ArticleFrontiers in genetics2012
miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome.
Article in Frontiers in genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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The trial behind it
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Who cites it
28 citing papers in PubMed, 41 citations in OpenAlex.
- The systemic effects of 22q11.2 deletion syndrome on immunity.Journal of human immunity · 2026Review
- Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p.Human genomics · 2024Article
- Review: Genes Involved in Mitochondrial Physiology Within 22q11.2 Deleted Region and Their Relevance to Schizophrenia.Schizophrenia bulletin · 2023Article
- Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.International journal of molecular sciences · 2023Review
- The Cajal body marker protein coilin is SUMOylated and possesses SUMO E3 ligase-like activity.Frontiers in RNA research · 2023Article
- Schizophrenia Risk Mediated by microRNA Target Genes Overlapped by Genome-Wide Rare Copy Number Variation in 22q11.2 Deletion Syndrome.Frontiers in genetics · 2022Article
- Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.Molecular psychiatry · 2021Article
- Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.Frontiers in genetics · 2021Article
- Breast cancer associated germline structural variants harboring small noncoding RNAs impact post-transcriptional gene regulation.Scientific reports · 2018Article
- Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.The American journal of psychiatry · 2017Article
- Diagnostic and therapeutic potential of microRNAs in neuropsychiatric disorders: Past, present, and future.Progress in neuro-psychopharmacology & biological psychiatry · 2017Review
- Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.Prenatal diagnosis · 2017Article
- Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.BioMed research international · 2016Article
- 22q11.2 deletion syndrome.Nature reviews. Disease primers · 2015Review
- SUMOylation at K707 of DGCR8 controls direct function of primary microRNA.Nucleic acids research · 2015Article
- Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.G3 (Bethesda, Md.) · 2015Article
- Converging evidence implicates the abnormal microRNA system in schizophrenia.Schizophrenia bulletin · 2015Article
- Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
In humans, the most common genomic disorder is a hemizygous deletion of a 1.5-3 Mb region of chromosome 22q11.2. The resultant 22q11.2 deletion syndrome (22q11.2DS) can affect multiple organ systems, and most notably includes cardiac, craniofacial, and neurodevelopmental defects. Individuals with 22q11.2DS have a 20-25-fold risk of developing schizophrenia compared to individuals from the general population, making 22q11.2DS the strongest known molecular genetic risk factor for schizophrenia. Although the deleted region includes DGCR8, a gene coding for a miRNA processing protein, the exact mechanism by which this deletion increases risk is unknown. Importantly, several lines of evidence suggest that miRNAs may modulate risk for schizophrenia in other, non-22q11.2DS populations. Here we present a theory which mechanistically explains the link between 22q11.2DS, miRNAs, and schizophrenia risk. We outline the testable predictions generated by this theory and present preliminary data in support of our model. Further experimental validation of this model could provide important insights into the etiology of both 22q11.2DS and more common forms of schizophrenia.
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Registered trials
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