McLeod syndrome: life-long neuropsychiatric disorder due to a novel mutation of the XK gene.

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

authors： Georgi A,Jamra RA,Schumacher J,Becker T,Schmael C,Deschner M,Höfels S,Wulff M,Schwarz M,Klopp N,Illig T,Propping P,Cichon S,Nöthen MM,Rietschel M,Schulze TG

更新日期：2006-10-01 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：: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：:Attempts to detect anticipation in datasets have been hampered by two statistical problems: confusion about the role of correlation, and ascertainment bias. We show three things. (1) Correlation and anticipation are two distinct phenomena, such that neither high nor low correlation necessarily reveals anything about a...

journal_title：Psychiatric genetics

authors： Hodge SE,Wickramaratne P

更新日期：1995-04-01 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 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：: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：: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 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

authors： Pae CU,Chung KI,Kim JJ,Yu HS,Lee CU,Lee SJ,Lee C,Jun TY,Serretti A,Paik IH

更新日期：2004-06-01 00:00:00

abstract：:A new structural polymorphism (Ser311/Cys311) in the dopamine D2 receptor (DRD2) gene has recently been reported to be associated with schizophrenia, particularly in patients with a positive family history of schizophrenia (Arinimi et al., 1994). However these findings remain controversial (Asherson et al., 1994; Nank...

journal_title：Psychiatric genetics

authors： Laurent C,Bodeau-Péan S,Campion D,d'Amato T,Jay M,Dollfus S,Thibault F,Petit M,Samolyk D,Martinez M

更新日期：1994-01-01 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：:P300 has been demonstrated abnormal for a variety of neuropsychiatric disorders, and heritability has been proposed. We analyzed the event-related potentials for three DRD2 genotype groups in 134 normal young females. The results demonstrate that there is no association for DRD2 genotype and P300 components. Our negat...

journal_title：Psychiatric genetics

authors： Lin CH,Yu YW,Chen TJ,Tsa SJ,Hong CJ

更新日期：2001-09-01 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：:This study investigates the genetic association between methyl-CpG-binding domain (MBD) gene polymorphisms and schizophrenia. A total of 200 family trios consisting of fathers, mothers, and affected offspring with schizophrenia were recruited as our participants. Four tag SNPs on MBD1 (rs125555, rs140689, rs140687, an...

journal_title：Psychiatric genetics

authors： Xie B,Yu Y,Meng X,Yu Q,Shi J,Sang H,Kou C

更新日期：2014-10-01 00:00:00

abstract：:Since 1969, several classical linkage studies suggested an X-chromosome locus for bipolar affective disorder. However, methods using highly polymorphic DNA markers have provided conflicting evidence for linkage, and an X-chromosomal locus for bipolar disorder remains controversial. More recently, Pekkarinen et al. (19...

journal_title：Psychiatric genetics

authors： Vallada HP,Vasques L,Curtis D,Zatz M,Kirov G,Lauriano V,Gentil V,Murray RM,McGuffin P,Owen M,Gill M,Craddock N,Collier DA

更新日期：1998-10-01 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：: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

authors： Inkster B,Muglia P,Jain U,Kennedy JL

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

authors： Murphy EJ,Wickramaratne P,Weissman MM

更新日期：2009-08-01 00:00:00

abstract：:The glycine receptor, which is a member of the ligand-gated ion channel superfamily, mediates synaptic inhibition in the spinal cord and other brain regions. This superfamily has been implicated in the pathogenesis of schizophrenia and other psychiatric diseases. The complete coding sequence and splice junctions of th...

journal_title：Psychiatric genetics

authors： Feng J,Craddock N,Jones IR,Cook EH Jr,Goldman D,Heston LL,Peltonen L,DeLisi LE,Sommer SS

更新日期：2001-03-01 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：OBJECTIVES:Monozygotic twins with near-identical genotypes and discordance for complex diseases represent an exceptional resource to ascertain disease etiology. This strategy has been particularly effective with the availability of high-resolution complete individual genome sequencing. The challenge is using effective ...

journal_title：Psychiatric genetics

authors： Reble E,Castellani CA,Melka MG,O'Reilly R,Singh SM

更新日期：2017-04-01 00:00:00

abstract：OBJECTIVES:Autism is a neurodevelopmental disorder, and genetic factors play an important role in its pathogenesis. Earlier findings suggest the CNTNAP2 as a predisposition locus of autism, but no study has been carried out on the possible association of CNTNAP2 with autism in the Chinese Han population. METHODS:In th...

journal_title：Psychiatric genetics

authors： Li X,Hu Z,He Y,Xiong Z,Long Z,Peng Y,Bu F,Ling J,Xun G,Mo X,Pan Q,Zhao J,Xia K

更新日期：2010-06-01 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

authors： Nurnberger JI Jr

更新日期：2005-06-01 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

authors： Hovatta I,Seppälä J,Pekkarinen P,Tanskanen A,Lönnqvist J,Peltonen L

更新日期：1994-10-01 00:00:00

abstract：:Animal and human studies have implicated oxytocin in affiliative and prosocial behaviors. We tested whether genetic variation in the oxytocin receptor (OXTR) gene is associated with conduct disorder (CD). Utilizing a family-based sample of adolescent probands recruited from an adolescent substance abuse treatment prog...

journal_title：Psychiatric genetics

authors： Sakai JT,Crowley TJ,Stallings MC,McQueen M,Hewitt JK,Hopfer C,Hoft NR,Ehringer MA

更新日期：2012-04-01 00:00:00

abstract：:A number of genes underlie the molecular bases of intelligence. Among these is probably CALL, a novel member of the L1 gene family of neural cell adhesion molecules. By using the single strand conformation polymorphism (SSCP) protocol, we screened the regions of the CALL gene corresponding to the 5' and 3' untranslate...

journal_title：Psychiatric genetics

authors： Angeloni D,Wei MH,Lerman MI

更新日期：1999-09-01 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：:Anorexia nervosa (AN) is a serious and heritable psychiatric disorder. To date, studies of copy number variants (CNVs) have been limited and inconclusive because of small sample sizes. We conducted a case-only genome-wide CNV survey in 1983 female AN cases included in the Genetic Consortium for Anorexia Nervosa. Follo...

journal_title：Psychiatric genetics

authors： Yilmaz Z,Szatkiewicz JP,Crowley JJ,Ancalade N,Brandys MK,van Elburg A,de Kovel CGF,Adan RAH,Hinney A,Hebebrand J,Gratacos M,Fernandez-Aranda F,Escaramis G,Gonzalez JR,Estivill X,Genetic Consortium for Anorexia Nervosa, Well

更新日期：2017-08-01 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

authors： Gizer IR,Ehlers CL,Vieten C,Feiler HS,Gilder DA,Wilhelmsen KC

更新日期：2012-10-01 00:00:00

abstract：OBJECTIVE:Tryptophan hydroxylase is the rate-limiting enzyme in the serotonin biosynthetic pathway and plays an important role in the regulation of serotonin levels. Recently, a brain-specific isoform, tryptophan hydroxylase 2 or n-tryptophan hydroxylase, has been discovered. Some studies reported genetic and functiona...

journal_title：Psychiatric genetics

authors： Harvey M,Gagné B,Labbé M,Barden N

更新日期：2007-02-01 00:00:00