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Zhang and colleagues reported the G1463A variant (c.1322G>A) that predicted an amino acid substitution at a highly conserved position in tryptophan hydroxy-lase-2 (TPH2) (p.Arg441His). Functional analysis of 441His showed an w80% loss in serotonin production when expressed in PC12 cells. The authors' genetic data showed the presence of the 1463 A-allele in(More)
CONTEXT Neuregulin 1 (NRG1), a growth factor involved in neurodevelopment, myelination, neurotransmitter receptor expression, and synaptic plasticity, first joined the list of candidate genes for schizophrenia when a 7-marker haplotype at the 5' end of the gene (Hap(ICE)) was shown to be associated with the disorder in the Icelandic population. Since then,(More)
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CONTEXT Tryptophan hydroxylase is the rate-limiting enzyme in the serotonin (5-HT) biosynthetic pathway responsible for the regulation of serotonin levels. Tryptophan hydroxylase 2 (TPH2) was found to be solely expressed in the brain and therefore considered an important susceptibility gene in psychiatric disorders. OBJECTIVE To determine the role of the(More)
Most genetic association studies in bipolar disorder have focussed on genes involved in major neurotransmitter systems or brain development. Functional polymorphisms in the serotonin transporter (5-HTTLPR), catechol-O-methyltransferase (Val158Met) and dopamine D3 receptor (Ser9Gly) genes have all been associated with bipolar disorder. We aimed at(More)
Through active reuptake of serotonin into presynaptic neurons, the serotonin transporter (5-HTT) plays an important role in regulating serotonin concentrations in the brain, and it is the site of binding for tricyclic antidepressants and selective serotonin reuptake inhibitors (SSRIs). Therefore it has been hypothesized that this transporter is involved in(More)
Cancer genomes display characteristic patterns of chromosomal imbalances, often with diagnostic and prognostic relevance. Therefore assays for genome-wide copy number screening and simultaneous detection of copy number alterations in specific chromosomal regions are of increasing importance in the diagnostic work-up of tumors. We tested the performance of(More)
Genomic DNA copy number aberrations are frequent in solid tumors and genomic profiling of a number of different tumor types by array CGH has revealed variety in the numbers and types of copy number alterations in the tumor genomes. Copy number profiles distinguish tumor subtypes, and specific genomic alterations can be associated with other factors such as(More)
OBJECTIVES Dysfunction of the hypothalamus-pituitary-adrenal (HPA) axis is one of the most consistent findings in the pathophysiology of mood disorders. The potential role of genes related to HPA axis function has been investigated extensively in major depression. However, in bipolar disorder (BPD) such studies are scarce. We performed a systematic(More)
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