检索结果-内蒙古大学图书馆

您好，读者！请登录

内蒙古大学图书馆

首页
概况
党建
资源
服务
科研支持
- 论文收录引用证明
- 科技查新
知识产权
档案馆
帮助

咨询与建议

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

您的常用邮箱：*

您的手机号码：*

问题描述：

当前已输入0个字，您还可以输入200个字

全部搜索
期刊论文
图书
学位论文
标准
纸本馆藏
外文资源发现
数据库导航
超星发现

高级检索

时间限定

出版年份：

文献类型

图书期刊文献学位论文多媒体

馆藏选择

电子馆藏纸本馆藏

核心期刊

全部期刊 SCI 收录期刊 SSCI 收录期刊 EI 收录期刊 CSCD 收录期刊 CSSCI 收录期刊

语言

中文英文

文献类型

期刊文献图书学位论文标准纸本馆藏

帮助

文字说明：

T=题名（书名、题名），A=作者（责任者），K=主题词，P=出版物名称，PU=出版社名称，O=机构（作者单位、学位授予单位、专利申请人），L=中图分类号，C=学科分类号，U=全部字段，Y=年（出版发行年、学位年度、标准发布年）

检索规则说明：

AND代表“并且”；OR代表“或者”；NOT代表“不包含”；(注意必须大写,运算符两边需空一格)

检索范例：

范例一：(K=图书馆学 OR K=情报学) AND A=范并思 AND Y=1982-2016
范例二：P=计算机应用与软件 AND (U=C++ OR U=Basic) NOT K=Visual AND Y=2011-2016

分类表

所选分类

>> <<

限定检索结果

文献类型

542 篇 会议
1 篇 成果

馆藏范围

543 篇 电子文献
0 种 纸本馆藏

日期分布

学科分类号

412 篇 医学
- 399 篇 临床医学
- 17 篇 基础医学(可授医学...
- 15 篇 医学技术（可授医学...
- 5 篇 口腔医学
- 2 篇 公共卫生与预防医...
- 2 篇 中西医结合
- 1 篇 药学(可授医学、理...
6 篇 理学
- 6 篇 生物学
6 篇 工学
- 4 篇 生物医学工程（可授...
- 1 篇 仪器科学与技术
- 1 篇 公安技术
2 篇 管理学
- 2 篇 管理科学与工程(可...

主题

26 篇 产前诊断
25 篇 综合征
22 篇 基因突变
16 篇 先证者
15 篇 dna
13 篇 染色体核型分析
13 篇 染色体
11 篇 rna
11 篇 基因诊断
10 篇 snp
10 篇 基因突变分析
10 篇 相关性研究
9 篇 基因检测
9 篇 染色体异常
9 篇 基因型
7 篇 分子遗传学
7 篇 杂合突变
7 篇 sma
7 篇 拷贝数变异
7 篇 临床表型

机构

27 篇 上海交通大学医学...
23 篇 河南省人民医院
19 篇 中国医科大学
16 篇 中南大学
15 篇 中山大学
13 篇 中国医学科学院基...
12 篇 复旦大学
12 篇 郑州市儿童医院
11 篇 广州医科大学附属...
11 篇 柳州市妇幼保健院...
9 篇 吉林大学第一医院
9 篇 湖南省妇幼保健院
8 篇 北京大学第一医院
8 篇 温州市中心医院
8 篇 南方医科大学
8 篇 首都医科大学附属...
7 篇 江西省儿童医院
7 篇 山东中医药大学第...
7 篇 柳州市妇幼保健院
7 篇 中山大学附属第一...

作者

23 篇 顾学范
22 篇 余永国
16 篇 严提珍
16 篇 范燕洁
15 篇 邱文娟
15 篇 张惠文
14 篇 王丽丽
14 篇 韩连书
14 篇 叶军
14 篇 邬玲仟
13 篇 唐宁
13 篇 罗世强
13 篇 廖世秀
12 篇 李哲涛
11 篇 张清炯
10 篇 黄际卫
10 篇 张学
10 篇 李伍高
10 篇 梁黎黎
9 篇 刘睿智

语言

399 篇 中文
144 篇 英文

检索条件"任意字段=中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会"

共 543 条记录，以下是511-520 订阅

全选清除本页清除全部题录导出标记到"检索档案"

详细简洁

排序：

Identification of A Novel Homozygous 940 bp Deletion in the CFTR Gene in A Chinese Cystic Fibrosis Patient

Identification of A Novel Homozygous 940 bp Deletion in the ...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Liu Keqiang Tian Xinlun Li Xue Xu Kaifeng Liu Yaping Zhang Xue McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences & Peking Union Medical College Department of Respiratory Medicine Peking Union Medical College Hospital

Objective Cystic fibrosis（CF） is the most frequent severe autosomal recessive disease among C aucasians, but relatively rare in Asian populations. A 16-year-old Chinese CF patient was enrolle d in this study to make genetic diagnosis and analysis, whose sweat chloride value was 104 mmo l/L. Method Exon sequencing, multiplex ligation-dependent probe amplification（MLPA） and real-time quantitative PCR analyses of CFTR were employed to make a molecular diagnosis of the patient. The rearrangement junctions were accurately annotated by long PCR. Homozygosity mapping of CFTR was performed applying neighboring single nucleotide polymorphisms（SNPs） genotyping and whole genome SNP microarray（Affymetrix 6.0）. Potential secondary structure internal to thetwo breakpoints was predicted using RNA structure Web Servers（http://***/R NAstructure Web/）. Result The patient carried a homozygous deletion of 940 bp involving exon 20 of CFTR, which w as detected by MLPA and verified by quantitative PCR of genomic DNA. Molecular characterizati on of the rearrangement breakpoints indicated that both alleles of the patients had an identical co mplex c.3140-454.3367+259 delins（p.R10481123 del） mutation. Within a region of about 1 M b centered by CFTR, six common SNPs with high allele frequency were genotyped and the result s showed that all six SNPs were homozygous. Subsequently, whole genome homozygosity mapp ing showed a single homozygous interval stretching over 14 Mb on patient‘s chromosome 7, cove ring the CFTR gene. Other than that, there were no much more homozygous intervals compared t o general population, which didn‘t support the hypothesis of its possible origin from consanguineo us mating, but rather indicated that the two identical deletions from paternal and maternal chromo somes were caused by independent events. Computer analysis of the deleted sequence revealed a "pan-handle" secondary structure: the sequences immediately external to the breakpoints form ed

关键词： Identification of A Novel Homozygous 940 bp Deletion in the CFTR Gene in A Chinese Cystic Fibrosis Patient

来源：评论

学校读者我要写书评

暂无评论

17p13.3 microduplication in a Chinese family with split-hand/foot malformation

17p13.3 microduplication in a Chinese family with split-hand...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Shen Yuqi Si Nuo Meng Xiaolu Liu Fang Zhang Ying Zhang Xue Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College Department of Obstetrics and Gynecology General Hospital of Tianjin Medical University

Objective Background Split-hand/foot malformation, affecting 1 in 8,500-25,000 newborns, is a developmental limb malformation characterized by median clefts of the hands and feet, syndactyly, and aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. It‘s extremely complex on account of its variable expressivity, imcomplete penetrance, and heterogeneous background. To date, six responsible genes/loci（SHFM1-6） have been identified in isolated SHFM, while seve ral loci and genomic rearrangements were reported to be associated with other types, such as SH FM with long bone deficiency（SHFLD）. Objective To identify the pathogenic gene mutations or genomic rearrangements in a Chinese fa mily with split hand/foot malformation（SHFM）. Method Methods A four-generation Chinese family with split hand/foot malformation was recruite d from Tianjing province. Genomic DNA of family members were extracted from peripheral blood. Linkage analysis and direct sequencing of candidate genes were used to exclude six responsible genes/loci for isolated SHFM. Array CGH（Agilent Sure Print G3 Human CGH Microarray 2 x400 K） was performed to detect copy number variations in a genome-scale, and quantitative real-time P CR（q PCR） assays were designed in the BHLHA9 to validate the identified copy number variation in the index and other family members. Result Results No mutations in responsible genes or loci linked to isolated SHFM were found. A 80 kb duplication containing BHLHA9 on the chromosome 17 p13.3 was identified by array CG H in the index patient presented with SHFLD. The q PCR assays confirmed the duplication of BHL HA9 in all available affected family members and co-segregation with malformation in the family. Conclusion Conclusions The 80 kb duplication involving the BHLHA9 on the chromosome 17 p13.3 is associated with split-hand/foot malformation and long-bone deficiency in the present family.

关键词： microduplication in a Chinese family with split-hand/foot malformation

来源：评论

学校读者我要写书评

暂无评论

HES1 accelerated cell apoptosis in Doxorubicin induce DNA damage

HES1 accelerated cell apoptosis in Doxorubicin induce DNA da...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Huang Zixin Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University

Objective Notch pathway plays an important role in multiple cell physiological processes, includin g cell differentiation, proliferation, apoptosis and DNA damage respond. As a DNA-binding-depen dent transcriptional repressor of Notch pathway, it has not been determined whether HES1 affect s DNA damage. In this study, we investigated the effect of HES1 in Doxorubicin induce DNA dam age. Method 1. Used Doxorubicin treated the HES1 knockdown and over-expression cell lines.2. Mea sured the apoptotic cells flow cytometry.3. Used Doxorubicin and PARP1 inhibitor co-treated the cells,and measured the cell apoptosis. 4. Immunofluorescence experiment identify the transloca tion of AIF.5. RT-PCR and western blot used to measure the MDM2 p53 m RNA and protein level s.6. p53 inhibitor(Pifithrin-α) and Doxorubicin co-treated the cells,and measured the cell apopto sis.7. Knockdown PTEN in the cells and used Doxorubicin treated the HES1 knockdown and over-expression cell lines. Then measured the apoptotic cells flow cytometry. Result We found that HES1 could promotes cell apoptosis after Doxorubicin treated. When used Doxorubicin and PARP1 inhibitor(Rucaparib) co-treated the cells, we found that HES1 may prom ote translocation of AIF to the nucleus via activating PAR. Besides, the m RNA analysis and weste rn blot shown that the knockdown HES1 promoted the expression of p53 and decreased MDM2 m RNA levels, particularly treatment with Doxorubicin. Next we used p53 inhibitor(Pifithrin-α) and Doxorubicin co-treated the cells. And we found that HES1 could reduce the expression of p53 to i ncrease cell apoptotic in He La S3 cell line. Finally, we treated PTEN knockdown cell lines with Do xorubicin, and found that HES1 participating DNA damage did not via mediating the expression of PTEN. Conclusion Thus, our data provide the first evidence that HES1 could accelerate cell apoptosis v ia the directly regulation of p53 and PARP1 apoptosis pathway in Doxorubicin induced DNA dam age.

关键词： apoptosis HES1 accelerated cell apoptosis in Doxorubicin induce DNA damage DNA

来源：评论

学校读者我要写书评

暂无评论

CYB5D2 is novel tumor suppressor for clear cell renal cell carcinoma(cc RCC)

CYB5D2 is novel tumor suppressor for clear cell renal cell c...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： wei fengxiang tang damu The Genetics Laboratory Maternity and Child Healthcare Hospital Longgang District

Objective Objectives-Clear cell renal cell carcinoma(cc RCC) is the most common and the most aggressive type of kidney cancer. The disease is thus the major cause of death associated with kidney cancer. Currently, treatment options for metastatic cc RCC are limited and ineffective, which is in a large part attributed to our incomplete understanding cc RCC pathogenesis. We have recently identified a novel tumor suppressor CYB5 D2 of cervical cancer(Biochimica et Biophysica Acta 1862, 556-565, 2016). In this investigation, we will determine if CYB5 D2 also suppresses cc RCC tumorigenesis using both in vitro and in vivo systems. Method Materials and Methods-CYB5 D2 was overexpressed in a commonly used cc RCC cell line, A498. The impact of CYB5 D2 expression on A498 cell‘s proliferation and invasion ability was determined. Whether CYB5 D2 represses A498 cell‘s ability to form xenograft tumors in NOD/SCID mice was also examined. We also investigated the underlying mechanisms responsible for CYB5 D2-mediated suppression of cc RCC tumorigenesis. Result Results – We have established A498 lines stable expression of either empty vector(EV) or CYB5 D2. In comparison to EV cells, CYB5 D2 overexpression slightly reduced A498 cell proliferation, and significantly repressed A498 cell‘s invasion ability. In accordance with cell‘s invasion capacity in vitro being tightly associated with their ability of tumor formation in vivo, we were able to demonstrate that all 4 NOD/SCID mice(100%) implanted with A498 EV cells formed tumors, while 2 out of 4(50%) NOD/SCID mice injected with A498 CYB5 D2 cells yielded xenograft tumors. Furthermore, tumors produced by A498 EV cells were significantly larger than two tumors generated by A498 CYB5 D2 cells. In supporting AKT activation being a major mechanism promoting tumorigenesis, we observed that in comparison to A498 EV cells, A498 CYB5 D2 cells displayed a significant lower level of AKT phosphorylation at S473, indicative a reduction in AKT ac

关键词： NOD CYB5D2 is novel tumor suppressor for clear cell renal cell carcinoma cc RCC

来源：评论

学校读者我要写书评

暂无评论

Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy

Associations of 6p21.3 Region with Age-related Macular Degen...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Ye Zimeng Gong Bo Shuai Ping Yang Zhenglin Shi Yi Sichuan Provincial Key Laboratory for Human Disease Gene Study Sichuan Provincial People's Hospital

Objective Neovascular age-related macular degeneration(AMD) and polypoidal choroidal vasculopathy(PCV) are leading causes of visual loss and legal blindness among the elderly people in both Eastern and Western populations. It remains controversial as to whether PCV is a subtype of AMD or a separate disease entity. This study was conducted to investigate the associations of the CFBSKIV2 L-TNXB-FKBPL-NOTCH4 region with neovascular AMD and PCV, and to seek for genetic factors that may reveal different underlying pathogenic mechanisms between these two retinal disorders. Method A total number of 490 neovascular AMD patients, 419 PCV patients and 1316 normal matched controls were recruited. Six single nucleotide polymorphisms(SNPs) in the CFBSKIV2 L-TNXB-FKBPL-NOTCH4 region, including rs541862 in CFB(complement factor B), rs429608 in SKIV2 L(superkiller viralicidic activity 2-like), rs12153855 in TNXB(tenascin XB), rs9391734 in FKBPL(FK506 binding protein like), rs2071277 and rs3132946 in NOTCH4 were chosen. And two known AMD-associated SNPs, rs800292 in CFH(complementary factor H) and rs11200638 in HTRA1(high temperature required factor A1) were also included. The selected SNPs were genotyped in all study participants using SNa Pshot method(Applied Biosystems, ABI, Foster City, CA) and tested for associations with both neovascular AMD and PCV. Result The SKIV2 L variant rs429608, TNXB variant rs12153855 and FKBPL variant rs9391734 were significantly associated with neovascular AMD(P=2.2×10-4, OR=0.49;P=2.8×10-4, OR=1.80;P=0.001, OR=1.76, respectively). Furthermore, for rs429608 in AMD, statistically significant associations were detected under hetero(P= 0.002, OR= 0.54, 95%CI 0.37-0.79) and dominant(P=0.001, OR= 0.52, 95%CI 0.35-0.75) models, suggesting subjects carrying rs429608 AA and AG genotypes were less likely to suffer from neovascular AMD than those carrying GG. For rs12152855 and rs9391734 in AMD, significant associations were revealed under hetero(P=0.001, OR=

关键词： AMD PCV Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy

来源：评论

学校读者我要写书评

暂无评论

Exome sequencing identifies de-novo DYNC1H1 mutations associated with distal spinal muscular atrophy and malformations of cortical development

Exome sequencing identifies de-novo DYNC1H1 mutations associ...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Chen Yulin Xu Yufei Li Guoqiang Li Niu Yu Tingting Yao Ru-en Wang Xiumin Yiping Shen Wang Jian Institute of Pediatric Translational Medicine Shanghai Children's Medical Center Shanghai Jiaotong University School of Medicine Department of Laboratory Medicine Boston Children's Hospital

Objective To identify the genes and mutations responsible for spinal muscular atrophy with lower extremity predominance(SMA-LED) and malformations of cortical development(MCD). Method We described a 16-month old girl with SMA-LED and a 13-month old girl with MCD. Clini cal and laboratory investigation data including medical history, physical examinations, imaging ex aminations such as the magnetic resonance imaging(MRI) of the brain and the X-ray of the spine and extremities, motor nerve conduction velocity(MCV) analysis and so on were collected and a nalyzed for the two patients. Exome sequencing of the affected patients was performed. The seq uencing data was run on the Next GENe? and the results were uploaded to the online variation a nnotation tool Ingenuity? Variant Analysis?(IPA) for the mutation interpretations. The potential m utations analyzed and filtered by IPA were validated by Sanger sequencing. Several prediction so ftwares such as Poly Phen-2, SIFT, Mutation Assessor, PROVEAN, Mutation Taster were utilized f or the pathogenicity of the validated mutations. Result Exome sequencing identified a novel de-novo heterozygous missense mutation c.3395 G>A(***1132 Glu) in the patient with SMA-LED and a previously reported de-novo heterozygou s missense mutation c.10151 G>A(***3384 Gln) in the MCD patient. Both of the two mutationswere located in the DYNC1 H1 gene. Sanger sequencing validated and confirmed the mutations d e-novo occurred, in which neither maternal nor paternal inheritance could be established. Bioinfor matics predictions for c.3395 G>A and c.10151 G>A and the conversation analysis of the substitut ed amino acids indicated pathogenicity of the mutations. Conclusion We demonstrated that mutations in the tail domain of the DYNC1 H1 protein cause SMA-LED and the mutation in the motor domain of the same protein lead to MCD. DYNC1 H1 is a provital component of cytoplasmic dynein complex, which is a microtubule-related motor involve d in retrograd

关键词： LED SMA Exome sequencing identifies de-novo DYNC1H1 mutations associated with distal spinal muscular atrophy and malformations of cortical development

来源：评论

学校读者我要写书评

暂无评论

The function of Dennd1a in the development of mouse neural tube.

The function of Dennd1a in the development of mouse neural t...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Chen Shuxia Yang Xueyan Zheng Yufang Wang Hongyan The State Key Laboratory of Genetic Engineering and Ministry of Education (MOE)Key Laboratory of Contemporary Anthropology & The Collaborative Innovation Centre of Genetics and Development School of Life Sciences Fudan University Jiangwan Campus

Objective To study the molecular mechanism and function of Dennd1 a in the neural tube defects mouse model. Method A previous large forward screening by using piggy Bac(PB) insertion mouse models for n eural tube defects have revealed that Dennd1 a deficiency could cause mice NTDs. We used this mouse model to further investigate the molecular mechanisms of Dennd1 a in NTDs. The embryo s at E9.5-12.5 were collected and the phenotypes were recorded. Total m RNA was extracted fro m embryo tissues for both genotype confirmation and quantitative polymerase chain reaction(q-P CR) technology. Another set of embryos were used for whole-mount in situ hybridization(ISH) and RNA-seq. Result 1) By using primers spanning the PB insertion point(exon 3 to 5), the m RNA level of Den nd1 a followed the genotype pattern as wild type(WT)>heterozygote(HET)>homozygote(HOMO). The level of a downstream adjacent gene, Lhx2, also shows the downward trend as WT>HET>H OMO. However, q RT-PCR with primers on exon5-7 detected a short form at 3‘ region with the hig hest level of m RNA in HOMO embryos. 2)ISH: The WT embryos have strong signals in the forebr ain, midbrain and hindbrain. The Het and the Homo embryos showed stronger singles than WT a s our probes detect the increased short m RNA of Dennd1 a as the second pair of primers in q-PC R. The Het and Homo embryos also showed signals in the limb bud and spinal cord at tail region.3)RNA-seq: The expression level of total Dennd1 a is up-regulated in Group HOMO, while the Lhx2 is down-regulated. Conclusion 1) PB insertion on Dennd1 a gene caused the brain abnormity, neural tube defects e mbryos and lethality in mice embryos around E10.5. 2)PB insertion destroy the full-length Dennd1 a in mouse, which also had similar effect on Lhx2. 3) PB insertion may cause an alternative splici ng in Dennd1 a gene to induce a short form at 3‘ region.

关键词： The function of Dennd1a in the development of mouse neural tube ISH

来源：评论

学校读者我要写书评

暂无评论

Association study of Ankylosing Spondylitis and interaction between ERAP1 and ERAP2 gene in Han Chinese population

Association study of Ankylosing Spondylitis and interaction ...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Zheng Xuqi Li Qiuxia Wei Qiujing Wu Xinyu Gu Jieruo the Third Affiliated Hospital of Sun Yat-sen University

Objective Ankylosing Spondylitis（AS） is the prototype of spondyloarthritis and a highly heritable d isease. In all non-MHC susceptibility loci that have been reported, Endoplasmic Reticulum Amino peptidase 1（ERAP1） and Endoplasmic Reticulum Aminopeptidase（ERAP2） are one of those mo st functionally relevant susceptibility genes of AS which are involved in the process of antigen pre sentation. We aim to study the association between ERAP1 as well as ERAP2 and AS susceptibility in Chinese, especially coding variants, and to further investigate if there is a gene-gene interac tion between ERAP1 and ERAP2. Method 1837 Chinese AS patients fulfilling the 1984 Modified New York criteria and 4231 healthy controls were included after data quality control. All 8 genotyped single nucleotide polymorphism s（SNPs） in ERAP1 and 6 genotyped SNPs in ERAP2 were analyzed. Logistic regression analysi s is implemented in Plink（v1.07） using top 5 Principal Components from PCA as covariates. Linka ge Disequilibrium（LD） analysis and interaction analysis is perform in Haploview software and R s oftware（3.1.1）, respectively. Result（1）SNP rs42398, rs10050860（OR=0.72,P=2.5 E-3）, rs30187（OR=0.87,P=6.7 E-4）, rs27434 in ERAP1 are associated with AS. SNP rs10050860（MAF=0.043） has low frequency in Chinese while it is quite common in Caucasian（MAF=0.23 in 1000 Genome Project）, but showing the prot ective effect consistently. SNP rs4869315 is the only associated SNP in ERAP2 with AS, with the OR=0.89 and P value=0.007.（2） The pairwise LD plot through ERAP1 and ERAP2 region shows that rs42398, rs30187 and rs27434 are in high LD（D‘=0.99 and R2>0.9）, which indicates they are representing a the same signal. SNP rs10050860, rs4869315 are independent with the other ass ociated SNPs. For functional relevance, rs30187 and rs10050860 are coding variants as well as r elated with motif changing according to Haplo Reg tool, which are taken into subsequent analysis.（3）Gene-gene interaction analysis shows that rs30

关键词： Association study of Ankylosing Spondylitis and interaction between ERAP1 and ERAP2 gene in Han Chinese population

来源：评论

学校读者我要写书评

暂无评论

Association study of SLC6A2, SLC6A3, DRD2 polymorphisms and major depressive disorder in the Chinese Han population

Association study of SLC6A2, SLC6A3, DRD2 polymorphisms and ...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Bi Yan Huang Xiaoye Niu Weibo Chen Shiqing Wu Xi Cao Yanfei Zhang Rui Yang Fengping Wang Lu Li Weidong Xu Yifeng He Lin Yu Tao He Guang Li Xingwang Bio-X Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) Shanghai Jiao Tong University Shanghai Key Laboratory of Psychotic Disorders Shanghai Institute of Mental Health Shanghai Jiao Tong University Institutes of Biomedical Sciences Fudan University Institute for Nutritional Sciences Shanghai Institutes of Biological Sciences Chinese Academy of Sciences

Objective This study was performed to explore the association between the seven SNPs in dopa minergic and noradrenergic pathway genes(SLC6 A2, SLC6 A3 and DRD2) which related to tyrosi ne metabolism pathway and major depressive disorder in Chinese Han people. Method A SNP genotyping case-control study was carried out in a group of Chinese Han populati on including 568 patients with major depressive disorder and 846 healthy individuals. Moreover, we performed gene-gene interaction analysis and stratified analyses by gender and age. Result Rs2550956 showed significant difference in allelic(p=0.033367) and genotypic frequencie s(p=0.039538) between cases and control before correction. Maker rs1362621 and rs2242446 w ere in strong linkage disequilibrium(D′=0.97). For haplotype analysis, rs3863145-rs2550956(C-T) demonstrated statistical significant difference(p=0.029) between cases and controls. Statisticall y significant results were observed in SLC6 A2 and DRD2 for gene-gene interaction(p=0.0153). I n addition, rs1362621 was found to be prominently associated with MDD in the age-stratified anal ysis(codominant model: p=0.036;recessive model: p=0.010). Conclusion Our study suggests that single loci rs2550956, the haplotype of rs3863145-rs2550956 as well as the interaction of gene SLC6 A2 and DRD2 may play a role in major depressive disor der in Chinese Han population. Rs1362621 may be a risk mutation in the older subgroup of Chine se Han.

关键词： SLC6A3 DRD2 polymorphisms and major depressive disorder in the Chinese Han population Association study of SLC6A2

来源：评论

学校读者我要写书评

暂无评论

The SMN1 mutation c.22-23 insA (***8lysfs*23) Causes Spinal Muscular Atrophy by nonsense-mediated mRNA decay

The SMN1 mutation c.22-23 insA (***8lysfs*23) Causes Spinal ...

引用

中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Bai Jinli Qu Yujin Cao Yanyan Ge Lin Jin Yuwei Wang Hong Song Fang Capital Institute of Pediatrics

Objective The aim of this study is to investigate whether c.22-23 ins A mutation of SMN1 gene causing SMA by triggering nonsense-mediated m RNA decay(NMD). Method Two-stage validation of NMD mechanism was supplied in our study. We firstly measured changes in the transcript levels and SMN1 gene by real-time quantitative PCR after immortalized B-lymphoblasts of the SMA patient carrying c.22-23 ins A mutation were treated with the inhibitors of NMD pathway, including puromycin and cyclohemide. Next, lentivirus-mediated knock-down of the regulator of nonsense transcripts 1(UPF1) was performed in the fibroblasts of the patient to detect whether the mutation lead to NMD. In our experiments, SC35 1.7 Kb transcripts, a physiological NMD substrate was measured as a NMD positive gene. Result The two inhibitors result in a dramatic escalation of full-length SMN1(fl-SMN1) transcript levels. And SC35 1.7 kb m RNA level are also increased, which suggests that NMD pathway is suppressed by the two inhibitors. For puromycin and cycloheximide, the maximum increases of m RNA levels reach about 22-and 10-fold for SMN1, and about 9.6-and 7.9-fold for SC35 in immortalized B-lymphoblasts derived from the patient, respectively. Meanwhile, lentivirusmediated UPF1 knock-down lead to reduction of UPF1 protein level to 22.5% compared to the negative control lentivirus. And knockdown of UPF1 gene also promotes m RNA expression of SC35 gene and fl-SMN1 gene. The increases of SMN1 and SC35 m RNA levels reach about 4-and 7-fold in fibroblasts derived from the patient, respectively. Conclusion our study provides the first evidence that c.22-23 ins A mutation in SMN1 gene triggers NMD. The SMA pathogenesis in the patient is associated with m RNA degradation of SMN1, but not the truncated SMN protein.

关键词： SMN RNA NMD The SMN1 mutation c.22-23 insA p.Ser8lysfs*23 Causes Spinal Muscular Atrophy by nonsense-mediated mRNA decay

来源：评论

学校读者我要写书评

暂无评论

没有更多数据了...

全选清除本页清除全部题录导出标记到“检索档案”

共55页 << < 46 47 48 49 50 51 52 53 54 55 > >>

检索报告对象比较合并检索0

隐藏清空

合并搜索

回到顶部

执行限定条件

内容：

评分：

请选择保存的检索档案：

请选择收藏分类：

订阅名称：

通借通还

温馨提示：

图书名称：

借书校区：

取书校区：

手机号码：

邮箱地址：

一卡通帐号：

电话和邮箱必须正确填写，我们会与您联系确认。

联系人：

所在院系：

联系邮箱：

联系电话：

内蒙古自治区呼和浩特市赛罕区大学西街235号邮编: 010021

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：