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Genes influenced by MEF2C contribute to neurodevelopmental disease via gene expression changes that affect multiple types of cortical excitatory neurons
(Oxford University Press (OUP), 2020-09-25)
Myocyte enhancer factor 2 C (MEF2C) is an important transcription factor during neurodevelopment. Mutation or deletion of MEF2C causes intellectual disability (ID) and common variants within MEF2C are associated with ...
Altered gene regulation as a candidate mechanism by which ciliopathy gene SDCCAG8 contributes to schizophrenia and cognitive function
(Oxford University Press (OUP), 2019-12-23)
Mutations in genes that encode centrosomal/ciliary proteins cause severe cognitive deficits, while common single-nucleotide polymorphisms in these genes are associated with schizophrenia (SZ) and cognition in genome-wide ...
Cognitive analysis of schizophrenia risk genes that function as epigenetic regulators of gene expression
(Wiley, 2016-10-20)
Epigenetic mechanisms are an important heritable and dynamic means of regulating various genomic functions, including gene expression, to orchestrate brain development, adult neurogenesis, and synaptic plasticity. These ...
Population‐based identity‐by‐descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
(Wiley, 2019-02-23)
Genome‐wide association studies (GWASs) are highly effective at identifying common risk variants for schizophrenia. Rare risk variants are also important contributors to schizophrenia etiology but, with the exception of ...
Genes regulated by BCL11B during T‐cell development are enriched for de novo mutations found in schizophrenia patients
(Wiley, 2020-07-29)
While abnormal neurodevelopment contributes to schizophrenia (SCZ) risk, there is also evidence to support a role for immune dysfunction in SCZ.BCL11B, associated with SCZ in genome-wide association study (GWAS), is a ...
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders
(Springer Nature, 2013-10-15)
Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes ...
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis
(Oxford University Press (OUP), 2014-01-28)
Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in ...