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| 1 | 钾通道J亚家族成员5基因嵌合导致双侧肾上腺皮质增生进而引起的早期原发性醛固酮增多症显示文摘钾通道J亚家族成员5(potassium voltage-gated channel subfamily J member 5,KCNJ5)的体细胞变异最易导致原发性醛固酮增多症(primary aldosteronism,PA),有部分患者因KCNJ5钾通道基因的生殖细胞突变而患该病[家族性醛固酮增多症Ⅲ型(familial hyperaldosteronismⅢ,FH-Ⅲ)]。方法:1998年,美国国立卫生研究院临床中心发现一名11岁的白人男孩,患有早期严重高血压。 | Maria AG Suzuki M Berthon A Kamilaris C Demidowich A Lack J Zilbermint M Hannah-Shmouni F Faucz FR Stratakis CA 周卫(译) 叶鹏(审校) | 2020 | 中华高血压杂志2020，28，12： | 2 |
| 2 | Interaction of the major inflammatory bowel disease susceptibility alleles in Crohn’s disease patients显示文摘AIM:To investigate the interaction of interleukin-23 receptor(IL23R)(rs1004819 and rs2201841),autophagy-related 16-like 1(ATG16L1)(rs2241880), caspase recruitment domain-containing protein 15 (CARD15)genes,and IBD5 locus in Crohn's disease(CD) patients. METHODS:A total of 315 unrelated subjects with CD and 314 healthy controls were genotyped.Interactions and specific genotype combinations of a total of eight variants were tested.The variants of IBD5locus(IGR2198a_1 rs11739135 and IGR2096a_1 rs12521868),CARD15(R702W rs2066845 and L1007fs rs2066847),ATG16L1(rs2241880)and IL23R (rs1004819,rs2201841)genes were genotyped by PCR-RFLP,the G908R(rs2066844)in CARD15 was determined by direct sequencing. RESULTS:The association of ATG16L1 T300A with CD was confirmed[P=0.004,odds ratio(OR)=1.69, 95%CI:1.19-2.41],and both IL23R variants were found to represent significant risk for the disease(P= 0.008,OR=2.05,95%CI:1.20-3.50 for rs1004819 AA;P<0.001,OR=2.97,95%CI:1.65-5.33 for rs2201841 CC).Logistic regression analysis of pairwise interaction of the inflammatory bowel disease (IBD)loci indicated that IL23R,ATG16L1,CARD15 and IBD5(IGR2198a_1)contribute independently to disease risk.We also analysed the specific combina- tions by pair of individual ATG16L1,IL23R rs1004819, rs2201841,IGR2198a_1,IGR2096a_1 and CARD15 genotypes for disease risk influence.In almost all cases,the combined risk of susceptibility pairs was higher in patients carrying two different risk-associated gene variants together than individuals with just one polymorphism.The highest OR was found for IL23R rs2201841 homozygous genotype with combination of positive CARD15 status(P<0.001,OR=9.15,95% CI:2.05-40.74). CONCLUSION:The present study suggests a cumulative effect of individual IBD susceptibility loci. | Veronika Csngei Luca Járomi EnikSáfrány Csilla Sipeky Lili Magyari Bernadett Faragó Judit Bene Noémi Polgár Lilla Lakner Patrícia Sarlós Márta Varga Béla Melegh | 2010 | World Journal of Gastroenterology2010，16，2： | 2 |
| 3 | Preparation ofporous polymer monoliths featuring enhanced surface cov-erage with gold nanoparticles显示文摘 | Lv Y Alejandro F M Fr^chet J M | 2012 | J Chromatogr A2012，1261，： | 1 |
| 4 | Funding systems for higher education and their impacts on institutional strategies and academia:A comparative perspective显示文摘 | Frlich N Schmidt E K Rosa M J | 2010 | International Journal of Educational Management2010，24，1： | 1 |
| 5 | Health risk assessment of dioxin emissions from municipal waste incinerators: the Neerlandquarter (Wilrijk, Belgium)显示文摘 | J Nouwen C Cornelis R De Fré M Wevers P Viaene C Mensink J Patyn L Verschaeve R Hooghe A Maes M Collier G Schoeters R Van Cleuvenbergen P Geuzens | 2001 | Chemosphere2001，，4： | 1 |
| 6 | Controlled/'living'radical polymerization with dendrimers containing stable radicals显示文摘 | Matyjaszewski K Shigemoto T Fréchet J M J | 1996 | Macromolec1996，29，： | 1 |
| 7 | Controlled free-radical polymerization显示文摘 | Bosman A W Fréchet J M J Hawker C J | 2001 | Polym Mater Sci Eng2001，84，： | 1 |
| 8 | Mesoporous titanosilicate molecular sieves prepared at ambient temperature by electrostatic (S^+ I^-, S^+X^-I^+) and neutral (S°I°) assembly pathways: a comparison of physical properties and catalytic activity for peroxide oxidations显示文摘 | Zhang W Zh Fr ba M Wang J L | 1996 | J Am Chem Soc1996，118，38： | 1 |
| 9 | Polymer-fullerene com-posite solar cells显示文摘 | Thompson B C Fré chet J M | | 0，，01： | 1 |
| 10 | Dendritic cells, pro-inflammatory responses, and antigen presentation in a rodent malaria infection显示文摘 | Langhorne J Albano FR Hensmann M | 2004 | Immunol Rev2004，201，： | 1 |
| 11 | An ecological study on dynamics of toxic Microcystis blooms in a eutrophic park pond, Wuhan, China | Cheng, K Zhao, YJ Xu, M Yin, J Xiong, Q Zhou, JC Wang, YZ Zhang, W Wang, JW Liu, ZY Wang, FR | 2002 | Progress in Natural Science:Materials International2002，12，1： | 1 |
| 12 | A standard numbering scheme for the class A β-lactamases显示文摘 | Ambler R P Coulson A F W Frére J M | 1991 | Biochem J1991，276，： | 1 |
| 13 | Surface activation of a polymer based carbon显示文摘 | Samant P V Goncalves F Freitas M M A Pereira M FR Figueiredo J L | 2004 | Carbon2004，42，： | 1 |
| 14 | Use of polarography as a quality-control method for determining diacetyl in citrus and vegetable juices,yoghurt and butter显示文摘 | Esteve M J Frígola A Rodrigo M C | 2002 | Food Additives and Contaminants2002，19，6： | 1 |
| 15 | Mesoporous Titanosilicate Molecular Sieves Prepared at Ambient Temperature by Electrostatic(S+I-,S+X-I+)and Neutral(S0I0)Assembly Pathways:A Comparison of Physical Properties and Catalytic Activity for Peroxide Oxidations显示文摘 | ZHANG W H FRBA M WANG J L | 1996 | Journal of the American Chemical Society1996，118，38： | 1 |
| 16 | Elevated expression of tumor necrosis factor_in cultured granulosa cells from women with endometriosis显示文摘 | Nejaty J Fr(o)ysa B | 2000 | Hum Reprod2000，15，6： | 1 |
| 17 | On the nonlineardeformations of thin unsymmetric 0/90composite plates underhygrothermal loads显示文摘 | Marco G Jerome M Frédéric J Alain V | 2006 | Composites Part A2006，37，4： | 1 |
| 18 | Organotypic hippocampal slice cultures for studies of brain damage, neuroprotection and neurorepair显示文摘 | Noraberg J Poulsen FR Blaabjerg M | 2005 | Curr Drug Targets CNS Neurol Disord2005，4，： | 1 |
| 19 | Histologic peripheral nerve changes in rats induced by deltamethrin 显示文摘 | Calore EE Cavaliere M J Puga FR | 2000 | Ecotoxicol Environ Saf2000，47，1： | 1 |
| 20 | Improvement in texture using calcium lactate and heat-shock treatments for stored ready-to-eat carrots 显示文摘 | D Rico A B Mart'n-Diana J M Fr'as | 2007 | Journal of Food Engineering2007，79，： | 1 |
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