ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2010
Animal models of Williams syndrome.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.Neuropsychology review · 2023Pooled it
- Unaltered empathy-related behaviors in Williams-Beuren syndrome mouse models.Molecular brain · 2026Article
- Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.World journal of pediatrics : WJP · 2026Review
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- RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.Journal of genetics and genomics = Yi chuan xue bao · 2024Article
- Strategies for dissecting the complexity of neurodevelopmental disorders.Trends in genetics : TIG · 2024Review
- Neuronal Gtf2i deletion alters mitochondrial and autophagic properties.Communications biology · 2023Article
- Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome.Journal of neurodevelopmental disorders · 2023Article
- Deletion ofBiomedicines · 2023Article
- Article
- Article
- Article
- Human Brain Models of Intellectual Disability: Experimental Advances and Novelties.International journal of molecular sciences · 2022Review
- Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Core transcriptional networks in Williams syndrome: IGF1-PI3K-AKT-mTOR, MAPK and actin signaling at the synapse echo autism.Human molecular genetics · 2021Article
- Postnatal therapeutic approaches in genetic neurodevelopmental disorders.Neural regeneration research · 2021Review
- From Hyposociability to Hypersociability-The Effects of PSD-95 Deficiency on the Dysfunctional Development of Social Behavior.Frontiers in behavioral neuroscience · 2021Article
- The sociability spectrum: evidence from reciprocal genetic copy number variations.Molecular autism · 2020Review
- Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences.Human molecular genetics · 2020Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
In recent years, researchers have generated a variety of mouse models in an attempt to dissect the contribution of individual genes to the complex phenotype associated with Williams syndrome (WS). The mouse genome is easily manipulated to produce animals that are copies of humans with genetic conditions, be it with null mutations, hypomorphic mutations, point mutations, or even large deletions encompassing many genes. The existing mouse models certainly seem to implicate hemizygosity for ELN, BAZ1B, CLIP2, and GTF2IRD1 in WS, and new mice with large deletions of the WS region are helping us to understand both the additive and potential combinatorial effects of hemizygosity for specific genes. However, not all genes that are haploinsufficient in humans prove to be so in mice and the effect of genetic background can also have a significant effect on the penetrance of many phenotypes. Thus although mouse models are powerful tools, the information garnered from their study must be carefully interpreted. Nevertheless, mouse models look set to provide a wealth of information about the neuroanatomy, neurophysiology and molecular pathways that underlie WS and in the future will act as essential tools for the development and testing of therapeutics.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.