Abstract:
:A limited number of rare missense mutations in exons 16 and 17 of the amyloid precursor protein (APP) gene have been reported. They are associated with a variety of phenotypes including cerebral haemorrhage, multi-infarct dementia and Alzheimer's disease. We recently reported an alanine to valine mutation in codon 713 in a single case of chronic familial schizophrenia with cognitive deficits. Using denaturing gradient gel electrophoresis (DGGE) we have screened a cohort of 250 chronic schizophrenics for further mutations of exons 7, 16 and 17. None were found. Nevertheless recent evidence suggests that the 713 mutation is indeed pathogenic for the clinical phenotype observed; the mechanisms involved are outlined.
journal_name
Psychiatr Genetjournal_title
Psychiatric geneticsauthors
Morris S,Leung J,Sharp C,Blackwood D,Muir W,St Clair Ddoi
10.1097/00041444-199421000-00004subject
Has Abstractpub_date
1994-04-01 00:00:00pages
23-7issue
1eissn
0955-8829issn
1473-5873journal_volume
4pub_type
杂志文章abstract::Numerous family, twin and adoption studies have reported a strong genetic component for attention deficit hyperactivity disorder (ADHD). In addition, an extensive amount of literature has implicated abnormalities of the dopaminergic system. In view of this evidence, genes that influence dopaminergic transmission have ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000107932.32051.1c
更新日期:2004-06-01 00:00:00
abstract:OBJECTIVE:The National Institute of Mental Health's effort to rectify the underrepresentation of American Blacks in the genetic studies of psychiatric disorders has met with mixed success. This study was designed to understand some of the barriers to recruitment. METHODS:Men and women, who were of Black, White or Hisp...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/ypg.0b013e32832cec89
更新日期:2009-08-01 00:00:00
abstract::The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-G...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000195
更新日期:2018-06-01 00:00:00
abstract:OBJECTIVE:Epidemiological and clinical studies suggest that the rates of antisocial behavior, depression, and impulsive substance use are increased among individuals diagnosed with alcohol dependence relative to those who are not. Thus, the present study conducted genome-wide linkage scans of antisocial behavior, depre...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e328353fb77
更新日期:2012-10-01 00:00:00
abstract:OBJECTIVE:The dopamine D4 receptor (DRD4) is a candidate gene for increasing genetic susceptibility to schizophrenia. A recent study found that a -521C>T promoter base pair change affects transcriptional regulation of the DRD4 gene. The present study was designed to investigate the role of both the -521C>T single nucle...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000199446.54420.ff
更新日期:2006-08-01 00:00:00
abstract::The 11th Annual Molecular Psychiatry Meeting was held from 8 to 10 February 2004, at the Treasure Mountain Inn in Park City, Utah. The meeting was hosted by Bill Byerley, University of California, Irvine. ...
journal_title:Psychiatric genetics
pub_type:
doi:10.1097/00041444-200506000-00002
更新日期:2005-06-01 00:00:00
abstract::Catechol-O-methyltransferase (COMT) metabolizes catecholamines such as dopamines, noradrenaline and adrenaline. It exists as common high and low activity alleles in the population (determined by a valine 158 methionine polymorphisms), and high red blood cell activity of COMT has previously been associated with schizop...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199723000-00001
更新日期:1997-10-01 00:00:00
abstract:OBJECTIVE:Novelty seeking is a trait that has been consistently associated with problem behaviours. There is evidence for heritability of novelty seeking, but the molecular genetic basis of the trait is still widely unclear. METHODS:The interaction between polymorphisms of catechol-O-methyltransferase (COMT) and serot...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833a212f
更新日期:2010-12-01 00:00:00
abstract:BACKGROUND:Abnormal expressions of the N-methyl-D-aspartate receptor and its interacting postsynaptic density (PSD) molecules have been hypothesized to be involved in the pathophysiology of schizophrenia. Few studies have carried out association studies with DLG4 gene (coding PSD-95 protein) and sought to validate the ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e3283643671
更新日期:2013-12-01 00:00:00
abstract:OBJECTIVE:Autism spectrum disorders (ASD) often show obsessive repetitive symptoms that are characteristic to obsessive-compulsive disorder (OCD). Aberrant glutamate function has been suggested to a risk for both ASDs and OCD. Considering the common metabolic pathway and recent results from association studies both in ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833a2080
更新日期:2010-06-01 00:00:00
abstract::In an epidemiologic sample of female-female twin pairs, we previously reported analyses of lifetime major depression. Because lifetime mania was not assessed, we could not differentiate unipolar from bipolar illness. Having completed such an evaluation in this sample, we now examine three questions: (i) does removing ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
abstract::The candidate genes tyrosine hydroxylase (TH) and the dopamine D4 receptor gene (DRD4) are both located in the 11p15.5 region, thus creating strong interest in this region for genetic studies of bipolar affective disorder. It is conceivable that disregulation of the dopamine system could arise from genetic defects in ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199422000-00006
更新日期:1994-07-01 00:00:00
abstract::Several lines of biochemical evidence support a role of alpha2-macroglobulin (A2M) in the pathogenesis of Alzheimer's dementia (AD). A2M participates in the general defence mechanism against proteinases and it is supposed to be involved in the degradation of beta-amyloid peptide (betaAP). Furthermore, A2M has been sho...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200203000-00007
更新日期:2002-03-01 00:00:00
abstract::Since the function and metabolism of peripheral lymphocytes is known to be altered in Alzheimer's disease (AD), a pilot study was carried out to examine differences in gene expression profiles of these cells in 16 AD patients and aged control probands. Using a cDNA microarray representing 3200 distinct human genes, we...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200503000-00001
更新日期:2005-03-01 00:00:00
abstract::3q29 deletion syndrome is caused by a heterozygous 1.6 Mb deletion on chromosome 3, which occurs in about 1 in 30 000 births. Phenotypic features of this syndrome include mild-to-moderate intellectual disability, autism spectrum disorder, slightly dysmorphic facial features, ataxic gait, and chest-wall deformity. Gast...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000256
更新日期:2020-08-01 00:00:00
abstract::Since Lesch and colleagues reported an association between anxiety-related traits (Neuroticism) and a functional polymorphism in the serotonin transporter gene regulatory region (5-HTTLPR), there have been several reports on 5-HTTLPR and personality traits with both positive and negative results. The present study was...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200010040-00002
更新日期:2000-12-01 00:00:00
abstract:BACKGROUND:Genetic, environmental, and cognitive factors play a role in the development and recurrence of depression. More specifically, cognitive biases have been associated with depression risk genes and life events. Recently, the mineralocorticoid receptor NR3C2 gene, and in particular the rs5534 polymorphism, has b...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000081
更新日期:2015-06-01 00:00:00
abstract:BACKGROUND:Recent research has shown that loneliness, a common problem in adolescence, may have a genetic basis. The evidence, though, was limited mostly to serotonin-related and dopamine-related genes. In the present study, we focused on the oxytocin receptor gene (OXTR). METHODS:Associations were examined in a longi...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e328363f631
更新日期:2013-10-01 00:00:00
abstract:BACKGROUND:Copy number variants (CNVs) are genetic rearrangements, such as deletions and duplications, which result in a deviation from the normal number of copies of a given gene segment. CNVs are implicated in many neuropsychiatric disorders. Deletions of the human chromosomal region 16p11.2 are one of the most commo...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000259
更新日期:2020-10-01 00:00:00
abstract:OBJECTIVES:Susceptibility to heroin dependence is strongly influenced by genetic factors with heritability estimates as high as 0.7. A number of genes, as well as environmental factors, are likely to contribute to its etiology. Not all individuals who have ever tried heroin at some stage during their lifetime become de...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0000000000000208
更新日期:2019-02-01 00:00:00
abstract::We report here linkage data on two families with multiple cases of schizophrenia originating from the genetically isolated population of Finland. We analyzed chromosomal DNA regions containing relevant candidate genes for schizophrenia and chromosomal regions which have been among the most widely studied in schizophre...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199400430-00004
更新日期:1994-10-01 00:00:00
abstract::The brain-derived neurotrophic factor (BDNF) is a secretory growth factor that promotes neuronal proliferation and survival, synaptic plasticity and long-term potentiation in the central nervous system. Brain-derived neurotrophic factor biosynthesis and secretion are chrono-topically regulated processes at the cellula...
journal_title:Psychiatric genetics
pub_type: 杂志文章,评审
doi:10.1097/YPG.0000000000000237
更新日期:2019-10-01 00:00:00
abstract::Disturbed glutamatergic neurotransmission has been implicated in the pathogenesis of schizophrenia and bipolar disorder, with the N-methy-D-aspartate receptors being in the focus of research. The NR1 subunit, which is encoded by the gene GRIN1, plays a key role in the functionality of N-methy-D-aspartate receptors. We...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000242194.36150.2b
更新日期:2006-10-01 00:00:00
abstract::Genetic factors play a role in the vulnerability to cocaine dependence. The reinforcing properties of cocaine are related to the dopaminergic system, and, in particular, the dopamine receptors have been linked to the reward mechanisms. The present study examines the role of the variants TaqI A of the dopamine D2 recep...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200509000-00006
更新日期:2005-09-01 00:00:00
abstract:BACKGROUND:Even though bupropion is first-line pharmacological agent for smoking cessation, not all the smokers successfully quit smoking by bupropion. It means other factors like genetic predisposition could contribute to the therapeutic outcome. OBJECTIVES:The aim of this study is to elucidate the question of whethe...
journal_title:Psychiatric genetics
pub_type: 临床试验,杂志文章
doi:10.1097/YPG.0b013e3282df0939
更新日期:2008-02-01 00:00:00
abstract::The purpose of the present study was to investigate the association between the monocyte chemoattractant protein-1 (MCP-1) promoter -2518 polymorphism and schizophrenia. One hundred and twenty-three schizophrenic inpatients and 114 healthy controls participated in this study. Genotyping was performed by polymerase cha...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/01.ypg.0000128764.07344.06
更新日期:2004-06-01 00:00:00
abstract::The frequencies of HLA class I (HLA-A, B, C) and class II (HLA-DR, DQ) antigens were measured in 107 unrelated schizophrenic subjects and the results compared with 264 controls from south-east Scotland and a second control group of 133 individuals from north-east England. The expression of HLA-B35 was significantly re...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-199622000-00004
更新日期:1996-07-01 00:00:00
abstract::It is well established that approximately 50% of the variance in personality traits is genetic. The goal of this study was to investigate a relationship between personality traits and the T-182C polymorphism in the norepinephrine transporter gene. The participants included 115 healthy adults with no history of psychia...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200506000-00012
更新日期:2005-06-01 00:00:00
abstract::Several studies suggest increased activity of phospholipase A2 in schizophrenic patients. In the present study, variants of four genes coding for phospholipase A2 enzyme groups (sPLA2, cPLA2, iPLA2 and PAFAH) were analysed in a case-control sample using 240 schizophrenic patients and 312 healthy controls. No differenc...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/00041444-200409000-00007
更新日期:2004-09-01 00:00:00
abstract:OBJECTIVES:Research implicates the A1 allele of the dopamine D2 receptor gene (DRD2) Taq1A polymorphism in the development of depression and anxiety. Furthermore, recent papers suggest that children with A1 allele of this gene may receive less positive parenting, and that the effects of this gene on child symptoms may ...
journal_title:Psychiatric genetics
pub_type: 杂志文章
doi:10.1097/YPG.0b013e32833adccb
更新日期:2010-12-01 00:00:00