[HTML][HTML] Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations

E Rees, HDJ Creeth, HG Hwu, WJ Chen… - Nature …, 2021 - nature.com
People with schizophrenia are enriched for rare coding variants in genes associated with
neurodevelopmental disorders, particularly autism spectrum disorders and intellectual …

Identification and prioritization of gene sets associated with schizophrenia risk by co-expression network analysis in human brain

E Radulescu, AE Jaffe, RE Straub, Q Chen… - Molecular …, 2020 - nature.com
Schizophrenia polygenic risk is plausibly manifested by complex transcriptional
dysregulation in the brain, involving networks of co-expressed and functionally related …

[HTML][HTML] Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

BH Laabs, C Klein, J Pozojevic, A Domingo… - Nature …, 2021 - nature.com
X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder
retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for~ 50 …

[HTML][HTML] Cannabinoid receptor CNR1 expression and DNA methylation in human prefrontal cortex, hippocampus and caudate in brain development and …

R Tao, C Li, AE Jaffe, JH Shin, A Deep-Soboslay… - Translational …, 2020 - nature.com
Beyond being one the most widely used psychoactive drugs in the world, cannabis has
been identified as an environmental risk factor for psychosis. Though the relationship …

eQTL Catalogue: a compendium of uniformly processed human gene expression and splicing QTLs

N Kerimov, JD Hayhurst, K Peikova, JR Manning… - BioRxiv, 2020 - biorxiv.org
An increasing number of gene expression quantitative trait locus (eQTL) studies have made
summary statistics publicly available, which can be used to gain insight into complex human …

Largest GWAS (N= 1,126,563) of Alzheimer's disease implicates microglia and immune cells

DP Wightman, IE Jansen, JE Savage, AA Shadrin… - MedRxiv, 2020 - medrxiv.org
Late-onset Alzheimer's disease is a prevalent age-related polygenic disease that accounts
for 50-70% of dementia cases. Late-onset Alzheimer's disease is caused by a combination …

Interferon-γ signaling in human iPSC–derived neurons recapitulates neurodevelopmental disorder phenotypes

K Warre-Cornish, L Perfect, R Nagy, RRR Duarte… - Science …, 2020 - science.org
Maternal immune activation increases the risk of neurodevelopmental disorders. Elevated
cytokines, such as interferon-γ (IFN-γ), in offspring's brains play a central role. IFN-γ …

[HTML][HTML] Macrophages with reduced expressions of classical M1 and M2 surface markers in human bronchoalveolar lavage fluid exhibit pro-inflammatory gene …

H Takiguchi, CX Yang, CWT Yang, B Sahin… - Scientific Reports, 2021 - nature.com
The classical M1/M2 polarity of macrophages may not be applicable to inflammatory lung
diseases including chronic obstructive pulmonary disease (COPD) due to the complex …

Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders

Z Hu, X Xiao, Z Zhang, M Li - Molecular psychiatry, 2019 - nature.com
Many neuropsychiatric and neurodevelopmental disorders commonly share genetic risk
factors. To date, the mechanisms driving the pathogenesis of these disorders, particularly …

[HTML][HTML] Cell type-specific epigenetic links to schizophrenia risk in the brain

I Mendizabal, S Berto, N Usui, K Toriumi, P Chatterjee… - Genome biology, 2019 - Springer
Background The importance of cell type-specific epigenetic variation of non-coding regions
in neuropsychiatric disorders is increasingly appreciated, yet data from disease brains are …