A genome-wide investigation of SNPs and CNVs in schizophrenia
We report a genome-wide assessment of single nucleotide polymorphisms (SNPs) and copy
number variants (CNVs) in schizophrenia. We investigated SNPs using 871 patients and …
number variants (CNVs) in schizophrenia. We investigated SNPs using 871 patients and …
Synaptic scaffold evolution generated components of vertebrate cognitive complexity
J Nithianantharajah, NH Komiyama… - Nature …, 2013 - nature.com
The origins and evolution of higher cognitive functions, including complex forms of learning,
attention and executive functions, are unknown. A potential mechanism driving the evolution …
attention and executive functions, are unknown. A potential mechanism driving the evolution …
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions
Translating a set of disease regions into insight about pathogenic mechanisms requires not
only the ability to identify the key disease genes within them, but also the biological …
only the ability to identify the key disease genes within them, but also the biological …
De novo rates and selection of large copy number variation
A Itsara, H Wu, JD Smith, DA Nickerson… - Genome …, 2010 - genome.cshlp.org
While copy number variation (CNV) is an active area of research, de novo mutation rates
within human populations are not well characterized. By focusing on large (> 100 kbp) …
within human populations are not well characterized. By focusing on large (> 100 kbp) …
MicroRNA expression profiling in the prefrontal cortex of individuals affected with schizophrenia and bipolar disorders
MicroRNAs (miRNAs) are a large family of small non-coding RNAs which negatively control
gene expression at both the mRNA and protein levels. The number of miRNAs identified is …
gene expression at both the mRNA and protein levels. The number of miRNAs identified is …
[PDF][PDF] Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene
Summary Loss-of-function (LOF)(ie, nonsense, splice site, and frameshift) variants that lead
to disruption of gene function are likely to contribute to the etiology of neuropsychiatric …
to disruption of gene function are likely to contribute to the etiology of neuropsychiatric …
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
G Kirov, D Grozeva, N Norton, D Ivanov… - Human molecular …, 2009 - academic.oup.com
We investigated the involvement of rare (< 1%) copy number variants (CNVs) in 471 cases
of schizophrenia and 2792 controls that had been genotyped using the Affymetrix …
of schizophrenia and 2792 controls that had been genotyped using the Affymetrix …
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
We present a database of copy number variations (CNVs) detected in 2026 disease-free
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort …
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort …
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia
Pharmacological, genetic and expression studies implicate N-methyl-D-aspartate (NMDA)
receptor hypofunction in schizophrenia (SCZ). Similarly, several lines of evidence suggest …
receptor hypofunction in schizophrenia (SCZ). Similarly, several lines of evidence suggest …
[PDF][PDF] Age-dependent specific changes in area CA2 of the hippocampus and social memory deficit in a mouse model of the 22q11. 2 deletion syndrome
Several neuropsychiatric disorders are associated with cognitive and social dysfunction.
Postmortem studies of patients with schizophrenia have revealed specific changes in area …
Postmortem studies of patients with schizophrenia have revealed specific changes in area …