De novo mutations in schizophrenia implicate synaptic networks
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Summary
Genes affected by mutations in schizophrenia overlap those mutated in autism and intellectual disability, as do mutation-enriched synaptic pathways, and pathophysiology shared with other neurodevelopmental disorders.
- Type
- article
- Published
- 2014-01-22
- Cited by
- 1,627
- References
- 45
- Access
- Open access
- OpenAlex
- https://openalex.org/W2023962370
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:3578143
Keywords
Biology, Genetics, Mutation, Postsynaptic density, Fragile X syndrome
References
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- Schizophrenia: a common disease caused by multiple rare alleles
- A systematic review and meta‐analysis of the fertility of patients with schizophrenia and their unaffected relatives
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- Arc in synaptic plasticity: from gene to behavior
- Organization of brain complexity--synapse proteome form and function.
- Presynaptic Neurexin-3 Alternative Splicing Trans-Synaptically Controls Postsynaptic AMPA-Receptor Trafficking
- KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV
- Arc/Arg3.1 is a postsynaptic mediator of activity-dependent synapse elimination in the developing cerebellum.
- Neurocognition in first-episode schizophrenia: a meta-analytic review.
- SynSysNet: integration of experimental data on synaptic protein–protein interactions with drug-target relations
- New views of Arc, a master regulator of synaptic plasticity
- Increased exonic de novo mutation rate in individuals with schizophrenia
- The Translation of Translational Control by FMRP: Therapeutic Targets for Fragile X Syndrome
- Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
- Genetic Architectures of Psychiatric Disorders: The Emerging Picture and Its Implications
- Rate of de novo mutations and the importance of father’s age to disease risk
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- Schizophrenia: caused by a fault in programmed synaptic elimination during adolescence?
- Genetics: Fish heads and human disease
Cited by
- Synaptic dysregulation in a human iPS cell model of mental disorders
- Etiology of Autism Spectrum Disorder: A Genomics Perspective
- A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
- Epistatic and gene wide effects in YWHA and aromatic amino hydroxylase genes across ADHD and other common neuropsychiatric disorders: Association with YWHAE
- Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes
- Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci
- Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
- De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity
- A schizophrenia-linked KALRN coding variant alters neuron morphology, protein function, and transcript stability
- Enrichment of rare genetic variants in astrocyte gene enriched co-expression modules altered in postmortem brain samples of schizophrenia.
- Risk gene-set and pathways in 22q11.2 deletion-related schizophrenia: a genealogical molecular approach
- New insights on synaptic dysfunction in neuropsychiatric disorders.
- Genetics of Eating Disorders: What the Clinician Needs to Know.
- A framework for de-novo mutations discovery in Next Generation Sequencing data
- Ethical and public policy challenges for pharmacogenomics
- Opposing effects of glutamatergic and GABAergic pharmacological manipulations on a visual perception task with relevance to schizophrenia
- Oscillations dans la bande de fréquence gamma dans des modèles de rongeurs pour la schizophrénie
- F-actin dynamics in dendritic spines
- The effect of Neuregulin 1 on PCP induced alterations of locomotion, neurotransmission and cell growth as relevant for schizophrenia
- An Integrative Genomic Study Implicates the Postsynaptic Density in the Pathogenesis of Bipolar Disorder
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