ReviewInternational journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience2011
Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes.
Review in International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- The genetic architecture of the human cerebral cortex.Science (New York, N.Y.) · 2020Pooled it
- Brain and behavioural anomalies caused byLife science alliance · 2025Article
- The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.Nature communications · 2022Article
- Synaptic Plasticity Dysfunctions in the Pathophysiology of 22q11 Deletion Syndrome: Is There a Role for Astrocytes?International journal of molecular sciences · 2022Review
- Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome.Translational psychiatry · 2022Article
- Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers.Translational psychiatry · 2021Article
- Article
- The Role of Alpha-Synuclein and Other Parkinson's Genes in Neurodevelopmental and Neurodegenerative Disorders.International journal of molecular sciences · 2020Review
- Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method.BioMed research international · 2020Article
- Coordination of Neuron Production in Mouse and Human Cerebral Cortex by the Homolog of Drosophila Mastermind Protein.Brain, behavior and evolution · 2019Article
- Molecular genetics of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- Longitudinal study of cerebral surface morphology in youth with 22q11.2 deletion syndrome, and association with positive symptoms of psychosis.Journal of child psychology and psychiatry, and allied disciplines · 2017Article
- Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?Frontiers in genetics · 2017Article
- Warburg effect linked to cognitive-executive deficits in FMR1 premutation.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Article
- Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.Molecular syndromology · 2016Review
- White Matter Microstructural Integrity and Neurobehavioral Outcome of HIV-Exposed Uninfected Neonates.Medicine · 2016Observational
- Neurodevelopmental Genomic Strategies in the Study of the Psychosis Spectrum.Nebraska Symposium on Motivation. Nebraska Symposium on Motivation · 2016Article
- Altered Brain Structure-Function Relationships Underlie Executive Dysfunction in 22q11.2 Deletion Syndrome.Molecular neuropsychiatry · 2015Article
- 22q11.2 deletion syndrome.Nature reviews. Disease primers · 2015Review
- ERK2 mediates inner hair cell survival and decreases susceptibility to noise-induced hearing loss.Scientific reports · 2015Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
DiGeorge, or 22q11 deletion syndrome (22q11DS), the most common survivable human genetic deletion disorder, is caused by deletion of a minimum of 32 contiguous genes on human chromosome 22, and presumably results from diminished dosage of one, some, or all of these genes--particularly during development. Nevertheless, the normal functions of 22q11 genes in the embryo or neonate, and their contribution to developmental pathogenesis that must underlie 22q11DS are not well understood. Our data suggests that a substantial number of 22q11 genes act specifically and in concert to mediate early morphogenetic interactions and subsequent cellular differentiation at phenotypically compromised sites--the limbs, heart, face and forebrain. When dosage of a broad set of these genes is diminished, early morphogenesis is altered, and initial 22q11DS phenotypes are established. Thereafter, functionally similar subsets of 22q11 genes--especially those that influence the cell cycle or mitochondrial function--remain expressed, particularly in the developing cerebral cortex, to regulate neurogenesis and synaptic development. When dosage of these genes is diminished, numbers, placement and connectivity of neurons and circuits essential for normal behavior may be disrupted. Such disruptions likely contribute to vulnerability for schizophrenia, autism, or attention deficit/hyperactivity disorder seen in most 22q11DS patients.
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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.