Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa.

abstract：:Using 23 multiplex pedigrees we tested for linkage between schizophrenia and a microsatellite polymorphism for the D5 dopamine receptor gene (DRD5). Assuming autosomal dominant inheritance and a maximum penetrance of 0.6, an overall lod score of -4.54 was derived at 0% recombination. For recessive transmission the sum...

journal_title：Psychiatric genetics

authors： Ravindranathan A,Coon H,DeLisi L,Holik J,Hoff M,Brown A,Shields G,Crow T,Byerley W

更新日期：1994-07-01 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：: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

authors： Karkowski LM,Kendler KS

更新日期：1997-01-01 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：:Developmental dyslexia (DD) is a neurobiological disorder featured by reading disabilities. In recent years, genome-wide approaches provided new perspectives to discover novel candidate genes of DD. In a previous study, rs9313548 located downstream of FGF18 showed borderline genome-wide significant association with DD...

journal_title：Psychiatric genetics

authors： Chen H,Zhou Y,Ge Z,Li Q,Sun Q,Zheng L,Lv H,Tan LH,Sun Y

更新日期：2018-02-01 00:00:00

abstract：:There is evidence for a genetic contribution to attention-deficit hyperactivity disorder (ADHD), although no candidate genes have attained genome-wide significance to date. Given that the noradrenergic system has been implicated in ADHD, the gene for the α2-adrenergic receptor (ADRA2A) has been hypothesized to contrib...

journal_title：Psychiatric genetics

authors： Shiffrin ND,Gruber J,Glatt SJ,Faraone SV

更新日期：2013-08-01 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：:Altered intracellular calcium homeostasis and oxidative stress are involved in the pathophysiology of bipolar disorder (BD)-I. To explore the genes contributing to these abnormalities, we examined the association with BD of the iPLA2β (PLA2G6), a signaling enzyme that mobilizes the arachidonic acid signaling cascade a...

journal_title：Psychiatric genetics

authors： Xu C,Warsh JJ,Wang KS,Mao CX,Kennedy JL

更新日期：2013-04-01 00:00:00

abstract：:The purpose of this study was to investigate the effects of the 5-HTTLPR and brain-derived neurotrophic factor (BDNF) Val66Met polymorphisms on self-reported Big Five personality traits and their facets in a population representative sample of adolescents. The sample consisted of both cohorts of the Estonian Children ...

journal_title：Psychiatric genetics

authors： Hiio K,Merenäkk L,Nordquist N,Parik J,Oreland L,Veidebaum T,Harro J

更新日期：2011-10-01 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：:There are many different genotyping technologies and chemistries. Other articles in this special issue focus on nanotechnology, bioinformatics, DNA chips and genotyping methods. This article focuses on four method categories not featured elsewhere in this, or the following special issue: (1) melting curve-based techno...

journal_title：Psychiatric genetics

authors： Breen G

更新日期：2002-06-01 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

authors： Hayden EP,Klein DN,Dougherty LR,Olino TM,Laptook RS,Dyson MW,Bufferd SJ,Durbin CE,Sheikh HI,Singh SM

更新日期：2010-12-01 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

authors： Chandradasa M,Williams S

更新日期：2018-06-01 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

authors： Salo J,Pulkki-Råback L,Hintsanen M,Lehtimäki T,Keltikangas-Järvinen L

更新日期：2010-12-01 00:00:00

abstract：OBJECTIVES:The genetic basis of schizophrenia is obscure. In an XX male patient with schizophrenia we previously showed that one X;Y translocation breakpoint was in pseudoautosomal region 1 (PAR1) with the effect that the proximal segment of PAR1 from the PAR1 boundary to acetylserotonin N-methyl transferase (ASMT) dis...

journal_title：Psychiatric genetics

authors： Ross NL,Mavrogiannis LA,Sargent CA,Knight SJ,Wadekar R,DeLisi LE,Crow TJ

更新日期：2003-06-01 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

authors： Kunugi H,Vallada HP,Sham PC,Hoda F,Arranz MJ,Li T,Nanko S,Murray RM,McGuffin P,Owen M,Gill M,Collier DA

更新日期：1997-10-01 00:00:00

abstract：OBJECTIVE:To apply phenotypic and statistical methods designed to account for heterogeneity to linkage analyses of the autism Collaborative Linkage Study of Autism (CLSA) affected sibling pair families. METHOD:The CLSA contains two sets of 57 families each; Set 1 has been analyzed previously, whereas this study presen...

journal_title：Psychiatric genetics

authors： Wassink TH,Vieland VJ,Sheffield VC,Bartlett CW,Goedken R,Childress D,Piven J

更新日期：2008-04-01 00:00:00

abstract：OBJECTIVES:PDLIM5 (ENH, LIM protein) [Postsynaptic Density-95/discs large/Zone occludens-1 (PDZ) and Lin-11, Isl-1, Mec-3 (LIM) domain 5;] is an adaptor protein that selectively binds protein kinase C-epsilon (PKC epsilon) to N-type Ca channels in brain neurons. As it has been suggested that alterations in protein kina...

journal_title：Psychiatric genetics

authors： Squassina A,Manchia M,Manconi F,Piccardi M,Ardau R,Chillotti C,Severino G,Del Zompo M

更新日期：2008-06-01 00:00:00

abstract：:Phenylthiocarbamide (PTC) taste sensitivity is an inherited trait determined primarily by allelic variation of the taste-receptor gene TAS2R38 on chromosome 7q. Results of prior studies examining the ability to taste PTC in patients with schizophrenia have been mixed because of the difficulties in measuring PTC taste ...

journal_title：Psychiatric genetics

authors： Moberg PJ,Li M,Kanes SJ,Gur RE,Kamath V,Turetsky BI

更新日期：2012-12-01 00:00:00

abstract：OBJECTIVES:The OPRL1 gene encodes the nociceptin/orphanin FQ receptor, which plays a role in regulating tolerance and behavioral responses to morphine. However, there is limited information on whether variants of OPRL1 are associated with vulnerability to develop opiate addiction. In this study, we examined five varian...

journal_title：Psychiatric genetics

authors： Briant JA,Nielsen DA,Proudnikov D,Londono D,Ho A,Ott J,Kreek MJ

更新日期：2010-04-01 00:00:00

abstract：OBJECTIVE:The human adenosine A1 receptor gene (ADORA1) localizes to chromosome 1q32 is 76.8 kbp in length and contains six exons. ADORA1 is ubiquitously expressed in the central nervous system and clinical and pharmacological evidence suggest the involvement of adenosine neurotransmission in the pathogenesis of schizo...

journal_title：Psychiatric genetics

authors： Gotoh L,Mitsuyasu H,Kobayashi Y,Oribe N,Takata A,Ninomiya H,Stanton VP Jr,Springett GM,Kawasaki H,Kanba S

更新日期：2009-12-01 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：: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：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：:Genetic research of cocaine abuse has been relatively limited among the African-American population. Since the serotonin transporter (5HTT) may be involved in modulating effects of cocaine, we investigated whether allelic variants of the 5HTT gene may confer susceptibility to cocaine dependence among African-American ...

journal_title：Psychiatric genetics

authors： Patkar AA,Berrettini WH,Hoehe M,Hill KP,Gottheil E,Thornton CC,Weinstein SP

更新日期：2002-09-01 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：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：: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...

journal_title：Psychiatric genetics

authors： Morris S,Leung J,Sharp C,Blackwood D,Muir W,St Clair D

更新日期：1994-04-01 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 12th Annual Pharmacogenetics in Psychiatry meeting was held in Hollywood, Florida, from 31 May to 1 June 2013, in conjunction with the NCDEU meeting. It included a series of oral presentations as well as a poster session. This report summarizes the presentations at the conference. ...

journal_title：Psychiatric genetics

authors： Zhang JP,Aitchison KJ,Malhotra AK

更新日期：2014-10-01 00:00:00