The DOI matches its Crossref record; 210 of the 210 references it cites were found in a registry or an index.
Genetic and Epigenetic Networks in Intellectual Disabilities
Abstract
Mutations in more than 450 different genes have been associated with intellectual disability (ID) and related cognitive disorders (CDs), such as autism. It is to be expected that this number will increase three to fourfold in the next years due to the rapid implementation of innovative high-throughput sequencing technology in genetics labs. Numerous functional relationships have been identified between the products of individual ID genes, and common molecular and cellular pathways onto which these networks converge are beginning to emerge. Prominent examples are genes involved in synaptic plasticity, Ras and Rho GTPase signaling, and epigenetic genes that encode modifiers of the chromatin structure. It thus seems that there might be common pathological patterns in ID, despite its bewildering genetic heterogeneity. These common pathways provide attractive opportunities for knowledge-based therapeutic interventions.
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“Various genetic approaches have been successful in identifying the causes of more than 1,000 Mendelian, and fewer non-Mendelian, forms of neurodevelopmental disorders: prototypical examples are intellectual disability62–68, autism spectrum disorder (ASD)69–77, epilepsy78,79 and schizophrenia80–82.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [63]
Citations
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Diagnostic exome sequencing in persons with severe intellectual disability
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Metadata
- Authors
- van Bokhoven, H.
- Affiliations
- Molecular Neurogenetics Unit, Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, and Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition, and Behavior, Radboud University, Nijmegen Medical Center, 6500 HB Nijmegen, The Netherlands;
- Venue
- Annual Review of Genetics
- Publisher
- Annual Reviews
- Published
- 2011-12-15
- Volume
- 45
- Issue
- 1
- Pages
- 81-104
- ISSN
- 0066-4197 (ISSN-L)
- 1545-2948
- OpenAlex
- W2160616996
- Semantic Scholar
- cebf2b88230f016c9d33fe39a870dc47be6bc913
- Cited by
- 382
- References
- 210
- Citations by year
- 2026: 12 · 2025: 12 · 2024: 15 · 2023: 17 · 2022: 19 · 2021: 34 · 2020: 30 · 2019: 20 · 2018: 28 · 2017: 29 · 2016: 33 · 2015: 36 · 2014: 44 · 2013: 33 · 2012: 18
- FWCI
- 3.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annual Review of Genetics (publishedVersion)
- PubMed (publishedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- intellectual disability, cognitive disorders, autism spectrum disorder, gene networks, epigenetic networks, synaptic plasticity, Ras signaling, Rho GTPase signaling, chromatin structure, genetic heterogeneity, therapeutic target
- MeSH terms
- Autistic Disorder, Chromosome Aberrations, Chromosomes, Human, Cognition Disorders, Cytoskeletal Proteins, Humans, Intellectual Disability, Mutation, Spine, Synapses, Transcription, Genetic, Signal Transduction, Genetic Diseases, Inborn, Epigenesis, Genetic, Gene Regulatory Networks
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