Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related …
Coordinated programs of gene expression drive brain development. It is unclear which
transcriptional programs, in which cell-types, are affected in neuropsychiatric disorders such …
transcriptional programs, in which cell-types, are affected in neuropsychiatric disorders such …
[HTML][HTML] Integrated pathophysiology of schizophrenia, major depression, and bipolar disorder as monoamine axon disorder
S Nakamura - Frontiers in Bioscience-Scholar, 2022 - imrpress.com
Recent studies provide evidence that similar to early-stage Parkinson's disease, depression
is a neurodegenerative disease characterized by the degeneration of monoamine axons …
is a neurodegenerative disease characterized by the degeneration of monoamine axons …
A comprehensive benchmarking of WGS-based deletion structural variant callers
Advances in whole-genome sequencing (WGS) promise to enable the accurate and
comprehensive structural variant (SV) discovery. Dissecting SVs from WGS data presents a …
comprehensive structural variant (SV) discovery. Dissecting SVs from WGS data presents a …
HERV-W envelope triggers abnormal dopaminergic neuron process through DRD2/PP2A/AKT1/GSK3 for schizophrenia risk
Q Yan, X Wu, P Zhou, Y Zhou, X Li, Z Liu, H Tan, W Yao… - Viruses, 2022 - mdpi.com
An increasing number of studies have begun considering human endogenous retroviruses
(HERVs) as potential pathogenic phenomena. Our previous research suggests that HERV …
(HERVs) as potential pathogenic phenomena. Our previous research suggests that HERV …
Convergent lines of evidence supporting involvement of NFKB1 in schizophrenia
Objectives NFKB1 was associated with treatment-refractory schizophrenia (SZ) and
response to antipsychotics; however, the underlying mechanisms through which NFKB1 …
response to antipsychotics; however, the underlying mechanisms through which NFKB1 …
Regulatory Variant rs2535629 in ITIH3 Intron Confers Schizophrenia Risk By Regulating CTCF Binding and SFMBT1 Expression
Y Li, C Ma, S Li, J Wang, W Li, Y Yang, X Li… - Advanced …, 2022 - Wiley Online Library
Genome‐wide association studies have identified 3p21. 1 as a robust risk locus for
schizophrenia. However, the underlying molecular mechanisms remain elusive. Here a …
schizophrenia. However, the underlying molecular mechanisms remain elusive. Here a …
Actionable genomics in clinical practice: paradigmatic case reports of clinical and therapeutic strategies based upon genetic testing
MG Butler, D Moreno-De-Luca, AM Persico - Genes, 2022 - mdpi.com
In clinical settings, the information provided by genetic testing can explain the triggers and
processes underlying clinical presentations, such as neurodevelopmental disorders, in up to …
processes underlying clinical presentations, such as neurodevelopmental disorders, in up to …
[HTML][HTML] Neuroimaging findings in neurodevelopmental copy number variants: identifying molecular pathways to convergent phenotypes
Genomic copy number variants (CNVs) are associated with a high risk of
neurodevelopmental disorders. A growing body of genetic studies suggests that these high …
neurodevelopmental disorders. A growing body of genetic studies suggests that these high …
[HTML][HTML] Identification of vulnerable interneuron subtypes in 15q13. 3 microdeletion syndrome using single-cell transcriptomics
S Malwade, J Gasthaus, C Bellardita, M Andelic… - Biological …, 2022 - Elsevier
Background A number of rare copy number variants (CNVs) have been linked to
neurodevelopmental disorders. However, because CNVs encompass many genes, it is often …
neurodevelopmental disorders. However, because CNVs encompass many genes, it is often …
Schizophrenia risk mediated by microRNA target genes overlapped by genome-wide rare copy number variation in 22q11. 2 deletion syndrome
The 22q11. 2 deletion is associated with> 20-fold increased risk for schizophrenia. The
presence of gene DGCR8 in the 22q11. 2 deletion region has suggested microRNA …
presence of gene DGCR8 in the 22q11. 2 deletion region has suggested microRNA …