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The complex genetics in autism spectrum disorders

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Science China(Life Sciences) 2015年第10期58卷 933-945页

作者： HUA Rui WEI MengPing ZHANG Chen State Key Laboratory of Membrane Biology School of Life Sciences PKU-IDG/Mc Govern Institute for Brain Research Peking University

autism spectrum disorders(ASD) are a pervasive neurodevelopmental disease characterized by deficits in social interaction and nonverbal communication, as well as restricted interests and stereotypical behavior. Genetic changes/heritability is one of the major contributing factors, and hundreds to thousands of causative and susceptible genes, copy number variants(CNVs), linkage regions, and micro RNAs have been associated with ASD which clearly indicates that ASD is a complex genetic disorder. Here, we will briefly summarize some of the high-confidence genetic changes in ASD and their possible roles in their pathogenesis.

关键词： autism spectrum disorders genetics causative genes copy number variants

Understanding autism spectrum disorders with animal models:applications,insights,and perspectives

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Zoological Research 2021年第6期42卷 800-824页

作者： Zhu Li Yuan-Xiang Zhu Li-Jun Gu Ying Cheng Institute of Biomedical Research Yunnan UniversityKunmingYunnan 650500China

autism spectrum disorder(ASD)is typically characterized by common deficits in social skills and repetitive/stereotyped *** is widely accepted that genetic and environmental factors solely or in combination cause ***,the underlying pathogenic mechanism is unclear due to its highly heterogeneous *** better understand the pathogenesis of ASD,various animal models have been generated,which can be generally divided into genetic,environment-induced,and idiopathic animal *** this review,we summarize the common animals used for ASD study and then discuss the applications,clinical insights,as well as challenges and prospects of current ASD animal models.

关键词： autism spectrum disorders Animal models Neurodevelopment Genetics Environment

Comparison of gut microbiota in autism spectrum disorders and neurotypical boys in China:A case-control study

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Synthetic and Systems Biotechnology 2021年第2期6卷 120-126页

作者： Fang Ye Xinying Gao Zhiyi Wang Shuman Cao Guangcai Liang Danni He Zhitang Lv Liming Wang Pengfei Xu Qi Zhang Department of Pediatrics China-Japan Friendship HospitalBeijingChina Institute of Microbiology Chinese Academy of SciencesBeijingChina College of Life Sciences Institute of Life Science and Green DevelopmentKey Lab of Microbial Diversity Research and Application of Hebei ProvinceHebei UniversityBaodingChina Clinical Research Institute China-Japan Friendship HospitalBeijingChina

Background:autism spectrum disorders(ASDs)are a set of complex neurobiological *** evidence has shown that the microbiota that resides in the gut can modulate brain development via the gut–brain ***,direct clinical evidence of the role of the microbiota–gut–brain axis in ASD is relatively ***:A case-control study of 71 boys with ASD and 18 neurotypical controls was conducted at China-Japan Friendship *** information and fecal samples were collected,and the gut microbiome was evaluated and compared by 16S ribosomal RNA gene sequencing and metagenomic ***:A higher abundance of operational taxonomic units(OTUs)based on fecal bacterial profiling was observed in the ASD *** different microbiome profiles were observed between the two *** the genus level,we observed a decrease in the relative abundance of Escherichia,Shigella,Veillonella,Akkermansia,Provindencia,Dialister,Bifidobacterium,Streptococcus,Ruminococcaceae UCG_002,Megasphaera,Eubacterium_coprostanol,Citrobacter,Ruminiclostridium_5,and Ruminiclostridium_6 in the ASD cohort,while Eisenbergiella,Klebsiella,Faecalibacterium,and Blautia were significantly *** bacterial strains were selected for clinical discrimination between those with ASD and the neurotypical *** highest AUC value of the model was ***:Significant differences were observed in the composition of the gut microbiome between boys with ASD and neurotypical *** findings contribute to the knowledge of the alteration of the gut microbiome in ASD patients,which opens the possibility for early identification of this disease.

关键词： autism spectrum disorders Gut microbiome China

Pathophysiology of autism spectrum disorders:Revisiting gastrointestinal involvement and immune imbalance

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World Journal of Gastroenterology 2014年第29期20卷 9942-9951页

作者： Mohtashem Samsam Raheleh Ahangari Saleh A Naser Burnett School of Biomedical Sciences (BSBS) College of MedicineUniversity of Central Florida

autism spectrum disorders(ASD)comprise a group of neurodevelopmental abnormalities that begin in early childhood and are characterized by impairment of social communication and behavioral problems including restricted interests and repetitive *** genes have been implicated in the pathogenesis of ASD,most of them are involved in neuronal synaptogenesis.A number of environmental factors and associated conditions such as gastrointestinal(GI)abnormalities and immune imbalance have been linked to the pathophysiology of *** to the March 2012 report released by United States Centers for Disease Control and Prevention,the prevalence of ASD has sharply increased during the recent years and one out of 88 children suffers now from ASD *** there is a strong genetic base for the disease,several associated factors could have a direct link to the pathogenesis of ASD or act as modifiers of the genes thus aggravating the initial *** children suffering from ASD have GI problems such as abdominal pain,chronic diarrhea,constipation,vomiting,gastroesophageal reflux,and intestinal infections.A number of studies focusing on the intestinal mucosa,its permeability,abnormal gut development,leaky gut,and other GI problem raised many questions but studies were somehow inconclusive and an expert panel of American Academy of Pediatrics has strongly recommended further investigation in these *** tract has a direct connection with the immune system and an imbalanced immune response is usually seen in ASD *** infection or autoimmune diseases have been *** of the immune system during early development may have deleterious effect on various organs including the nervous *** this review we revisited briefly the GI and immune system abnormalities and neuropeptide imbalance and their role in the pathophysiology of ASD and discussed some future research directions.

关键词： autism spectrum disorders Gastrointestinal abnormalities Immune activation Crohn's disease Neuropeptides Brain-derived neurotrophic factor Mycobacterium paratuberculosis

Regional cerebral blood flow in children with autism spectrum disorders： a quantitative 99mTc-ECD brain SPECT study with statistical parametric mapping evaluation

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Chinese Medical Journal 2011年第9期000卷 1362-1366页

作者： YANG Wen-han JING Jin XIU Li-juan CHENG Mu-hua WANG Xin BAO Peng WANG Qing-xiong Faculty of Child and Maternal Health School of Public Health Sun Yat-sen University Guangzhou Guangdong 510080 China 3rd Affiliated Hospital Sun Yat-sen University Guangzhou Guangdong 510080 China Department of Health Care Guangzhou Women and Children's Medical Center Guangzhou Guangdong 510623 China

Background autism spectrum disorders （ASD）, which include autism, asperger syndrome （AS） and pervasive developmental disorder-not otherwise specified （PDD-NOS）, are devastating neurodevelopmental disorders of childhood resulting in deficits in social interaction, repetitive patterns of behaviors, and restricted interests and activities. Single photon emission computed tomography （SPECT） is a common technique used to measure regional cerebral blood flow （rCBF）. Several studies have measured rCBF in children with ASD using SPECT, however, findings are discordant. In addition, the majority of subjects used in these studies were autistic. In this study, we aimed to investigate changes in rCBF in children with ASD using *** A Technetium-99m-ethyl cysteinate dimmer （99mTc-ECD） brain SPECT study was performed on an ASD group consisting of 23 children （3 girls and 20 boys; mean age （7.2±3.0） years） who were diagnosed according to Diagnostic and Statistical Manual of Mental disorders, 4th edition （DSM-Ⅳ） criteria and an age-matched control group with 8children （1 girl and 7 boys, mean age （5.5±2.4） years）. Image data were evaluated with Statistical Parametric Mapping,5th version （SPM5）. A Student＇s t test for unpaired data was used to compare rCBF and asymmetry in the autism and corresponding control group. The covariance analysis, taking age as covariance, was performed between the ASD and control *** There was a significant reduction in rCBF in the bilateral frontal lobe （frontal poles, arcula frontal gyrus） and the bilateral basal ganglia in the autism group, and a reduction in the bilateral frontal, temporal, parietal, legumina nucleus and cerebellum in the AS group compared to the control. In addition, asymmetry of hemispheric hypoperfusion in the ASD group was observed. Inner-group comparison analysis revealed that rCBF decreased significantly in the bilateral frontal lobe （42.7%）, basal nucleus （24.9%） and temporal lobe （22.8%） in the autism group,

关键词： autism spectrum disorders single photon emission computed tomography regional cerebral blood flow

Parent Initiated Evaluation Is Prevalent in autism spectrum disorders

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Parent Initiated Evaluation Is Prevalent in Autism Spectrum ...

Genomic landscapes of Chinese sporadic autism spectrum disordersrevealed by whole-genome sequencing

第四届全国儿童康复、第十一届全国小儿脑瘫康复学术会议暨国际学术交流会议

作者： Hashim A Fleishman S West T Department of Pediatrics Newark Beth Isaeral HospitalNewarkNJ The autism Center UMDNJ-New Jersey Medical SchoolNewarkNJ Department of Neurosciences and Neurology

Objectives To determine whether pediatricians play an activerole in early identification and treatment of autism spectrum disorders(ASD)by comparing the source of patient referrals to a pediatric neurologist in children with ASD and those with other neurological disorders. Method A retrospective review of 216 charts of patients referred to a pediatric neurologist between April 2005 and June ***'s date of birth,gender,the source of the referral,the reasons for the referral,type of health insurance,and neurological diagnosis were *** generated referrals were compared between the twogroups;reasons for referral were in corpo rate dtodetermine if they contribute to physician generated referrals. Results The children with ASD evaluated by the neurologist were predominantlynon-physicia *** were significantly less physician generatedre ferrals in children with ASD than in children with non-autistic *** in the children with ASD,the presence of amedical disorder was twice as likely to bereferred by a physician to the neurologist. Conclusion Parent initiated evaluation is still prevalent in *** ed involvement of pediatricians in advocating specialty care is needed.

关键词： autism spectrum disorders patient referral pattern self referral autism awareness

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Journal of Genetics and Genomics 2018年第10期45卷 527-538页

作者： Jinyu Wu Ping Yu Xin Jin Xiu Xu Jinchen Li Zhongshan Li Mingbang Wang Tao Wang Xueli Wu Yi Jiang Wanshi Cai Junpu Mei Qingjie Min Qiong Xu Bingrui Zhou Hui Guo Ping Wang Wenhao Zhou Zhengmao Hu Yingrui Li Tao Cai Yi Wang Kun Xia Yong-Hui Jiang Zhong Sheng Sun Institute of Genomic Medicine Wenzhou Medical UniversityWenzhou 325000China BGI-Shenzhen Shenzhen 518083China Department of Child Healthcare Children's Hospital of Fudan UniversityShanghai 200032China State Key Laboratory of Medical Genetics Central South UniversityChangsha 410078China Beijing Institutes of Life Science Chinese Academy of SciencesBeijing 100101China Department of Pediatrics and Neurobiology Duke University School of MedicineDurhamNC 27710USA

autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable clinical and genetic *** this study,we identified all classes of genomic variants from whole-genome sequencing (WGS) dataset of 32 Chinese trios with ASD,including de novo mutations,inherited variants,copy number variants (CNVs) and genomic structural variants.A higher mutation rate (Poisson test,Pdisorders may be in favor to *** particular,frequent rare inherited mutations of several microcephaly-associated genes (ASPM,WDR62,and ZNF335)were found in *** chromosomal structure analyses,we found four de novo CNVs and one de novo chromosomal rearrangement event,including a de novo duplication of UBE3A-containing region at 15q11.2-q13.1,which causes Angelman syndrome and microcephaly,and a disrupted TNR due to de novo chromosomal translocation t (1;5) (q25.1;q33.2).Taken together,our results suggest that abnormalities of centrosomal function and chromatin remodeling of the microcephaly-associated genes may be implicated in pathogenesis of *** of WGS as a new yet efficient technique to illustrate the full genetic spectrum in complex disorders,such as ASD,could provide novel insights into pathogenesis,diagnosis and treatment.

关键词： autism spectrum disorders De novo mutations Microcephaly-associated genes Whole-genome sequencing

Transcriptional regulation in the development and dysfunction of neocortical projection neurons

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Neural Regeneration Research 2024年第2期19卷 246-254页

作者： Ningxin Wang Rong Wan Ke Tang Precise Genome Engineering Center School of Life SciencesGuangzhou UniversityGuangzhouGuangdong ProvinceChina

Glutamatergic projection neurons generate sophisticated excitatory circuits to integrate and transmit information among different cortical areas,and between the neocortex and other regions of the brain and spinal *** development of cortical projection neurons is regulated by certain essential events such as neural fate determination,proliferation,specification,differentiation,migration,survival,axonogenesis,and *** processes are precisely regulated in a tempo-spatial manner by intrinsic factors,extrinsic signals,and neural *** generation of correct subtypes and precise connections of projection neurons is imperative not only to support the basic cortical functions(such as sensory information integration,motor coordination,and cognition)but also to prevent the onset and progression of neurodevelopmental disorders(such as intellectual disability,autism spectrum disorders,anxiety,and depression).This review mainly focuses on the recent progress of transcriptional regulations on the development and diversity of neocortical projection neurons and the clinical relevance of the failure of transcriptional modulations.

关键词： autism spectrum disorders cognition differentiation excitatory circuits intellectual disability neocortex neurodevelopmental disorders projection neuron specification transcriptional regulation

Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes

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Journal of Genetics and Genomics 2021年第4期48卷 312-323页

作者： Tao Wang Yi Zhang Liqui Liu Yan Wang Huiqian Chen Tianda Fan Jinchen Li Kun Xia Zhongsheng Sun Center for Medical Genetics&Hunan Key Laboratory of Medical Genetics School of Life SciencesCentral South UniversityChangshaHunan 410083China Beijing Institutes of Life Science Chinese Academy of SciencesBeijing 100101China DIAGenes Precision Medicine Beijing 102600China National Clinical Research Centre for Geriatric disorders Department of GeriatricsXiangya HospitalCentral South UniversityChangshaHunan 410083China Shanghai Adeptus Biotechnology Shanghai 200126China Institute of Genomic Medicine Wenzhou Medical UniversityWenzhouZhejiang 325035China Department of Neurology Xiangya HospitalCentral South UniversityChangsha Hunan410083China CAS Center for Excellence in Brain Science and Intelligences Technology(CEBSIT) Shanghai 200031China School of Basic Medical Science Central South UniversityChangshaHunan410083China CAS Center for Excellence in Biotic Interactions University of Chinese Academy of SciencesBeijing 100049China State Key Laboratory of Integrated Management of Pest Insects and Rodents Chinese Academy of SciencesBeijing 100101China

Neurodevelopmental disorders(NDDs)are a set of complex disorders characterized by diverse and cooccurring clinical *** genetic contribution in patients with NDDs remains largely ***,we sequence 519 NDD-related genes in 3,195 Chinese probands with neurodevelopmental phenotypes and identify 2,522 putative functional mutations consisting of 137 de novo mutations(DNMs)in 86 genes and 2,385 rare inherited mutations(RIMs)with 22 X-linked hemizygotes in 13 genes,2 homozygous mutations in 2 genes and 23 compound heterozygous mutations in 10 ***,the DNMs of16,807 probands with NDDs are retrieved from public datasets and combine in an integrated analysis with the mutation data of our Chinese NDD probands by taking 3,582 in-house controls of Chinese origin as *** prioritize 26 novel candidate ***,six of these genes d ITSN1,UBR3,CADM1,RYR3,FLNA,and PLXNA3 d preferably contribute to autism spectrum disorders(ASDs),as demonstrated by high co-expression and/or interaction with ASD genes confirmed via rescue experiments in a mouse ***,these genes are differentially expressed in the ASD cortex in a significant manner and involved in ASD-associated ***,our study expands the genetic spectrum of Chinese NDDs,further facilitating both basic and translational research.

关键词： De novo mutations X-linked variants Rare inherited variants Homozygous mutations Neurodevelopmental disorders autism spectrum disorders Candidate genes