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| 1 | 新致病基因在颅缝早闭Crouzon综合征中的初步机制研究显示文摘目的研究Rbp4(Retinol binding protein 4)、Gpc3(Glypican family of growth factor binding protein 3)、C1qtnf3(Collagenous repeat-containing sequence of 26 KDa protein)等新致病基因在颅缝早闭症中的发病机制,为疾病非手术治疗奠定理论基础。方法以Crouzon综合征Fgfr2cC342Y/+小鼠为实验模型,应用MicroCT和组织学染色,研究小鼠颅缝闭合模式;以Fgfr2cC342Y/+模型,RT-qPCR研究Rbp4、Gpc3、C1qtnf3等新致病基因的表达差异,初步探讨其在颅缝闭合过程中的调控作用;以体外培养的Fgfr2cC342Y/+小鼠颅缝细胞为模型,研究基因突变动物细胞增殖与代谢改变。结果获得Fgfr2cC342Y/+小鼠后额缝、冠状缝、人字缝、矢状缝等颅缝闭合模式,随颅骨发育、颅缝闭合,OC(Osteocalcin)、ALP(Alkalinephosphatase)表达增加,目的基因Rbp4、Gpc3、C1qtnf3表达下降,Msx2(Muscle segment homeobox gene 2)表达增加,杂合子与野生型小鼠之间均存在显著统计学差异,与前期人颅缝组织Microarray研究结果一致。Gpc1(Glypican family ofgrowth factor binding protein 1)、FliI(Flightless I)在颅缝闭合中的表达较恒定,野生型与杂合子之间未见明显统计学差异。体外培养Fgfr2cC342Y/+小鼠颅缝细胞,CellTiter96 MTS和Quant-iT Picogreen dsDNA细胞增殖与代谢分析结果显示,Fgfr2功能获得性突变可促进冠状缝细胞的增殖,从而导致成骨增加,颅缝早闭。结论 Fgfr2cC342Y/+模型新致病基因表达趋势与前期人颅缝组织Microarray研究结果一致,Rbp4、Gpc3、C1qtnf3可能在颅缝早闭中具重要调控作用。 | 杨娴娴 Jodie T Hatfield Susan J Hinze 穆雄铮 Peter J Anderson Barry C Powell | 2012 | 组织工程与重建外科杂志2012，8，5： | 3 |
| 2 | Sofosbuvir with pegylated interferon alfa-2a and ribavirin for treatment-naive patients with hepatitis C genotype-1 infection (ATOMIC): an open-label, randomised, multicentre phase 2 trial显示文摘 | Kris V Kowdley Eric Lawitz Israel Crespo Tarek Hassanein Mitchell N Davis Michael DeMicco David E Bernstein Nezam Afdhal John M Vierling Stuart C Gordon Jane K Anderson Robert H Hyland Hadas Dvory-Sobol Di An Robert G Hindes Efsevia Albanis William T Symo | 2013 | The Lancet2013，，9883： | 3 |
| 3 | A novel proteasome inhibitor NPI-0052 as an anticancer therapy显示文摘 | Chauhan D Hideshima T Anderson K C | 2006 | British J Cancer2006，95，8： | 1 |
| 4 | Scatterometer data inter- pretation: derivation of the transfer function CMOD4 显示文摘 | Stoffelen A C M Anderson D L T | 1997 | Journal of Geophysical Research1997，102，3： | 1 |
| 5 | Gastrointestinal microbial ecology and the safety of our food supply as related to Salmonella 显示文摘 | Callaway T R Edrington T S Anderson R C | 2008 | J Anim Sci2008，86，： | 1 |
| 6 | Biochar Induced Soil Microbial Community Change:Implications for Bioge- ochemical Cycling of Carbon, Nitrogen and Phosphorus 显示文摘 | ANDERSON C R CONDRON L M CLOUGH T J | 2011 | Pe- dobiologia2011，54，56： | 1 |
| 7 | Recovery of cryptogamic soil crusts from grazing on Utah winter ranges 显示文摘 | Anderson D C Haper K T Rushforth S R | 1982 | Journal of Range Management1982，35，： | 1 |
| 8 | Ethanol absorption across human skin measured by in vivomicrodialysis technique显示文摘 | Anderson C Andersson T MolanderM | 1991 | Acta Derm Venereol(Stockh)1991，71，： | 1 |
| 9 | Gastroin testinal microbial ecology and the safety of our food supply as re - lated to Salmonella 显示文摘 | Callaway T R Edrington T S Anderson R C | 2008 | J Anim Sci2008，86，： | 1 |
| 10 | Insulin-like growth factor I accelerates functional recovery from achilles tendoninjury in a rat model显示文摘 | Kurtz C A Loebig T G Anderson D D | 1999 | Am J Sports Med1999，27，3： | 1 |
| 11 | Novel' electrode materials for thin-film ultracapacitors: comparison of electrochemical properties of sol-gel-derived and electrodeposited manganese dioxide 显示文摘 | PANG S C ANDERSON M A CHAPMAN T W | 2000 | J Electrochem Soc2000，147，2： | 1 |
| 12 | Pathologieal laughing and crying; epidemiology,pathophysiology and treatment显示文摘 | Wortzel H S Oster T J Anderson C A | 2008 | CNS Drugs2008，22，7： | 1 |
| 13 | Effect of SiO2 on densification and microstructure development in Nd:YAG transparent ceramics 显示文摘 | STEVENSON A J LI Xin MART1NEZ M A ANDERSON J M SUCHY D L KUPP E R DICKEY1 Z C MUELLER K T MESSING G L | 2011 | J Am Ceram Soc2011，94，： | 1 |
| 14 | 显示文摘 | Anderson M A Pang S C Chapman T W | 2000 | J Electrochem Soc2000，147，2： | 1 |
| 15 | Analysis of a cAMP-responsive activator reveals a two-component mechanism for transcriptional induction via signal-dependent factors显示文摘 | Nakajima T Uchida C Anderson SF | 1997 | Genes Dev1997，11，： | 1 |
| 16 | Novel Electrode materials for thin-film ultracapacitors: I comparison of electro- chemical properties of sol-gel-derived and electrodeposited man- ganese dioxide 显示文摘 | PANG S C ANDERSON M A CHAPMAN T W | 2000 | Electrochem Soc2000，174，2： | 1 |
| 17 | Ethanol absorption across hu- man skin measured by in vivo microdialysis technique 显示文摘 | Anderson C Andersson T Molander M | 1991 | Acta Derm Venereol1991，71，5： | 1 |
| 18 | Johnny Walks to School: Does Jane? Sex Differences in Children's Active Travel to School显示文摘 | McMillan T Day K Boarnet M Alfonzo M Anderson C | 2006 | Child Youth Environment2006，16，1： | 1 |
| 19 | Homogenizing rhyolitic glass inclusions from the Bishop Tuff显示文摘 | Skirius C M Peterson J W Anderson A T JR | 1990 | Am Mineral1990，75，： | 1 |
| 20 | Adoles- cent patterns of physical activity differences by gender, day, and time of day 显示文摘 | JAGO R ANDERSON C B BARANOWSKI T | 2005 | Am J Prey Med2005，28，5： | 1 |
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