The DOI matches its Crossref record; 60 of the 60 references it cites were found in a registry or an index.
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.
Overview
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
Verification
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
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
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
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-citation
Cited by
Sorted by citations
Trujillo, C. A., Gao, R., Negraes, P. D., Gu, J., Buchanan, J., Preissl, S., Wang, A., Wu, W., Haddad, G. G., Chaim, I. A., et al. (2019) · Cell Stem Cell · doi:10.1016/j.stem.2019.08.002 · Cited by 974
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
Development of prefrontal cortex
Kolk, S. M., & Rakic, P. (2022) · Neuropsychopharmacology · doi:10.1038/s41386-021-01137-9 · Cited by 378
“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
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
