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| 1 | Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn’s disease显示文摘AIM: To investigate the frequency of the common NOD2/CARD15 susceptibility variants and two functional polymorphisms of OCTN cation transporter genes in Hungarian pediatric patients with Crohn’s disease (CD). METHODS: A cohort of 19 unrelated pediatric and 55 unrelated adult patients with Crohn’s disease and 49 healthy controls were studied. Genotyping of the three common CD-associated CARD15 variants (Arg702Trp, Gly908Arg and 1007finsC changes) with the SLC22A4 1672C→T, and SLC22A5 -207G→C mutations was performed by direct sequencing of the specifi c regions of these genes.RESULTS: At least one CARD15 mutation was present in 52.6% of the children and in 34.5% of the adults compared to 14.3% in controls. Surprisingly, strongly different mutation profi le was detected in the pediatric versus adult patients. While the G908R and 1007finsC variants were 18.4% and 21.1% in the pediatric group, they were 1.82% and 11.8% in the adults, and were 1.02% and 3.06% in the controls, respectively. The R702W allele was increased approximately two-fold in the adult subjects, while in the pediatric group it was only approximately 64% of the controls (9.09% in the adults, 2.63% in pediatric patients, and 4.08% in the controls). No accumulation of the OCTN variants was observed in any patient group versus the controls.CONCLUSION: The frequency of the NOD2/CARD15 susceptibility variants in the Hungarian pediatric CD population is high and the profile differs from the adult CD patients, whereas the results for SLC22A4 and SLC22A5 mutation screening do not confirm the assumption that the carriage of these genotypes means an obligatory susceptibility to CD. | Judit Bene Lili Magyari Gábor Talián Katalin Komlósi Beáta Gasztonyi Beáta Tari gnes Várkonyi Gyula Mózsik Béla Melegh | 2006 | World Journal of Gastroenterology2006，12，34： | 6 |
| 2 | Incorporation of elemental sulphur in coal as organic sulphur显示文摘 | Casagrande D J and Lily N | 1979 | Nature1979，282，6： | 1 |
| 3 | Manu- {acturing o{ Cylindrical Gears by Generating Cut- ting Processes: A Critical Synthesis of Analysis Methods显示文摘 | Bouzaki K D Lili E Michailidis N | 2008 | CIRP Annals-manufacturing Tech- nology2008，57，2： | 1 |
| 4 | On the placement of web server replicas显示文摘 | Lili Q Padmanabhan V N Voelker G M | 2001 | Proc IEEE INFOCOM 20012001，，3： | 1 |
| 5 | Asymmetric Localization of a Mammalian Numb Homolog during Mouse Cortical Neurogenesis显示文摘 | Weimin Zhong John N Feder Ming-Ming Jiang Lily Yeh Jan Yuh Nung Jan | 1996 | Neuron1996，，： | 1 |
| 6 | A Modification to the NOAH LSM to Simulate Heat Mitigation Strategies in the New York City Metropolitan Area显示文摘 | Lynn Barry H Carlson Toby N Rosenzweig Cynthia Goldberg Richard Druyan Leonard Cox Jennifer Gaffin Stuart Parshall Lily Civerolo Kevin | 2009 | Journal of Applied Meteorology and Climatology2009，，2： | 1 |
| 7 | Regional or global WEEE recycling:where to go? 显示文摘 | LI Jinhui LOPEZ N B LIU Lili | 2013 | Waste Management2013，33，4： | 1 |
| 8 | Hearing loss and retarded cochlear development in mice lacking type 2 iodothyronine deiodinase显示文摘 | Lily N Goodyear R J Woods C A | 2004 | PlaZAS2004，101，10： | 1 |
| 9 | A Role for uric acid in the progression of renal disease 显示文摘 | Duk-Hee K Takahiko N Lili F | 2002 | Am Society Nephrolo2002，13，12： | 1 |
| 10 | A Trafficking Checkpoint Controls GABAB Receptor Heterodimerization 显示文摘 | Marta MM Yuh N J Lily YJ | 2000 | Neuron2000，27，： | 1 |
| 11 | On the placement of Web Server Replicas 显示文摘 | Qiu Lili Padmanabhan V N Voelker G M | 2001 | IEEE2001，3，2226： | 1 |
| 12 | Task force arrhythmias显示文摘 | ZIPES D P ACHEMAN M J LILI N | 2005 | J Am Coll Cardiol2005，45，1： | 1 |
| 13 | Isolation and characterisation of moderately halophilic bacterium Halomonas ventosae DL7 synthesizing Ectoine as compatible solute显示文摘 | Daochen Z Lili N Chenxiang W | 2007 | Annals of Microbiology2007，57，3： | 1 |
| 14 | Synthesis and antiparasitic activity of 1 H -benzimidazole derivatives显示文摘 | Juan Valdez Roberto Cedillo Alicia Hernández-Campos Lilián Yépez Francisco Hernández-Luis Gabriel Navarrete-Vázquez Amparo Tapia Rafael Cortés Manuel Hernández Rafael Castillo | 2002 | Bioorganic & Medicinal Chemistry Letters2002，，16： | 1 |
| 15 | On the Placement of Web Server Replicas显示文摘 | Lili Qiu V N Padmanabhan G M Voelker | 2001 | IEEE INFOCOM2001，，3： | 1 |
| 16 | Synthesis and antiparasitic activity of 2-(Trifluoromethyl)benzimidazole derivatives显示文摘 | Gabriel Navarrete-Vázquez Roberto Cedillo Alicia Hernández-Campos Lilián Yépez Francisco Hernández-Luis Juan Valdez Raúl Morales Rafael Cortés Manuel Hernández Rafael Castillo | 2001 | Bioorganic & Medicinal Chemistry Letters2001，，2： | 1 |
| 17 | Invivo somatic cell gene transfer of an engineered noggin mutein-prevents BMP-4 induced heterotopic ossification 显示文摘 | DAVID L GLASER ARIS N ECONOMIDES LILI WANG et ai | 2003 | J Bone JointSurg2003，85，： | 1 |
| 18 | Enhanced absorption of gra- phene with one-dimensional photonic crystal 显示文摘 | LILI J T LIU N H LI J | 2012 | Appl Phys Lett2012，101，5： | 1 |
| 19 | Manufacturing of cylindrical gears by generating cutting processes:A critical synthesis of analysis methods显示文摘 | BOUZAKIS K D LILI E MICHAILIDIS N | 2008 | CIRP Annals-Manufacturing Technology2008，57，2： | 1 |
| 20 | Control of photocu- rrent generation in polymer/ZnO nanorod solar cells by u- sing a solution-processed TiO2 overlayer显示文摘 | Atienzar P Ishwara T lily B N | 2010 | J Phys Chem Lett2010，1，4： | 1 |
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