[PDF][PDF] 22q11. 2 Deletion syndrome as a neural model for Schizophrenia

AA Francisco - Biological Psychiatry, 2022 - Elsevier
Schizophrenia is a severe condition characterized by differences in perception, thought,
emotions, and behavior. It is an incapacitating disease, with tremendous human cost: Those …

Whole-genome sequencing suggests schizophrenia risk mechanisms in humans with 22q11. 2 deletion syndrome

D Merico, M Zarrei, G Costain, L Ogura… - G3: Genes …, 2015 - academic.oup.com
Abstract Chromosome 22q11. 2 microdeletions impart a high but incomplete risk for
schizophrenia. Possible mechanisms include genome-wide effects of DGCR8 …

From Gene to Brain and Behavior: Excitatory and Inhibitory Imbalance and Psychosis in Individuals With 22q11. 2 Deletion Syndrome

M Rogdaki - Biological Psychiatry, 2023 - biologicalpsychiatryjournal.com
Schizophrenia is a debilitating and complex neurodevelopmental disorder. Over the last 2
decades, our understanding of the genetic architecture of schizophrenia has significantly …

Genome‐wide significant linkage of schizophrenia‐related neuroanatomical trait to 12q24

E Sprooten, CN Gupta, EEM Knowles… - American Journal of …, 2015 - Wiley Online Library
The insula and medial prefrontal cortex (mPFC) share functional, histological,
transcriptional, and developmental characteristics, and they serve higher cognitive functions …

[PDF][PDF] Study of the genetic association between selected 3q29 region genes and schizophrenia and autism spectrum disorder in the Japanese population

G Otgonbayar, T Lo, Y Hayashi, S Furuta… - Nagoya J. Med …, 2024 - med.nagoya-u.ac.jp
Psychiatric disorders are highly inheritable, and most psychiatric disorders exhibit genetic
overlap. Recent studies associated the 3q29 recurrent deletion with schizophrenia (SCZ) …

Chromosome 22q11. 2 deletion causes PERK-dependent vulnerability in dopaminergic neurons

Y Arioka, E Shishido, I Kushima, T Suzuki, R Saito… - …, 2021 - thelancet.com
Abstract Background The chromosome 22q11. 2 deletion is an extremely high risk genetic
factor for various neuropsychiatric disorders; however, the 22q11. 2 deletion-related brain …

P481. Neuronal Hyperexcitability in a Human iPS Cell Model of 22q11. 2 Deletion Syndrome

J Guo, W Niu, B Cuthbert… - Biological …, 2022 - biologicalpsychiatryjournal.com
Background The 22q11. 2 deletion syndrome (22q11DS) is the most common chromosomal
interstitial-deletion disorder in humans, occurring in approximately 1 in 4000 live births. 20 …

Downregulation of genes outside the deleted region in individuals with 22q11. 2 deletion syndrome

AG Dantas, ML Santoro, N Nunes, CB de Mello… - Human genetics, 2019 - Springer
Abstract The 22q11. 2 deletion syndrome (22q11. 2DS) is caused by recurrent hemizygous
deletions of chromosome 22q11. 2. The phenotype of the syndrome is complex and varies …

[HTML][HTML] Recent positive selection drives the expansion of a schizophrenia-associated variant within 10q24. 33 in human populations through its pleiotropic effects on …

L Li, H Chang, T Huang, Y Zheng, L Qi… - Journal of Psychiatry …, 2017 - hapres.com
Background: Genome-wide scans have revealed that Darwinian natural selection affects
human genome during human evolution, helping us to optimize complex human …

A rare duplication on chromosome 16p11. 2 is identified in patients with psychosis in Alzheimer's disease

X Zheng, FY Demirci, MM Barmada, GA Richardson… - PLoS …, 2014 - journals.plos.org
Epidemiological and genetic studies suggest that schizophrenia and autism may share
genetic links. Besides common single nucleotide polymorphisms, recent data suggest that …