High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome.

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

authors： Junqueira R,Cordeiro Q,Meira-Lima I,Gattaz WF,Vallada H

更新日期：2004-09-01 00:00:00

abstract：:A number of studies have observed associations between the serotonin 2A (5-HT2A) receptor and mental disorders. Here, we investigated correlations between polymorphisms (-1438G/A and 102T/C) of the 5-HT2A gene and personality traits in healthy Japanese volunteers (n = 239). The personality traits were evaluated using ...

journal_title：Psychiatric genetics

authors： Tochigi M,Umekage T,Kato C,Marui T,Otowa T,Hibino H,Otani T,Kohda K,Kato N,Sasaki T

更新日期：2005-03-01 00:00:00

abstract：:Recent reports on susceptibility loci for manic depression have sparked lively debate. The pros and cons of these findings are discussed from a methodological vantage point, with implications for linkage studies generally. ...

journal_title：Psychiatric genetics

authors： Baron M

更新日期：1997-04-01 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

authors： van Roekel E,Verhagen M,Engels RC,Goossens L,Scholte RH

更新日期：2013-10-01 00:00:00

abstract：:The 5-HT2C (serotonin-2C, HTR2C) receptor is implicated in the pathophysiology of eating disorders. There is a common polymorphism of the human 5-HT2C receptor at codon 23 (cys23ser) which has been reported to be a risk factor for certain psychiatric disorders and a predictor of their pharmacotherapeutic response. We ...

journal_title：Psychiatric genetics

authors： Burnet PW,Smith KA,Cowen PJ,Fairburn CG,Harrison PJ

更新日期：1999-06-01 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

authors： Di Carlo P,Punzi G,Ursini G

更新日期：2019-10-01 00:00:00

abstract：:A number of human hereditary neuromuscular and neurodegenerative disorders are caused by the expansion of trinucleotide repeats within certain genes. The molecular mechanisms that underlie these expansions are not yet known. We have analyzed six trinucleotide repeat-containing loci [spinocerebellar ataxias (SCA1, SCA3...

journal_title：Psychiatric genetics

authors： Savić D,Topisirović I,Keckarević M,Keckarević D,Major T,Culjković B,Stojković O,Rakocević-Stojanović V,Mladenović J,Todorović S,Apostolski S,Romac S

更新日期：2001-12-01 00:00:00

abstract：:The presence of genetic substructure has the potential to diminish the chances of detecting a linkage signal. Using a Markov chain Monte Carlo procedure developed by Pritchard and colleagues and implemented in the program STRUCTURE, we evaluated the evidence for genetic substructure using genotypes from 37 microsatell...

journal_title：Psychiatric genetics

authors： Sullivan PF,Walsh D,O'Neill FA,Kendler KS

更新日期：2004-12-01 00:00:00

abstract：INTRODUCTION:The importance of dopamine D2 receptors (DRD2) for central nervous dopaminergic signalling makes variants in the DRD2 gene potential modulators of the risk or course of various behavioural, psychiatric or neurologic diseases (e.g. addiction, schizophrenia, Parkinson's disease). We developed Pyrosequencing ...

journal_title：Psychiatric genetics

authors： Doehring A,Kirchhof A,Lötsch J

更新日期：2009-10-01 00:00:00

abstract：:Introduction Schizophrenia is recognized as one of the most important mental illnesses of the last century. Many genetic and environmental factors are involved in this condition. Recently, the genome-wide association study identified two significant genes LRP8 and CEP85L associated with psychiatric disorders. LRP8 (lo...

journal_title：Psychiatric genetics

authors： Poursaei E,Daneshmandpour Y,Aghaei Moghadam E,Abolghasemi M,Jamshidi J,Baradaran B,Asadi M,Kazeminasab S,Emamalizadeh B

更新日期：2020-12-01 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

authors： Du L,Bakish D,Hrdina PD

更新日期：2000-12-01 00:00:00

abstract：:A 50-year-old man presented with worsening, virtually lifelong, chorea and progressive behavioural disturbance, involving disinhibition and hoarding, over 10 years. Clinical assessment revealed chorea, dysarthria, areflexia, an inappropriately jovial, impulsive manner and neuropsychological evidence of frontosubcortic...

journal_title：Psychiatric genetics

authors： Zeman A,Daniels G,Tilley L,Dunn M,Toplis L,Bullock T,Poole J,Blackwood D

更新日期：2005-12-01 00:00:00

abstract：BACKGROUND:FRAXE is a second locus associated with X chromosome fragility. Similar to FRAXA, the common mutation is a GCC expansion located in the 5' untranslated region, leading to the hypermethylation of the region and to the subsequent inactivation of specific genes (FMR1 and FMR2, respectively). Unlike FRAXA, FRAXE...

journal_title：Psychiatric genetics

authors： Lesca G,Biancalana V,Brunel MJ,Quack B,Calender A,Lespinasse J

更新日期：2003-03-01 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

authors： Li XW,Liu BC,Wang Y,Zhao QZ,Shen Q,Yu T,Chen SQ,Yang FP,Li WD,Gao LH,Xu YF,Feng GY,He L,He G

更新日期：2013-12-01 00:00:00

abstract：:Chromosome 12q is a region of interest for the genetics of bipolar affective disorder because of reports of apparent cosegregation between this disorder and Darier's disease in a small number of families. Findings from a recent linkage study suggest that this chromosomal region may contain a susceptibility gene for bi...

journal_title：Psychiatric genetics

authors： Dawson E,Gill M,Curtis D,Castle D,Hunt N,Murray R,Powell J

更新日期：1995-01-01 00:00:00

abstract：OBJECTIVES:The NOTCH4 gene has a promoter polymor-phism at position -25, which leads to the three genotypes TT, CT and CC. These have been suggested to present a novel independent genetic risk factor for schizophrenia. We conducted a prospective case-control study to explore the impact of NOTCH4 T-25C polymorphism on t...

journal_title：Psychiatric genetics

authors： Anttila S,Kampman O,Illi A,Roivas M,Mattila KM,Lassila V,Lehtimäki T,Leinonen E

更新日期：2003-06-01 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

authors： Janka Z,Juhász A,Rimanóczy A,Boda K,Márki-Zay J,Palotás M,Kuk I,Zöllei M,Jakab K,Kálmán J

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

authors： Kálmán J,Kitajka K,Pákáski M,Zvara A,Juhász A,Vincze G,Janka Z,Puskás LG

更新日期：2005-03-01 00:00:00

abstract：BACKGROUND:A long-term controversy exists on whether or not major psychotic disorders can be discretely divided into two groups, for example, schizophrenia and bipolar disorder. Many genes and polymorphisms have been studied for a role in both disorders, including the Val66Met (also known as rs 6265 or G196A) variant o...

journal_title：Psychiatric genetics

authors： Kanazawa T,Glatt SJ,Kia-Keating B,Yoneda H,Tsuang MT

更新日期：2007-06-01 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

authors： Vrijsen JN,Vogel S,Arias-Vásquez A,Franke B,Fernández G,Becker ES,Speckens A,van Oostrom I

更新日期：2015-06-01 00:00:00

abstract：:The FKBP5 protein is of importance for the function of the glucocorticoid receptor. The purpose of the present study was to examine the possible association between the different genotypes of rs1360780 in the FKBP5 gene, and clinical symptoms in patients with unipolar depression. Seven hundred eighteen patients and 67...

journal_title：Psychiatric genetics

authors： Dam H,Buch JOD,Nielsen AB,Weikop P,Werge T,Jørgensen MB

更新日期：2019-12-01 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

authors： Lung FW,Chen N,Shu BC

更新日期：2006-08-01 00:00:00

abstract：BACKGROUND:The dopamine transporter gene (DAT1) is an established genetic risk factor for attention deficit hyperactivity disorder (ADHD). Therefore, we hypothesized that DAT1 may also influence the manifestation of ADHD-related traits in the normal population. METHODS:A quantitative association study was carried out ...

journal_title：Psychiatric genetics

authors： Jeong SH,Choi KS,Lee KY,Kim EJ,Kim YS,Joo EJ

更新日期：2015-06-01 00:00:00

abstract：:For a period in the mid-1990s, soon after the discovery of the involvement of trinucleotide repeat expansions in fragile-X syndrome (both A and E), Huntington's disease, myotonic dystrophy, and a number of hereditary ataxias, there was a clear sense that this new disease mechanism might provide answers for psychiatric...

journal_title：Psychiatric genetics

authors： Vincent JB

更新日期：2016-08-01 00:00:00

abstract：:Basal serum thyroid-stimulating hormone (TSH) levels may predict antidepressant efficacy in patients with major depressive episodes (MDE), but data are inconsistent. As the SS genotype of the 5-HTTLPR polymorphism has been associated with a lower antidepressant efficacy in women with MDE, we aimed at assessing the rel...

journal_title：Psychiatric genetics

authors： Gressier F,Trabado S,Verstuyft C,Bouaziz E,Hardy P,Fève B,Becquemont L,Corruble E

更新日期：2011-10-01 00:00:00

abstract：:Evidence for a dysfunction of the N-methyl-D-aspartate (NMDA) type of ionotropic glutamate receptors in schizophrenic patients, comes from neurochemical and clinical pharmacologic data. Therefore, the NMDAR1 gene can be regarded as an interesting candidate gene for schizophrenia. Several groups have tried to identify ...

journal_title：Psychiatric genetics

authors： Paus S,Rietschel M,Schulze TG,Ohlraun S,Diaconu CC,Van Den Bogaert A,Maier W,Propping P,Cichon S,Nöthen MM

更新日期：2004-12-01 00:00:00

abstract：OBJECTIVE:The main aim of the current study was to investigate epigenetic alterations in serotonin 2A receptor (HTR2A) exon I CpG sites as possible risk factors for suicidal behavior. We also aimed to analyze the epigenetic alterations in two different tissues as epigenetic mechanisms are tissue specific. These epigene...

journal_title：Psychiatric genetics

authors： Bani-Fatemi A,Strauss J,Zai C,Wong AHC,de Luca V

更新日期：2017-12-01 00:00:00

abstract：:Although current psychiatric nosology separates bipolar disorder and schizophrenia into non-overlapping categories, there is growing evidence of a partial aetiological overlap between them from linkage, genetic epidemiology and molecular genetics studies. Thus, it is important to determine whether genes implicated in ...

journal_title：Psychiatric genetics

authors： Prata DP,Breen G,Munro J,Sinclair M,Osborne S,Li T,Kerwin R,St Clair D,Collier DA

更新日期：2006-12-01 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

authors： Sidenberg DG,King N,Kennedy JL

更新日期：1994-07-01 00:00:00

abstract：OBJECTIVE:Recent research implicates the catechol-O-methyltransferase (COMT) ValMet polymorphism in stress sensitivity, through modulation of hypothalamic-pituitary-adrenal (HPA) function. In healthy samples, Met homozygosity has been associated with greater HPA activity (i.e., cortisol) and stress sensitivity, though ...

journal_title：Psychiatric genetics

authors： Walder DJ,Trotman HD,Cubells JF,Brasfield J,Tang YL,Walker EF

更新日期：2010-08-01 00:00:00