3D genome organization in the central nervous system, implications for neuropsychological disorders

D Sun, J Weng, Y Dong, Y Jiang - Journal of Genetics and Genomics, 2021 - Elsevier
Chromosomes in eukaryotic cell nuclei are highly compacted and finely organized into
hierarchical three-dimensional (3D) configuration. In recent years, scientists have gained …

Microduplications at the 15q11. 2 BP1–BP2 locus are enriched in patients with anorexia nervosa

X Chang, H Qu, Y Liu, J Glessner, C Hou… - Journal of psychiatric …, 2019 - Elsevier
Abstract Microduplication at 15q11. 2 have been reported in genetic association studies of
schizophrenia and autism. Given the potential overlap in psychiatric symptoms of …

Convergent and distributed effects of the 3q29 deletion on the human neural transcriptome

E Sefik, RH Purcell, EF Walker, GJ Bassell… - Translational …, 2021 - nature.com
Abstract The 3q29 deletion (3q29Del) confers high risk for schizophrenia and other
neurodevelopmental and psychiatric disorders. However, no single gene in this interval is …

Common variants on 2p16. 1, 6p22. 1 and 10q24. 32 are associated with schizophrenia in Han Chinese population

H Yu, H Yan, J Li, Z Li, X Zhang, Y Ma, L Mei… - Molecular …, 2017 - nature.com
Many schizophrenia susceptibility loci have been identified through genome-wide
association studies (GWASs) in European populations. However, until recently …

A 200-kb region of human chromosome 22q11. 2 confers antipsychotic-responsive behavioral abnormalities in mice

N Hiroi, H Zhu, MS Lee, B Funke… - Proceedings of the …, 2005 - National Acad Sciences
Human chromosome 22q11. 2 has been implicated in various behavioral abnormalities,
including schizophrenia and other neuropsychiatric/behavioral disorders. However, the …

[HTML][HTML] Quantifying the effects of 16p11. 2 copy number variants on brain structure: a multisite genetic-first study

S Martin-Brevet, B Rodríguez-Herreros, JA Nielsen… - Biological …, 2018 - Elsevier
Abstract Background 16p11. 2 breakpoint 4 to 5 copy number variants (CNVs) increase the
risk for developing autism spectrum disorder, schizophrenia, and language and cognitive …

Chromosome 13q13–q14 locus overlaps mood and psychotic disorders: the relevance for redefining phenotype

M Maziade, YC Chagnon, MA Roy, A Bureau… - European journal of …, 2009 - nature.com
The nosology of major psychoses is challenged by the findings that schizophrenia (SZ) and
bipolar disorder (BP) share several neurobiological, neuropsychological and clinical …

Evidence for altered hippocampal function in a mouse model of the human 22q11. 2 microdeletion

LJ Drew, KL Stark, K Fénelon, M Karayiorgou… - Molecular and Cellular …, 2011 - Elsevier
22q11. 2 chromosomal deletions are recurrent copy number mutations that increase the risk
of schizophrenia around thirty-fold. Deletion of the orthologous chromosomal region in mice …

Dissecting 16p11. 2 hemi-deletion to study sex-specific striatal phenotypes of neurodevelopmental disorders

J Kim, Y Vanrobaeys, B Kelvington, Z Peterson… - Molecular …, 2024 - nature.com
Neurodevelopmental disorders (NDDs) are polygenic in nature and copy number variants
(CNVs) are ideal candidates to study the nature of this polygenic risk. The disruption of …

1q21. 1 distal copy number variants are associated with cerebral and cognitive alterations in humans

IE Sønderby, D Van der Meer, C Moreau… - Translational …, 2021 - nature.com
Abstract Low-frequency 1q21. 1 distal deletion and duplication copy number variant (CNV)
carriers are predisposed to multiple neurodevelopmental disorders, including …