.-C., Reiss, A. L., Lee, A. D., Bellugi, U., Galaburda, A. M., Korenberg, J. R., Mills, D. L., Toga, A. W., & Thompson, P. M. (2007) · NeuroImage · doi:10.1016/j.neuroimage.2007.04.024 · Cited by 203
Self-citationA quantitative dendritic analysis of wernicke's area in humans. I. Lifespan changes
Jacobs, B., & Scheibel, A. B. (1993) · The Journal of Comparative Neurology · doi:10.1002/cne.903270107 · Cited by 190
Self-citationFrequentist prediction intervals and predictive distributions
Lawless, J. F., & Frédette, M. (2005) · Biometrika · doi:10.1093/biomet/92.3.529 · Cited by 187
The metric analysis of three-dimensional dendritic tree patterns: a methodological review
Uylings, H. B. M., Ruiz‐Marcos, A., & van Pelt, J. (1986) · Journal of Neuroscience Methods · doi:10.1016/0165-0270(86)90116-0 · Cited by 187
Järvinen-Pasley, A., Bellugi, U., Reilly, J., MILLS, D. L., Galaburda, A., Reiss, A. L., & Korenberg, J. R. (2008) · Development and Psychopathology · doi:10.1017/s0954579408000011 · Cited by 177
Self-citationSrinivasan, K., Leone, D. P., Bateson, R. K., Dobreva, G., Kohwi, Y., Kohwi-Shigematsu, T., Grosschedl, R., & McConnell, S. K. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1216793109 · Cited by 171
Marín‐Padilla, M. (1970) · Brain Research · doi:10.1016/0006-8993(70)90038-7 · Cited by 157
Methods for qPCR gene expression profiling applied to 1440 lymphoblastoid single cells
Livak, K. J., Wills, Q. F., Tipping, A. J., Datta, K., Mittal, R., Goldson, A. J., Sexton, D. W., & Holmes, C. C. (2012) · Methods · doi:10.1016/j.ymeth.2012.10.004 · Cited by 151
Orchestrating neuronal differentiation: patterns of Ca2+ spikes specify transmitter choice.
Spitzer, N., Root, C. M., & Borodinsky, L. N. (2004) · Trends in Neurosciences · doi:10.1016/j.tins.2004.05.003 · Cited by 132
Williams, R. S., Ferrante, R. J., & Caviness, V. S. (1978) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-197801000-00002 · Cited by 131
Adamo, A., Atashpaz, S., Germain, P.-L., Zanella, M., D'Agostino, G., Albertin, V., Chenoweth, J., Micale, L., Fusco, C., Unger, C., et al. (2015) · Nature Genetics · doi:10.1038/ng.3169 · Cited by 129
Zhao, C., Avilés, C., Abel, R., Almli, C. R., McQuillen, P. S., & Pleasure, S. J. (2005) · Development · doi:10.1242/dev.01871 · Cited by 126
Prospective motion correction of high-resolution magnetic resonance imaging data in children
Brown, T. T., Kuperman, J. M., Erhart, M. J., White, N. S., Roddey, J. C., Shankaranarayanan, A., Han, E. T., Rettmann, D. W., & Dale, A. M. (2010) · NeuroImage · doi:10.1016/j.neuroimage.2010.06.017 · Cited by 125
Self-citationEdelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., Lauriat, T., Ouchanov, L., González, P. J., Manghi, E. R., Bondy, P., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2006.044537 · Cited by 113 · cited 1×
“Following the recommendation that the applications of Sholl’s concentric spheres or Eayrs’ concentric circles for the analysis of neuronal morphology are not adequate when neuronal morphology is analyzed in three dimensions49, we conducted dendritic tree analysis with the following measurements 38, 48: (1) soma area –…”
MethodFeeder-Free Derivation of Induced Pluripotent Stem Cells from Human Immature Dental Pulp Stem Cells
Beltrão-Braga, P. C. B., Pignatari, G. C., Maiorka, P. C., Oliveira, N. A. D. J., Lizier, N. F., Wenceslau, C. V., Miglino, M. A., Muotri, A. R., & Kerkis, I. (2011) · Cell Transplantation · doi:10.3727/096368911x566235 · Cited by 111
Self-citationDai, L., Bellugi, U., Chen, X. ‐., Pulst‐Korenberg, A. M., Järvinen‐Pasley, A., Tirosh‐Wagner, T., Eis, P. S., Graham, J. M., Mills, D. L., Searcy, Y. M., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32652 · Cited by 107 · cited 1×
“Following the recommendation that the applications of Sholl’s concentric spheres or Eayrs’ concentric circles for the analysis of neuronal morphology are not adequate when neuronal morphology is analyzed in three dimensions49, we conducted dendritic tree analysis with the following measurements 38, 48: (1) soma area –…”
MethodSelf-citationTranscriptional and Translational Heterogeneity among Neonatal Mouse Spermatogonia1
Hermann, B. P., Mutoji, K. N., Velte, E. K., Ko, D., Oatley, J. M., Geyer, C. B., & McCarrey, J. R. (2015) · Biology of Reproduction · doi:10.1095/biolreprod.114.125757 · Cited by 104
Wnt-mediated Down-regulation of Sp1 Target Genes by a Transcriptional Repressor Sp5
Fujimura, N., Vacı́k, T., Machoň, O., Vlček, Č., Scalabrin, S., Speth, M. T., Diep, D. B., Krauss, S. J. K., & Kozmík, Z. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m605851200 · Cited by 82
A reliable golgi-kopsch modification
Riley, J. N. (1979) · Brain Research Bulletin · doi:10.1016/0361-9230(79)90067-4 · Cited by 60
Perinatal growth of prefrontal layer III pyramids in down syndrome
Vukšić, M., Petanjek, Z., Rašin, M. R., & Kostović, I. (2002) · Pediatric Neurology · doi:10.1016/s0887-8994(02)00380-6 · Cited by 59
Prospective motion correction improves diagnostic utility of pediatric MRI scans
Kuperman, J. M., Brown, T. T., Golsefidi, M. A., Erhart, M. J., White, N. S., Roddey, J. C., Shankaranarayanan, A., Han, E. T., Rettmann, D. W., & Dale, A. M. (2011) · Pediatric Radiology · doi:10.1007/s00247-011-2205-1 · Cited by 57
Self-citationChen, J., Lin, M., Foxe, J. J., Pedrosa, E., Hrabovsky, A., Carroll, R. C., Zheng, D., & Lachman, H. M. (2013) · PLoS ONE · doi:10.1371/journal.pone.0075682 · Cited by 46
Modeling neurodevelopmental disorders using human neurons
Chailangkarn, T., Acab, A., & Muotri, A. R. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2012.04.004 · Cited by 44
Self-citationSystematic optimization of human pluripotent stem cells media using Design of Experiments
Marinho, P. A., Chailangkarn, T., & Muotri, A. R. (2015) · Scientific Reports · doi:10.1038/srep09834 · Cited by 42
Self-citationSiRNA of Frizzled-9 suppresses proliferation and motility of hepatoma cells
Tomizawa (2009) · International Journal of Oncology · doi:10.3892/ijo_00000400 · Cited by 40
frizzled 9 is expressed in neural precursor cells in the developing neural tube
Raay, T. J. V., Wang, Y.-K., Stark, M. R., Rasmussen, J. T., Francke, U., Vetter, M. L., & Rao, M. S. (2001) · Development Genes and Evolution · doi:10.1007/s004270100174 · Cited by 27
Quantitative analysis of cortical pyramidal neurons after corpus callosotomy
Jacobs, B., Creswell, J., Britt, J. P., Ford, K. L., Bogen, J. E., & Eran Zaidel, B. (2003) · Annals of Neurology · doi:10.1002/ana.10620 · Cited by 16
Self-citationDendritic arborization in the human fetus and infant with the trisomy 18 syndrome
Jay, V., Chan, F.-W., & Becker, L. E. (1990) · Developmental Brain Research · doi:10.1016/0165-3806(90)90153-p · Cited by 10
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Self-citationComprehensive functional genomic resource and integrative model for the human brain
Wang, D., Liu, S., Warrell, J., Won, H., Shi, X., Navarro, F. C. P., Clarke, D., Gu, M., Emani, P., Yang, Y. T., et al. (2018) · Science · doi:10.1126/science.aat8464 · Cited by 965
“Perhaps connected to this, deletion variants upstream of FZD9 had previously been associated with cell fraction changes related to Williams syndrome (40).”
BackgroundDendritic structural plasticity and neuropsychiatric disease
Forrest, M. P., Parnell, E., & Penzes, P. (2018) · Nature Reviews Neuroscience · doi:10.1038/nrn.2018.16 · Cited by 464
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“Williams (WBS or WS) syndrome is a rare NDD with a deletion of approximately 25 genes on chromosome 7 and characterized by an unusual sociability and cognitive deficits [297].”
BackgroundThomas, C. A., Tejwani, L., Trujillo, C. A., Negraes, P. D., Herai, R. H., Mesci, P., Macia, A., Crow, Y. J., & Muotri, A. R. (2017) · Cell Stem Cell · doi:10.1016/j.stem.2017.07.009 · Cited by 330
“E), we differentiated these lines into NPCs, neurons and astrocytes using established protocols (Figures S2A–S2E) (Chailangkarn et al., 2016; Griesi-Oliveira et al., 2015; Marchetto et al., 2010).”
MethodSelf-citation
Metadata
- Authors
- Chailangkarn, T., Trujillo, C. A., Freitas, B. C., Hrvoj-Mihic, B., Herai, R. H., Yu, D. X., Brown, T. T., Marchetto, M. C., Bardy, C., McHenry, L., Stefanacci, L., Järvinen, A., Searcy, Y. M., DeWitt, M., Wong, W., Lai, P., Ard, M. C., Hanson, K. L., Romero, S., Jacobs, B., Dale, A. M., Dai, L., Korenberg, J. R., Gage, F. H., Bellugi, U., Halgren, E., Semendeferi, K., & Muotri, A. R.
- Affiliations
- University of California San Diego (US)
- Pontifícia Universidade Católica do Paraná (BR)
- Salk Institute for Biological Studies (US)
- Colorado College (US)
- University of Utah (US)
- Corresponding author
- Semendeferi, Katerina
- Muotri, Alysson R.
- ORCID
- Venue
- Nature
- Published
- 2016-08
- Volume
- 536
- Issue
- 7616
- Pages
- 338-343
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC4995142
- OpenAlex
- W2510152931
- Cited by
- 195
- References
- 60
- Citations by year
- 2026: 8 · 2025: 11 · 2024: 14 · 2023: 15 · 2022: 16 · 2021: 20 · 2020: 23 · 2019: 27 · 2018: 30 · 2017: 27 · 2016: 4
- FWCI
- 14.97
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institutes of Health (1dp2od006495-01)
- U.S. Public Health Service (P01 NICHD033113)
- National Institute of Mental Health (T32MH020002, R01MH095741, R01MH103134, U19MH107367, U19MH106434, R01MH094753, R56MH109587, R01MH100175)
- National Institute on Deafness and Other Communication Disorders (T32DC007361)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Pluripotent Stem Cells Research
- Keywords
- Williams syndrome, induced pluripotent stem cells, neural progenitor cells, cortical neurons, FZD9, haploinsufficiency, apoptosis, dendritic morphology, synapses, calcium oscillations, neuronal network connectivity, social brain, neurodevelopmental disorders, 7q11.23 deletion
- MeSH terms
- Adolescent, Adult, Brain, Calcium, Cell Differentiation, Cerebral Cortex, Chromosomes, Human, Pair 7, Dendrites, Female, Humans, Male, Models, Neurological, Neurons, Phenotype, Synapses, Reproducibility of Results, Apoptosis, Williams Syndrome, Cell Shape, Frizzled Receptors, Young Adult, Induced Pluripotent Stem Cells, Haploinsufficiency, Neural Stem Cells, Cellular Reprogramming
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