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重大疾病相关基因的表达调控与发病机制的研究
  • 项目名称：重大疾病相关基因的表达调控与发病机制的研究
  • 项目类别：创新研究群体科学基金
  • 批准号：30721063
  • 申请代码：C05
  • 项目来源：国家自然科学基金
  • 研究期限：2008-01-01-2010-12-31
  • 项目负责人：刘德培
  • 负责人职称：研究员
  • 依托单位：中国医学科学院
  • 批准年度：2007
中文摘要：

本课题组以重大疾病发生、发展、转归过程分子机理为中心，对包括遗传病、肿瘤、感染性疾病、心血管疾病、糖尿病、神经精神疾病等在内的多种重大疾病易感基因和致病突变、分子病理做了系统筛选和分析。鉴定了V型并指/趾症相关HOXD13p.Q317R突变、Marie Unna稀毛症相关U2HR等突变及其致病机理。发现MR-1和IC53分别与心肌肥厚和单纯收缩期高血压发病相关，而A20, SIRT1和PON基因簇则起保护心肌、抑制动脉硬化和稳定斑块等保护性作用。课题组还建立了多种分析复杂疾病基因联合作用的多位点分析方法，在"病例－对照"组群样本中研究复杂疾病相关SNP和SNP单倍型及致病机理。分化发育失调是疾病的重要基础，我们对糖脂代谢、精子发生、造血分化等生理过程的遗传和表观遗传调控网络也做了较深入的工作。鉴定了多个具有重要生理功能的基因，为多种疾病治疗提供了靶标；对ncRNA和染色质高级构象做了较系统的研究，鉴定了多个与造血、肿瘤发生、糖尿病及肌肉发生相关miRNA和ncRNAs。并对以珠蛋白基因簇为代表的成簇基因高级染色质构象组织及功能有了较深入的认识。

中文主题词：
成果综合统计
成果类型
数量
  • 期刊论文
  • 会议论文
  • 专利
  • 获奖
  • 著作
  • 149
  • 0
  • 0
  • 4
  • 1
期刊论文
Localization and Mutation Detection for Paroxysmal Kinesigenic Choreoathetosis
Association between the γ-aminobutyric acid type B receptor 1 and 2 gene polymorphisms and mesial te
M129V polymorphism in the prion protein gene is not associated with mesial temporal lobe epilepsy in
Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromos
An intron polymorphism in the KIAA0350 gene is reproducibly associated with susceptibility to type 1
Apolipoprotein M promoter polymorphisms alter promoter activity and confer the susceptibility to the
Evidence of epistasis between catechol-O-methyltransferase gene andaldehyde dehydrogenase 3B1 gene i
Does the presenilin 2 gene predispose to schizophrenia
The combined effects of the 5-HTTLPR and 5-HTR1A genes 3 modulates the relationship between negative
A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal l
儿茶酚胺氧位甲基转移酶基因Ala22/72Ser多态性与精神分裂症的相关性及初步功能学解释
Jmjd3 activates Mash1 gene in RA-induced neuronal differentiation of P19 cells.
HDAC3 augments the autoregulation of neuroD gene in P19 cells.
An inhibitory role of p53 via NF-kappaB element on the cyclin D1 gene under heat shock.
Histone marks and chromatin remodelers on the regulation of neurogenin1 gene in RA induced neuronal
TGFBI deficiency predisposes mice to spontaneous tumor development.
组蛋白赖氨酸甲基转移酶Setd7促进Ngn1基因的表达.
稳定表达SirT7对其转染的P19细胞的增殖抑制作用.
热激诱导Jurkat细胞中主要组织相容性复合物II类转录激活因子基因和人白细胞抗原的表达
PIH1D1对染色质重塑复合物SNF5亚基的降解的影响.
一个人指环蛋白及其编码基因与应用
A Missense Mutation in the CHRM2 Gene Is Associated With Familial Dilated Cardiomyopathy.
A family- and population-based study of the UFD1L gene for schizophrenia.
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
Characterization of ST-4821 complex, a unique Neisseria meningitidis clone.
MicroRNA-128 inhibits glioma cells proliferation by targeting transcription actor E2F3a
DTNBP1 gene is associated with some symptom factors of schizophrenia in Chinese Han nationality.
脆性X智力低下蛋白的克隆表达与纯化
Improvement of SSO-mediated gene repair efficiency by nonspecific oligonucleotides.
RA诱导SH-SY5Y细胞分化中NEF3基因表达的调控.
A novel testis specific GTPase serves as a link to proteasome biogenesis: Functional characterizatio
Fank1 interacts with Jab1 and regulates cell apoptosis via the AP-1 pathway
Casein Kinase 1αInteracts with RIP1 and Regulates NF-κB Activation.
A novel method for high accuracy sumoylation site prediction from protein sequences.
BRI3 associates with SCG10 and attenuates NGF-induced neurite outgrowth in PC12 cells.
Role of acetylated p53 in regulating the expression of map2 in retinoic acid-induced P19 cells.
Ezh2在全反式维甲酸诱导的P19神经细胞分化过程中的作用.
Sirtuin 3, a new target of PGC-1alpha, plays an important role in the suppression of ROS and mitocho
FoxO1 represses LXRα-mediated transcriptional activity of SREBP-1c promoter in HepG2 cells.
PPARγ coactivator-1α coactivates steroidogenic factor 1 to stimulate the synthesis of luteinising ho
A novel member of the Rhomboid family, RHBDD1, regulates BIK-mediated apoptosis
Genome-wide distribution of histone H3 acetylation in all-trans retinoic acid induced neuronal diffe
Systematic identification and evolutionary features of rhesus monkey small nucleolar RNAs.
An update on gene therapy in China
An association study of the serotonin transporter and receptor genes with the suicidal ideation of m
RNF13 a novel RING-type ubiquityin ligase over-expressed in pancreatic cancer.
Involvement of the p65/RelA subunit of NF-kappaB in TNF-alpha-induced SIRT1 expression in vascular s
Positive Regulation of Hepatic miR-122 Expression by HNF4α
Sp1 is involved in 8-chloro-adenosine- upregulated death receptor 5 expression in human hepatoma cel
Alpha 1-antichymotrypsin/SerpinA3 is a novel target of orphan nuclear receptor Nur77
AAV-mediated TRAIL gene expression driven by hTERT promoter suppressed human hepatocellular carcinom
SATB1 regulates beta-like globin genes through matrix related nuclear relocation of the cluster.
Human paraoxonase gene cluster transgenic overexpression represses atherogenesis and promotes athero
Endothelium-specific overexpression of human IC53 downregulates endothelial nitric oxide synthase ac
Adeno-associated virus is a promising vector for therapeutic gene transfer
Proteomics-Based Identification of Differentially-Expressed Proteins Including Galectin-1 in the Blo
PGC-1αCoactivates Estrogen-Related Receptorαto Induce the Expression of Glucokinase
Tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) induces chemotactic migration
PGC-1α Enhances Anti-proliferative Activity of 5’-Deoxy-5-fluorouridine in Cancer Cells through Indu
Genetic variation and association analyses of the nuclear respiratory factor 1 (nRF1) gene in Chines
GAGA元件相关蛋白在人类细胞中对含有果蝇GAGA元件启动子的调控.
Gamma-secretase gene mutations in familial acne inversa.
Downstream of tyrosine kinase/docking protein 6, as a novel substrate of tropomyosin-related kinase
ShcD interacts with TrkB via its PTB and SH2 domains and regulates BDNF-induced MAPK activation.
A switch from hBrm to Brg1 at IFNγ-activated sequences mediates the activation of human genes.
Stat1 mediates an auto-regulation of hsp90β gene in heat shock response.
Cooperation between EZH2, NSPc1-mediated histone H2A ubiquitination and Dnmt1 in HOX gene silencing.
MicroRNA-21 down-regulates the expression of tumor suppressor PDCD4 in human glioblastoma cell T98G.
Dok-5 is involved in cardiomyocyte differentiation through PKB/FOXO3a pathway.
Association Analysis of CβS 844ins68 and MTHFD1 G1958A Polymorphisms with Alzheimer’s Disease in Chi
Identification of the trans-activation domain and the nuclear location signals of human zinc finger
Genetic association of the interaction between the BDNF and GSK3B genes and major depressive disorde
代谢型谷氨酸受体7基因的拷贝数变异与精神分裂症的相关性
单胺氧化酶A启动子可变数目重复序列多态性与中国北方汉族人群重性抑郁症的关联分析
MicroRNA-223 reversibly regulates erythroid and megakaryocytic differentiation of K562 cells
MicroRNAs are involved in erythroid differentiation control
The microRNAs involved in human myeloid differentiation and myelogenous/myeloblastic leukemia
CTD small phosphatase like 2 (CTDSPL2) can improve (- and (-globin gene expression in K562 cells and
Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer’s disease
Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysp
Systematic identification and characterization of chicken (Gallus gallus) ncRNAs.
The myostatin-induced E3 ubiquitin ligase RNF13 negatively regulates the proliferation of chicken my
Experimental Immunologic Infertility Effect of Anti-GAPDH-2 Antibodies on the Fertility of Female Mi
GC-1 mRHBDD1 knockdown spermatogonia cells lose their spermatogenic capacity in mouse seminiferous t
Regulation of the G2/M phase of the cell cycle by sperm associated antigen 8 (SPAG8) protein
Secretase Gene Mutations in Familial Acne Inversa
A cis-Phase Interaction Study of Genetic Variants Within the MAOA Gene in Major Depressive Disorder.
Analysis of association between the catechol-O-methyltransferase (COMT) gene and negative symptoms i
Association between the epidermal growth factor gene and intelligence in major depression patients.
Identification of FMRP-associated mRNAs using yeast three-hybrid system.
Hypoxic induction of human erythroid-specific delta-aminolevulinate synthase mediated by hypoxia-ind
Analysis of two sequence variants in peroxisome proliferator activated receptor gamma gene (PPARG) i
Disruption of Nectin-like 1 cell adhesion molecule leads to delayed axonal myelination in the CNS
Hypoxia-inducible factor 1-mediated regulation of PPP1R3C promotes glycogen accumulation in human MC
No association of the C>T polymorphism that is located 1385 upstream from initial code of fibroblast
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
Copy number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminali
Evaluation of the association between the PPARGC1A genetic polymorphisms and type 2 diabetes in Han
Association of NKG2D Genetic Polymorphism with Susceptibility to Chronic Hepatitis B in a Han Chines
A pharmacogenetic study of polymorphisms in interferon pathway genes and response to interferon-alph
Tumour necrosis factor-related apoptosis-inducing ligand (TRAIL)-induced chemokine release in both T
Nucleic acids in protein samples interfere with phosphopeptide identification by immobilized-metal-i
TRAIL receptor mediates inflammatory cytokine release in an NF-kappaB-dependent manner
An agonistic monoclonal antibody against DR5 induces ROS production, sustained JNK activation and En
Tax1 enhances cancer cell proliferation via Ras-Raf-MEK-ERK signaling pathway.
SIRT1 suppresses activator protein-1 transcriptional activity and cyclooxygenase-2 expression in mac
Association of NAD(P)H:quinone oxidoreductase 1 polymorphism and Alzheimer's disease in Chinese
Knockdown of c-FLIP(L) enhanced AD5-10 anti-death receptor 5 monoclonal antibody-induced apoptosis i
MafK/NF-E2 p18 is required for beta-globin genes activation by mediating the proximity of LCR and ac
Endothelium-specific overexpression of class III deacetylase SIRT1 decreases atherosclerosis in apol
Cluster specific regulation pattern of upstream regulatory elements in human alpha- and beta-globin
Targeting a novel N-terminal epitope of death receptor 5 triggers tumor cell death.
Sperm associated antigen 8 (SPAG8), a novel regulator of activator of CREM in testis during spermato
A novel testis protein RSB-66 interacting with INCA1 (inhibitor of Cdk interacting with cyclin A1)
Interaction of SH3P13 and DYDC1 Protein: A Germ Cell Component that Regulates Acrosome Biogenesis du
全反式维甲酸对SH-SY5Y细胞全基因组启动子区组蛋白H3乙酰化修饰的影响
热激诱导Jurkat细胞中主要组织相容性复合物Ⅱ类转录激活因子基因和人白细胞抗原的表达
GAGA元件相关蛋白在人类细胞中对含有果蝇GAGA元件启动子的调控
High-level expression, purification and characterization of codon-optimized recombinant hemagglutinin 5 proteins in mammalian cells
组蛋白赖氨酸甲基转移酶Setd7促进Ngn1基因的表达
稳定表达SirT7对其转染的P19细胞的增殖抑制作用
PIH1D1对染色质重塑复合物SNF5亚基降解的影响
Genome-wide distribution of histone H3 acetylation in all-trans retinoic acid induced neuronal differentiation of SH-SY5Y cells
Jumonji家族的无毛蛋白与毛发缺失
获奖
帕金森病和痴呆流行病学及干预、控制研究
细胞凋亡调控与肿瘤治疗研究
帕金森病和痴呆流行病学及干预、控制研究
细胞凋亡调控与肿瘤治疗研究
著作
淋巴细胞凋亡信号转导与调控
刘德培的项目
蛋白质修饰及降解与人类重大疾病
生物化学和分子生物学
发展一种修饰鼠基因组的新方法
发展一种修饰鼠基因组的新方法
2007年蛋白质修饰和降解北京国际研讨会
NSFC-SFI生物技术双边学术研讨会
基因表达的调控网络研究
期刊论文 53 会议论文 7
珠蛋白基因表达的时空顺序性研究
单链寡核苷酸介导的脱氧核糖核酸重组工程学
α与β珠蛋白基因簇表达的时空调控网络研究
期刊论文 31 会议论文 7 获奖 2
重大疾病相关基因的表达调控与发病机制的研究
期刊论文 96 会议论文 19 获奖 10