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A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.
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  • 相关项目：重大疾病相关基因的表达调控与发病机制的研究
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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
期刊论文 149 获奖 4 著作 1
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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.
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