ReviewSchizophrenia bulletin2011
Molecular mechanisms in 22q11 deletion syndrome.
Review in Schizophrenia bulletin, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 33 citations in OpenAlex.
- Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.Orphanet journal of rare diseases · 2023Article
- Neurological consequences of neurovascular unit and brain vasculature damages: potential risks for pregnancy infections and COVID-19-babies.The FEBS journal · 2022Review
- The blood-brain and gut-vascular barriers: from the perspective of claudins.Tissue barriers · 2021Review
- Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.Human genetics · 2019Article
- Dose-dependent expression of claudin-5 is a modifying factor in schizophrenia.Molecular psychiatry · 2018Article
- Genetic studies of schizophrenia: an update.Neuroscience bulletin · 2015Review
- Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities.Molecular cytogenetics · 2015Article
- Autism-Like Behavior and Epigenetic Changes Associated with Autism as Consequences of In Utero Exposure to Environmental Pollutants in a Mouse Model.Behavioural neurology · 2015Article
- microRNAs as novel biomarkers of schizophrenia (Review).Experimental and therapeutic medicine · 2014Article
- Investigation of the involvement of MIR185 and its target genes in the development of schizophrenia.Journal of psychiatry & neuroscience : JPN · 2014Article
- Psychopathology and cognition in children with 22q11.2 deletion syndrome.The British journal of psychiatry : the journal of mental science · 2014Article
- Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Molecular cytogenetics · 2014Article
- Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.American journal of human genetics · 2013Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It is now well recognized that as well as having a characteristic facial dysmorphology and a range of congenital abnormalities, individuals with chromosome 22q11 deletion syndrome (22q11DS) have a greatly increased risk of developing psychosis, in particular schizophrenia. The majority of deletions span a large 3Mb region at 22q11. However, the presence of affected individuals carrying smaller deletions have not been sufficient to satisfactorily reduce the critical region for the behavioral phenotype beyond a ~1.5Mb region that contains at least 28 genes. By having a shared genetic variant that greatly increases risk to psychosis, individuals with 22q11DS are a relatively homogeneous population to study psychiatric disease. Despite this, the large volume of research performed over the last 15 years suggest that the mechanism by which haploinsufficiency at 22q11 increases risk to psychiatric illness is likely to be complex and it remains uncertain why individuals carrying identical 22q11 deletions can present with such a wide range of neuropsychiatric phenotypes. This review will therefore consider the ways in which deletions at 22q11 are expected to increase risk to develop psychiatric disease by summarizing the work that has been done to investigate three of the most likely disease causing mechanisms: (a) gene dosage sensitivity; (b) unmasking of recessive alleles or functional polymorphism; and (c) position effect.
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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.