ArticleHuman genetics2010
Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Human Brain Models of Intellectual Disability: Experimental Advances and Novelties.International journal of molecular sciences · 2022Review
- 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
- Integrative network analysis reveals biological pathways associated with Williams syndrome.Journal of child psychology and psychiatry, and allied disciplines · 2019Article
- Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome.Molecular brain · 2015Article
- The developmental transcriptome of the human brain: implications for neurodevelopmental disorders.Current opinion in neurology · 2014Review
- Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Molecular cytogenetics · 2014Article
- Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.PLoS computational biology · 2011Article
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Authors and funding
3 authors at 2 institutions in 1 country.
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Abstract
Williams-Beuren syndrome is a neurodevelopmental disorder mainly characterized by dysmorphic features, vascular stenoses, abnormalities of calcium and glucose metabolism, and mental retardation with visuospatial deficits, caused by de novo deletion of 26-28 genes at 7q11.23. Clinical-molecular correlations have defined critically deleted genes as likely responsible for several aspects of the phenotype, but the precise biological pathways affected are mostly unknown. We performed comparative transcriptome profiling of lymphoblastoid cell lines from four Williams-Beuren syndrome patients and two patients with smaller deletions and partial phenotypes. We detected 92 genes deregulated in all patients and 47 genes deregulated only in Williams-Beuren syndrome, with two additional clusters differentially expressed between both groups. Glycolysis and neuronal migration were the most significantly affected pathways by over-representation analyses. In addition, several genes involved in microtubule formation were specifically deregulated in patients with the common deletion. In summary, comparative expression profiling in lymphoblasts has revealed abnormal regulation of gene pathways potentially related to relevant aspects of the Williams-Beuren syndrome phenotype, including the cognitive, visuospatial and metabolic disturbances.
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