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Screening of GJB2 mutations in Chinese population

Journal of Otology 2007年第1期2卷 18-22页

作者： HAN Ming-kun1, HAN Dong-yi1, GUO Yu-fen2, LI Qing-zhong3, ZHAO Ya-li1, 4, RAO Shao-qi1, 5, 6, YUAN Hu1, ZONG Liang1, GUAN Jing2, XU Bai-cheng2, WANG Da-yong1, LAN lan1, WANG Qiu-ju1, 7 1 department of Otorhinolaryngology/ Head and Neck Surgery, and Institute of Otolaryngology, china People Liberation Army General Hospital, Beijing, china 2 department of Otorhinolaryngology/ Head and Neck Surgery, the Second Affiliated Hospital of LanZhou university, Lanzhou, china 3 Deparment of Otlolaryngology, Eye and ENT Hospital of Fudan university, Shanghai, china 4 department of Biochemistry and Molecular Biology, Institute of Basic medical Sciences, Chinese Academy of medical Sciences and Peking Union medical College, Beijing, china 5 departments of Cardiovascular Medicine and Molecular Cardiology, the Cleveland Clinic Foundation, Cleveland, Ohio, USA 6 department of bioinformatics, harbin medical university, harbin, china 7 china National Human Genome Center, Beijing, china department of Otorhinolaryngology/ Head and Neck Surgery and Institute of Otolaryngology China People Liberation Army General Hospital Beijing China department of Otorhinolaryngology/ Head and Neck Surgery the Second Affiliated Hospital of LanZhou University Lanzhou China Deparment of Otlolaryngology Eye and ENT Hospital of Fudan University Shanghai China department of Biochemistry and Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Beijing China departments of Cardiovascular Medicine and Molecular Cardiology the Cleveland Clinic Foundation Cleveland Ohio USA department of bioinformatics Harbin Medical University Harbin China china National Human Genome Center Beijing China

The GJB2 gene(connexin 26) has been shown to be responsible for DFNB1 and DFNA3. We screened the GJB2 gene in 488 patients with prelingual deafness(Group 1), 124 with postlingual deafness(Group 2), and 117 normal hearing subjects(Group 3). We found that, in Group 1, 65 patients(13.32%) were homozygotes or compound heterozygotes and 51 patients (10.45%) carried a single pathogenic mutation. The 235delC mutation was the most frequent mutation, accounting for 73.22% of the known pathogenic alleles in Group 1. No homozygotes or compound heterozygotes were detected in Group 2 or Group 3. Some postlingual deaf patients (2.42%) and normal hearing subjects(4.27%) were 235delC carriers. Our preliminary data indicate that 235delC, the most frequent mutation identified in this study, is a major cause for prelingual deafness.

关键词： prelingual deafness postlingual deafness, GJB2 235delC Chinese

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Experimental Study of Rat Beta Islet Cells Cultured under Simulated Microgravity Conditions

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Acta Biochimica et Biophysica Sinica 2004年第1期36卷 47-50页

作者： Chun SONG, Xiu-Qing DUAN, Xi LI, Li-Ou HAN, Ping XU, Chun-Fang SONG, and Lian-Hong JIN (Key Laboratory of Cell Transplantation of Ministry of Health, First Affiliated Hospital of harbin medical university, harbin 150001, china department of General Surgery, First Affiliated Hospital of harbin medical university, harbin 150001, china National Key Laboratory of harbin Veterinary Research Institute of Chinese Agriculture Academy, harbin 150001, china Tissue Engineering Research Center, Histology and Embryology Staff Room, harbin medical university, harbin 150086, china ) Key Laboratory of Cell Transplantation of Ministry of Health First Affiliated Hospital of Harbin Medical University Harbin 150001 China department of General Surgery First Affiliated Hospital of Harbin Medical University Harbin 150001 China National Key Laboratory of harbin Veterinary Research Institute of Chinese Agriculture Academy harbin 150001 China Tissue Engineering Research Center Histology and Embryology Staff Room Harbin Medical University Harbin 150086 China

To observe the effects of simulated microgravity on beta islet cell culture, we have compared the survival rates and the insulin levels of the isolated rat islet cells cultured at micro- and normal gravity conditions. The survival rates of the cells cultured were determined by acridine orange-propidium iodide double-staining on day 3, 7 and 14. The morphology of the cells was observed by electron microscopy. Insulin levels were measured by radio immuno assays. Our results show that the cell number cultured under the microgravity condition is significantly higher than that under the routine condition (P<0.01). Some tubular structure shown by transmission electron microscopy, possibly for the transport of nutrients, were formed intercellularly in the microgravity cultured group on day 7. There were also abundant secretion particles and mitochondria in the cytoplasm of the cells. Scanning electron microscopy showed that there were holes formed between each islet, possibly connecting with the nutrient trans

关键词： simulated microgravity islet cell electron microscopy radioimmunoassay

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Impaired PI3K/Akt signal pathway and hepatocellular injury in high-fat fed rats

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World Journal of Gastroenterology 2010年第48期16卷 6111-6118页

作者： Ji-Wu Han,department of Gastroenterology,The 4th Hospital of harbin medical university,harbin 150001,Heilongjiang Province,china Xiao-Rong Zhan,Xin-Yu Li,Bing Xia,Yue-Ying Wang,Jing Zhang,department of Endocrinology,First Hospital of harbin medical university,harbin 150001,Heilongjiang Province,china Bao-Xin Li,department of Pharmacology,State Key Laboratory of Biomedicine and Pharmacology,harbin medical university,harbin 150001,Heilongjiang Province,china department of Endocrinology First Hospital of Harbin Medical University Harbin 150001 Heilongjiang Province China. xiaorongzhan@***

AIM:To determine whether mitochondrial dysfunction resulting from high-fat diet is related to impairment of the phosphatidylinositol 3-kinase (PI3K)/protein kinase B (Akt,also known as PKB) pathway. METHODS:Rat models of nonalcoholic fatty liver were established by high-fat diet feeding. The expression of total and phosphorylated P13K and Akt proteins in hepatocytes was determined by Western blotting. Degree of fat accumulation in liver was measured by hepatic triglyceride. Mitochondrial number and size were determined using quantitative morphometric analysis under transmission electron microscope. The permeability of the outer mitochondrial membrane was assessed by determining the potential gradient across this ***:After Wistar rats were fed with high-fat diet for 16 wk,their hepatocytes displayed an accumulation of fat (103.1 ± 12.6 vs 421.5 ± 19.7,P 612% vs 249.121% ± 13.526%,P < 0.05). In addition,the expression of the phosphorylated P13K and Akt proteins in hepatocytes was reduced,as was the expression of the anti-apoptotic protein Bcl-2,while expression of the pro-apoptotic protein caspase-3 was increased. When animals were treated with pharmacological inhibitors of P13K or Akt,instead of high-fat diet,a similar pattern of hepatocellular fat accumulation,mitochondrial impairment,and change in the levels of PI3K,Akt,Bcl-2 was observed. CONCLUSION:High-fat diet appears to inhibit the PI3K/Akt signaling pathway,which may lead to hepa-tocellular injury through activation of the mitochondrial membrane pathway of apoptosis.

关键词： Nonalcoholic fatty liver Phosphatidylinositol 3-kinase/protein kinase B signaling pathway Mitochondria B-cell lymphoma gene 2 Caspase-3

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Interaction of cellular-localized signature modules in response to prostate cancer

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Progress in Natural Science:Materials International 2007年第11期17卷 1368-1375页

作者： Zhu Jing1, Guo Zheng1,2, Zhang Min2, Yang Da2, Wang Jing2 and Wang Chenguang2(1. School of Life Science and bioinformatics Centre, university of Electronic Science and Technology of china, Chengdu 610054, china 2. department of bioinformatics, Bio-Pharmaceutical Key Laboratory of Heilongjiang Province, harbin medical university, harbin 150081, china) School of Life Science and bioinformatics Centre University of Electronic Science and Technology of China Chengdu 610054 China department of bioinformatics Bio-Pharmaceutical Key Laboratory of Heilongjiang Province， Harbin Medical University， Harbin 150081 China

Rapid progress in high-throughput biotechnologies (e.g. microarrays) and exponential accumulation of gene functional knowledge makes it promising for systematic understanding of complex human diseases at the functional modules level. Current modular categorizations can be defined and selected more specifically and precisely in terms of both biological processes and cellular locations, aiming at uncovering the modular molecular networks highly relevant to cancers. Based on Gene Ontology, we identifed the functional modules enriched with differentially expressed genes and characterized by biological processes and specific cellular locations. Then, according to the ranking of the disease discriminating abilities of the pre-selected functional modules, we further defined and filtered signature modules which have higher relevance to the cancer under study. Applications of the proposed method to the analysis of a prostate cancer dataset revealed insightful biological modules.

关键词： microarray analysis Gene Ontology classification analysis cellular location functional module

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Cell cycle-dependent gene networks relevant to cancer

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Progress in Natural Science:Materials International 2008年第8期18卷 945-952页

作者： Yun Xiao a,1, Xia Lia,b,*,1, Yueying Yang a, Yadong Wangc, Shaoqi Rao a,b a College of bioinformatics Science and Technology, and Bio-pharmaceutical Key Laboratory of Heilongjiang Province and State, harbin medical university, harbin 150086, china b Biomedical Engineering Institute of Capital medical university, Beijing 10004, china c department of Computer Science, harbin Institute of Technology, harbin 150080, china College of bioinformatics Science and Technology and Bio-pharmaceutical Key Laboratory of Heilongjiang Province and State Harbin Medical University Harbin 150086 China Biomedical Engineering Institute of Capital medical university Beijing 10004 China department of Computer Science Harbin Institute of Technology Harbin 150080 China

The analysis of sophisticated interplays between cell cycle-dependent genes in a disease condition is one of the largely unexplored areas in modern tumor biology research. Many cell cycle-dependent genes are either oncogenes or suppressor genes, or are closely associated with the transition of a cell cycle. However, it is unclear how the complicated relationships between these cell cycle-dependent genes are, especially in cancers. Here, we sought to identify significant expression relationships between cell cycle-dependent genes by analyzing a HeLa microarray dataset using a local alignment algorithm and constructed a gene transcriptional network specific to the cancer by assembling these newly identified gene-gene relationships. We further characterized this global network by partitioning the whole network into several cell cycle phase-specific sub-networks. All generated networks exhibited the power-law node-degree distribution, and the average clustering coefficients of these networks were remarkably higher than those of pure scale-free networks, indicating a property of hierarchical modularity. Based on the known protein-protein interactions and Gene Ontology annotation data, the proteins encoded by cell cycle-dependent interacting genes tended to share the same biological functions or to be involved in the same biological processes, rather than interacting by physical means. Finally, we identified the hub genes related to cancer based on the topological importance that maintain the basic structure of cell cycle-dependent gene networks.

关键词： Cell cycle Microarray HeLa cell Gene network

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microRNA-181b targets MLK2 in HL-60 cells

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Science china(Life Sciences) 2010年第1期53卷 101-106页

作者： CHEN Hong1,CHEN Qun2,FANG Ming3 & MI Yan1 1 The First Affiliated Hospital of harbin medical university,harbin 150101,china 2 harbin Acheng District People’s Hospital,harbin 150300,china 3 Graduate department of harbin medical university,harbin 150001,china 1. The First Affiliated Hospital of harbin medical university Harbin 150101 China2. Harbin Acheng District People’s Hospital Harbin 150300 China3. Graduate department of Harbin Medical University Harbin 150001 China

microRNAs(miRNAs) play critical roles in many different cellular processes,including metabolism,apoptosis,differentiation and *** showed miR-181b to be highly expressed in acute myeloid leukemia(AML).Furthermore,miR-181b contributed to proliferation of AML cells by targeting *** results demonstrated that miR-181b plays an important role in the biology of AML and may be useful in developing therapies targeting miRNAs.

关键词： microRNA-181b MLK2 AML HL-60 proliferation apoptosis

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Changes in soluble interleukin-2 receptor level in serum and Na^+ -K^+ -exchanging ATPase activity in semen of infertile men caused by antisperm antibody

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Asian Journal of Andrology 2000年第2期2卷 151-153页

作者： Jiang NI Qing-Lei LI Wei ZHANG Jian-Song XIE Shu-Ling BIAN department of Physiology, harbin medical university, harbin 150086, china department of Physiology Harbin Medical University Chin

Aim: To explore the possible mechanisms of male infertility caused by antisperm antibody (AsAb). Methods: Thesoluble interleukin-2 receptor (sIL-2R) level in serum was analyzed by ELISA and Na^+ -K^+ -exchanging ATPase activi-ty in semen by phosphorus (Pi) assay. Results: The slL-2R level in serum was significantly higher and the Na^+ -K^+ -exchanging ATPase activity in semen significantly lower in AsAb positive infertile men when compared with thecontrols. Conclusion: The AsAb titer varies with the slL-2R level in serum. A decrease in Na^+ -K^+ -exchangingATPase activity in semen may play a role in male infertility caused by AsAb.

关键词： male infertility antisperm antibodies soluble interleukin-2 receptor Na^+-K^+-exchanging ATPase

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Genetic polymorphism and mRNA levels of cytochrome P450ⅡE1 and glutathione S-transferase P1 in patients with alcoholic liver disease in different nationalities

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Hepatobiliary & Pancreatic Diseases International 2009年第2期8卷 162-167页

作者： Ying Liu,Xiang-Wei Meng,Ling-Yun Zhou,Pei-Yi Zhang,Xun Sun and Ping Zhang department of Gastroenterology,First Affiliated Hospital,Jilin university,Changchun 130021,china department of Gastroenterology,Heilongjiang Province Hospital,harbin 150036,china department of medical Molecular Biology,harbin medical university,harbin 150086,china department of Gastroenterology First Affiliated Hospital Jilin University Changchun 130021 China.

BACKGROUND:Alcohol abuse and dependence are major factors in the pathogenesis of alcoholic liver disease(ALD).Alcohol abuse is becoming an increasingly severe problem among the Han,Mongol,and Korean nationalities in northeast *** study aimed to investigate the relationship between ALD and the genetic polymorphism and expression levels of two enzymes,cytochrome P450ⅡE1(CYPⅡE1)and glutathione S-transferase P1(GSTP1)in patients of three ***:Peripheral blood was collected from 353 Chinese patients with ALD,300 alcohol dependent patients without liver disease(alcoholic),and 360 healthy *** group included patients from the Han,Mongol and Korean ***-time polymerase chain reaction(PCR)and PCR-restriction fragment length polymorphism(PCR-RFLP)were ***:Regardless of nationality,patients who carried the rare CYPⅡE1 C2 and GSTP1 Val alleles were at higher risk of *** frequency of C2 and Val in patients with ALD was respectively 50.00%and 26.98%in the Han,31.36%and 22.87%in the Mongol,and 45.87%and 22.02% in the Korean *** significant differences were seen in the frequency of either C2 or Val alleles in ALD patients among the three *** each nationality,the frequency of both C2 and Val alleles was significantly higher in ALD compared to alcoholic and healthy *** for nationality,the average mRNA levels of CYPⅡ E1 in ALD patients and healthy controls were 10.05%and 2.21%,*** average mRNA levels of GSTP1 in ALD patients and healthy controls were 0.53%and 2.12%,*** mRNA level of CYPⅡE1 was higher,and that of GSTP1 was lower in patients with ALD compared to the ***:Except for nationality,patients with ALD in this series tended to have a higher mRNA expression of CYPⅡE1 and to carry the C2 allele,and tended to have a lower mRNA expression of GSTP1 and to carry the Val *** is a causal relationship between the polymorphic alleles,which lea

关键词： alcoholic liver disease alcoholic genetic polymorphism mRNA expression

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Decreases of voltage-dependent K~+ currents densities in ventricular myocytes of guinea pigs by chronic oxidant stress

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Acta Pharmacologica Sinica 2004年第6期25卷 49-53页

作者： De-li DONG, Yan LIU, Yu-hong ZHOU,Wei-hua SONG, He WANG, Bao-feng YANG2 department ofpharmacology, harbin medical university, harbin 150086, china department of pharmacology Harbin Medical University

AIM: To determine the changes of delayed rectifier K+ currents (Ik) and inward rectifier K+ currents (Ik1) in the ventricular myocytes of guinea pigs during the gradual apoptotic process by the chronic oxidant stress treatment. METHODS: H2O250 μmol/L (24 h) was used for inducing apoptosis in the cardiomyocytes culture of neonatal rats and to treat the isolated ventricular myocytes of adult guinea pigs in vitro for 24 h. Apoptosis was evaluated by TUNEL methods and voltage-dependent K+ currents were recorded by patch-clamp techniques. RESULTS: H2O2 50 μmol/L (24 h)induced cell apoptosis in the cardiomyocytes culture of neonatal rats. This concentration was used to treat the isolated ventricular myocytes of adult guinea pigs in vitro for 24 h and the voltage-dependent K+ currents densities (Ik, Ik1) were down-regulated. The densities of the delayed rectifier K+ currents (Ik) in 50 μmol/L H2O2 group were 2.52±0.57 pA/pF vs 5.73±1.84 pA/pF in the control group at +50 mV (n=8, P<0.01). The densities of the inward rectifier K+ currents (Ik1) in 50 μmol/L H2O2 group were -13.9± 2.70 pA/pF, 2.52±0.57 pA/pF vs -59.7±11.9 pA/pF, 5.73±1.84 pA/pF in the control group at -120 mV (n=8, P< 0.01) and -40 mV (n=8, P<0.05), respectively. The extent of inward rectifier property of Ik1 was weakened by 50 μmol/L H2O2treatment. CONCLUSION: The densities of Ik, Ik1 in the cardiomyocytes of guinea pigs were down- regulated and the inward rectifier property of Ik1 was weakened during the gradual apoptotic process after 50 μmol/L H2O2 treatment for 24 h.

关键词： hydrogen peroxide potassium apoptosis cardiac myocytes

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Ex vivo-expanded bone marrow stem cells home to the liver and ameliorate functional recovery in a mouse model of acute hepatic injury

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Hepatobiliary & Pancreatic Diseases International 2012年第1期11卷 66-73页

作者： Shi-Zhu Jin,Bing-Rong Liu,Jun Xu,Fu-Lai Gao,Zong-Jing Hu,Xin-Hong Wang,Feng-Hua Pei,Yu Hong,Hong-Yan Hu and Ming-Zi Han department of Gastroenterology and Hepatology,and department of Science Research Management,Second Affiliated Hospital,harbin medical university,harbin 150080,china department of Gastroenterology and Hepatology,Fourth Affiliated Hospital,harbin medical university,harbin 150001,china [a] department of Gastroenterology and Hepatology Second Affliated Hospital Harbin Medical University Harbin 150080 Harbin China [b] department of Science Research Management Second Affliated Hospital Harbin Medical University Harbin 150080 Harbin China [c] department of Gastroenterology and Hepatology Fourth Affliated Hospital Harbin Medical University Harbin 150001 Harbin China

BACKGROUND:Stem cell transplantation provides a theoretical approach for liver regeneration medicine;it may promote liver regeneration and ***,the transplantation of bone marrow-mesenchymal stem cells expanded ex vivo as a therapy for liver disease has rarely been *** study aimed to explore whether bone marrow stem cells expanded ex vivo home to the liver and foster hepatic recovery after CCl 4 ***:Bone marrow cells from BALB/c mice were expanded ex vivo by multiple-passage cultivation,characterized by cytoflow immunofluorescence,and pre-labeled with PKH26 before intravenous infusion into animals treated with CCl *** integration of bone marrow cells into the liver was examined microscopically,and plasma hepatic enzymes were determined ***:Cultured bone marrow cells exhibited antigenic profiles comparable to those of primary medullary stem *** immunofluorescence showed colocalization of these cells with proliferative activity and albumin expression in the liver of CCl 4 -treated *** showed increased in situ cell proliferation (50±14 vs 20±3 cells/high-power field,P<0.05) and albumin expression (149±25 vs 20±5 cells/high-power field,P<0.05) in the liver,as well as reduced serum aminotransferase levels (P<0.05) and better survival rates (P<0.05) in animals receiving cultured bone marrow cells relative to ***:Ex vivo-expanded bone marrow cells are capable of relocating to and proliferating in the chemically- injured *** of these pluripotent stem cells appears to improve serum indices of liver function and survival rate in mice after CCl4-induced hepatic damage.

关键词： stem cell therapy stem cell culture acute hepatic injury

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