[引用][C] T124. Proteomic Profiling of the 16p11. 2 Microduplication Mouse Model: Implications for Neuropsychiatric Disease

M Forrest, YZ Wang, N Piguel… - Biological …, 2019 - biologicalpsychiatryjournal.com
Background The 16p11. 2 microduplication is a rare form of chromosomal rearrangement
that confers risk of multiple neuropsychiatric conditions including, schizophrenia, autism …

Association of copy number variation of the 15q11. 2 BP1-BP2 region with cortical and subcortical morphology and cognition

D Van Der Meer, IE Sønderby, T Kaufmann… - JAMA …, 2020 - jamanetwork.com
Importance Recurrent microdeletions and duplications in the genomic region 15q11. 2
between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental …

[PDF][PDF] Spatiotemporal 16p11. 2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases

GN Lin, R Corominas, I Lemmens, X Yang, J Tavernier… - Neuron, 2015 - cell.com
The psychiatric disorders autism and schizophrenia have a strong genetic component, and
copy number variants (CNVs) are firmly implicated. Recurrent deletions and duplications of …

Direct induction of human neurons from fibroblasts carrying the neuropsychiatric 22q11. 2 microdeletion reveals transcriptome-and epigenome-wide alterations

C Purmann, CE Ang, K Tanabe, Y Zhang, S Kundu… - bioRxiv, 2021 - biorxiv.org
Standard methods for the creation of neuronal cells via direct induction from primary tissue
use perinatal fibroblasts, which hinders the important study of patient specific genetic lesions …

Mapping 22q11. 2 gene dosage effects on brain morphometry

A Lin, CRK Ching, A Vajdi, D Sun… - Journal of …, 2017 - Soc Neuroscience
Reciprocal chromosomal rearrangements at the 22q11. 2 locus are associated with elevated
risk of neurodevelopmental disorders. The 22q11. 2 deletion confers the highest known …

Rare genome-wide copy number variation and expression of schizophrenia in 22q11. 2 deletion syndrome

AS Bassett, C Lowther, D Merico… - American Journal of …, 2017 - Am Psychiatric Assoc
Objective: Chromosome 22q11. 2 deletion syndrome (22q11. 2DS) is associated with a
more than 20-fold increased risk for developing schizophrenia. The aim of this study was to …

[PDF][PDF] Genetic analysis of psychiatric disorders associated with human chromosome 18

D Kamnasaran - Clinical and investigative medicine, 2003 - epe.lac-bac.gc.ca
Current models on the etiology of psychiatric disorders support the idea of a biologic cause
as well as interactions of biologic systems with the environment. The elucidation of the …

Dopaminergic neurons in chromosome 22q11. 2 deletion syndrome

H Inoue - EBioMedicine, 2021 - thelancet.com
Chromosome 22q11. 2 Deletion Syndrome (22q11DS) is a disease caused by
microdeletions in the chromosome 22q11. 2 region, the most common interstitial deletion in …

The Hunt for the Chromosome 22q11. 2 Deletion Syndrome Schizophrenia Genes

JR Vermeesch - Biological Psychiatry, 2022 - biologicalpsychiatryjournal.com
With an incidence of 1 in 3000 live births, 22q11. 2 deletion syndrome (22q11. 2DS) is the
most common chromosomal microdeletion disorder in humans. The phenotype is …

Molecular Dissection of the Neurodevelopmental Risk Locus 22q11. 2 in Zebrafish Reveals Multiple Genes With Effect on Behavior

P Campbell, M Granato - Biological Psychiatry, 2021 - biologicalpsychiatryjournal.com
Background As schizophrenia is highly heritable, genetic risk factors remain an attractive
avenue for furthering our understanding of its pathophysiology. Deletion of a region of …