Clinical, cytogenetic, and molecular description of a FRAXE French family.

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：: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

authors： Kaur H,Thom RP,Neumeyer AM,Bilancia CG,Wray SH,McDougle CJ

更新日期：2020-08-01 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：: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：: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

authors： Messas G,Meira-Lima I,Turchi M,Franco O,Guindalini C,Castelo A,Laranjeira R,Vallada H

更新日期：2005-09-01 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：:Family, twin and adoption studies highlight the influence of genes in the aetiology of schizophrenia, though the mode of inheritance is unclear. We have been conducting a systematic search for major genes in schizophrenia using a series of multiply affected families and report preliminary results of linkage under hete...

journal_title：Psychiatric genetics

authors： Lin MW,Curtis D,Williams N,Arranz M,Nanko S,Collier D,McGuffin P,Murray R,Owen M,Gill M

更新日期：1995-10-01 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：: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：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：: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：: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：: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：: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：: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：: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：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：: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：: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 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:To explore the effect of APOE polymorphisms on patients with cognitive impairments in The Chinese Han population. MATERIALS AND METHODS:A total of 1027 cases with Alzheimer's disease (AD), 40 cases with vascular dementia (VaD), 28 cases with behavioral variant frontotemporal dementia (bvFTD), 54 cases with s...

journal_title：Psychiatric genetics

authors： Chen KL,Sun YM,Zhou Y,Zhao QH,Ding D,Guo QH

更新日期：2016-06-01 00:00:00

abstract：OBJECTIVE:Postpartum depression (PPD) is an under diagnosed and under treated mood disorder, with negative impact on both the mother and the infant's health. The aim of this study is to examine whether genetic variations in the monoaminergic neurotransmitter system, together with environmental stressors, contribute to ...

journal_title：Psychiatric genetics

authors： Comasco E,Sylvén SM,Papadopoulos FC,Sundström-Poromaa I,Oreland L,Skalkidou A

更新日期：2011-02-01 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：:We have undertaken a search for polymorphic sequence variation within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2 (DISC1 and DISC2), which are both novel genes that span a translocation breakpoint strongly associated with schizophrenia and related psychoses in a large Scottish family. A scan of the c...

journal_title：Psychiatric genetics

authors： Devon RS,Anderson S,Teague PW,Burgess P,Kipari TM,Semple CA,Millar JK,Muir WJ,Murray V,Pelosi AJ,Blackwood DH,Porteous DJ

更新日期：2001-06-01 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

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：: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：: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：:Catechol-O-methyltransferase (COMT) catalyses the methylation, and hence the inactivation, of catecholamines including the neurotransmitters dopamine and noradrenaline. There is evidence implicating COMT as a candidate gene for a number of neuropsychiatric conditions including bipolar disorder. A long recognized popul...

journal_title：Psychiatric genetics

authors： Mynett-Johnson LA,Murphy VE,Claffey E,Shields DC,McKeon P

更新日期：1998-01-01 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 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