Abstract：
BACKGROUND:Pathogenic mutations in the X-linked Neuroligin 4 gene (NLGN4X) in autism spectrum disorders (ASDs) and/or mental retardation (MR) are rare. However, nothing is known regarding a possible altered expression level of NLGN4X that would be caused by mutations in regulatory sequences. We investigated this issue by analyzing these regions in patients with ASDs and no mutation in the NLGN4X coding sequence. METHODS:We studied 96 patients who met all DSM-IV criteria for autism. The entire coding sequence and the regulatory sequences of the NLGN4X gene were analyzed by polymerase chain reaction and direct sequencing. RESULTS:We identified a de novo 1 base pair (-335G>A) substitution located in the promoter region in a patient with autism and nonsyndromic profound MR. Interestingly, this variation is associated with an increased level of the NLGN4X transcript in the patient compared with male control subjects as well as his father. Further in vitro luciferase reporter and electrophoretic mobility shift assays confirmed, respectively, that this mutation increases gene expression and is probably caused by altered binding of transcription factors in the mutated promoter sequence. CONCLUSIONS:This result brings further insight about the phenotypic spectrum of NLGN4X mutations and suggests that the analysis of the expression level of NLGN4X might detect new cases.
journal_name
Biol Psychiatryjournal_title
Biological psychiatryauthors
Daoud H,Bonnet-Brilhault F,Védrine S,Demattéi MV,Vourc'h P,Bayou N,Andres CR,Barthélémy C,Laumonnier F,Briault Sdoi
10.1016/j.biopsych.2009.05.008subject
Has Abstractpub_date
2009-11-15 00:00:00pages
906-10issue
10eissn
0006-3223issn
1873-2402pii
S0006-3223(09)00597-6journal_volume
66pub_type
杂志文章abstract：BACKGROUND:In schizophrenia (SZ), disturbances in integration of activity among brain regions seem to be as important as abnormal activity of any single region. Brain regions are connected through white matter (WM) tracts, and diffusion tensor imaging has provided compelling evidence for WM abnormalities in SZ. However...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2013.03.003
更新日期：2013-09-15 00:00:00
abstract：BACKGROUND:We have previously shown that juvenile bipolar disorder (BPD) is a risk for substance use disorders (SUD). Here we examine the expression of both disorders in families of youth with BPD to evaluate the familial risk mechanism. METHODS:We studied 108 adolescent BPD probands with 187 parents (34 with SUD and ...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2006.11.022
更新日期：2007-07-15 00:00:00
abstract：BACKGROUND:Striatal enlargement with chronic neuroleptic treatment in schizophrenic patients has been reported by several investigators. Longitudinal magnetic resonance imaging studies of patients suggest that changes in striatal volume may be caused by treatment with antipsychotic medication. METHODS:We have examined...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/s0006-3223(98)00029-8
更新日期：1998-10-15 00:00:00
abstract：:The authors evaluated magnetic resonance imaging (MRI) of deep white matter hyperintensity (DWMH) in 90 adult psychiatric inpatients in whom MRIs were clinically indicated and 25 age-matched, medically healthy controls. Forty-two percent of the psychiatric patients and 12% of the controls had evidence of DWMH on MRI. ...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/0006-3223(91)90058-t
更新日期：1991-05-01 00:00:00
abstract：BACKGROUND:Brainstem auditory evoked potentials (BAEP) reflect the activation of brainstem nuclei in the first milliseconds after presentation of an auditory stimulus. These electrophysiological correlates of neural processing are highly automatic and not influenced by cognitive factors or task demands; however, data f...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2005.09.009
更新日期：2006-04-01 00:00:00
abstract：:Recall of dichotically presented digit strings was compared between normal controls and 18 chronic schizophrenic patients tested over 12 weeks on chlorpromazine, placebo, and chlorpromazine reinstatement. Patients were subgrouped according to (i) arousal as indexed by orienting responses in a tone-habituation sequence...
journal_title：Biological psychiatry
pub_type： 临床试验,杂志文章
doi：
更新日期：1980-10-01 00:00:00
abstract：BACKGROUND:The aim of the present study was to investigate dopamine synthesis in the brain of drug-free schizophrenic patients, not only in the striatum but also in extrastriatal areas like the prefrontal cortex, brain areas that for a long time has been in focus of interest in the pathophysiology of schizophrenia. ME...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/s0006-3223(99)00109-2
更新日期：1999-09-01 00:00:00
abstract：:Long-term normal-dose benzodiazepine treatment in seven patients was associated with reduced urinary excretion of MOPEG (4-hydroxy-3-methoxy-phenylglycol). Following the discontinuation of the drugs a characteristic withdrawal reaction occurred, with an increase towards normal values of the MOPEG excretion levels and ...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：
更新日期：1983-02-01 00:00:00
abstract：:This study evaluated the effect of an acute reduction in catecholamine synthesis produced by alpha-methyl-para-tyrosine (AMPT), a tyrosine hydroxylase inhibitor, on cocaine-induced euphoria. In a blinded, placebo-controlled study, AMPT (1 g p.o. T.I.D.) was given to 10 non-treatment-seeking cocaine abusers prior to in...
journal_title：Biological psychiatry
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1016/s0006-3223(96)00331-9
更新日期：1997-08-01 00:00:00
abstract：BACKGROUND:Depression is associated with significant functional impairment. Recent evidence has linked the orbital frontal cortex (OFC) with depression. We examined the relationship between OFC volumes in older subjects and impairment in the basic (BADL) and instrumental (IADL) activities of daily living. METHODS:The ...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/s0006-3223(02)01490-7
更新日期：2003-01-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/0006-3223(88)90102-3
更新日期：1988-01-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/0006-3223(90)90662-l
更新日期：1990-08-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2013.02.010
更新日期：2013-10-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/0006-3223(91)90094-3
更新日期：1991-03-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章,评审
doi：10.1016/j.biopsych.2020.02.002
更新日期：2020-08-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2019.06.006
更新日期：2020-01-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/0006-3223(94)90639-4
更新日期：1994-10-01 00:00:00
abstract：:In epidemiologic studies, unrecognized bias can contribute to observed results, causing them to be inaccurate. Analytic study designs, such as the case-control and cohort designs, each carry potential for specific forms of bias. The cohort design is not susceptible to many forms of bias that are experienced by case-co...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/s0006-3223(00)01077-5
更新日期：2001-02-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章,评审
doi：10.1016/s0006-3223(98)00265-0
更新日期：1998-12-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章,评审
doi：10.1016/s0006-3223(98)00186-3
更新日期：1998-11-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章,评审
doi：10.1016/j.biopsych.2019.05.012
更新日期：2019-10-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/0006-3223(89)90049-8
更新日期：1989-08-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：
更新日期：1980-02-01 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2018.03.012
更新日期：2018-09-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/0006-3223(90)90646-j
更新日期：1990-01-15 00:00:00
abstract：BACKGROUND:The search for susceptibility genes in autism and autism spectrum disorders (ASD) has been hindered by the possible small effects of individual genes and by genetic (locus) heterogeneity. To overcome these obstacles, one method is to use autism-related subphenotypes instead of the categorical diagnosis of au...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/j.biopsych.2008.05.023
更新日期：2008-10-01 00:00:00
abstract：BACKGROUND:Affective disorders are associated with prominent psychomotor abnormalities that may be related to changes in arousal or motivation due to altered catecholamine function. METHODS:We investigated relationships between performance on psychomotor tests of motor speed (reaction time and tapping speed) and visua...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/s0006-3223(98)00172-3
更新日期：1999-04-15 00:00:00
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journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/s0006-3223(99)00213-9
更新日期：1999-11-15 00:00:00
abstract：BACKGROUND:Anxiety disorders are common after traumatic brain injury (TBI). Data on the neural correlates of these conditions are lacking. This study examines the relationship between brain damage, particularly to the orbitofrontal cortex (OFC) and temporal lobe, and anxiety symptoms and disorders. METHODS:Ninety-five...
journal_title：Biological psychiatry
pub_type： 杂志文章
doi：10.1016/s0006-3223(03)00708-x
更新日期：2004-02-01 00:00:00
abstract：:Methysergide a clinically used blocker of serotonin receptors, was given for 48 hr to 11 normal adults, at a dose of 8 mg per 24 hr. Total REM sleep time was decreased, although total sleep time was unchanged. Stage 4 decreased and stage 3 increased, while total slow wave sleep remained constant. There was a tendency ...
journal_title：Biological psychiatry
pub_type： 临床试验,杂志文章
doi：
更新日期：1975-08-01 00:00:00
