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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 | Trehalose ameliorates dopaminergic and tau pathology in parkin deleted/tau overexpressing mice through autophagy activation显示文摘 | Jose A. Rodríguez-Navarro Laura Rodríguez María J. Casarejos Rosa M. Solano Ana Gómez Juan Perucho Ana María Cuervo Justo García de Yébenes María A. Mena | 2010 | Neurobiology of Disease2010，，3： | 2 |
| 3 | Proposal for the classifica- tion of acute leukemias: European group for the immunological characterization of leukemias显示文摘 | Bene MC Castoldi G Knappe W | 1995 | Leukemia1995，9，10： | 1 |
| 4 | Proposals for the immunological classification of acute leukemia显示文摘 | BENE M C CASTOLDI G KNAPP W | 1995 | Leukemia1995，9，： | 1 |
| 5 | Lifetime simulation and thermal characterization of PVC cable insulation materials显示文摘 | Benes M Placek V Matuschek G | 2005 | Journal of Thermal Analysis and Calorimetry2005，82，： | 1 |
| 6 | Proposals for the immunological classification of acute leukemia显示文摘 | Bene MC Castoldi G Knapp W | 1995 | Leukemia1995，9，： | 1 |
| 7 | Proposals for the immunological classification of acute leukemias 显示文摘 | Castoldi G Kanpp W | 1995 | Leukemia1995，9，10： | 1 |
| 8 | Proposals for the immunological classification of acute leukemias显示文摘 | Bene MC Castoldi G | 1995 | Leukemia1995，9，12： | 1 |
| 9 | Neutral search technique for short-term pump schedule optimization显示文摘 | BENE J G SELEK I HS C | 2010 | Water Resour Plng Mgmt2010，136，1： | 1 |
| 10 | Automatic extraction of manhattan-world building masses from 3D laser range scans显示文摘 | Vanegas C A Aliaga D G Benes B | 2012 | IEEE Transactions on Visualization and Computer Graphics2012，18，10： | 1 |
| 11 | Proposals for the immunological classification of acute leukemia 显示文摘 | Bene MC Castoldi G Knapp W | 1995 | Leukemia1995，9，10： | 1 |
| 12 | Proposals for the immunological classification of acute leukemias 显示文摘 | Castoldi G Knapp W | 1995 | Leukemia1995，9，： | 1 |
| 13 | The subcutaneous laterodigital reverse flap显示文摘 | Abbiati G Bene MD | 1998 | Plast Reconstr Surg1998，101，4： | 1 |
| 14 | The Polycystic Ovary Syndrome Health-Related Quality of Life Questionnaire(PCOSQ):a validation显示文摘 | Jones G L Benes K Clark T L | 2004 | Hum Reprod2004，19，2： | 1 |
| 15 | Proposals for the immunological classification of acute leukemias显示文摘 | Bene M C Castoldi G Knapp W | 1995 | Leukemia1995，9，10： | 1 |
| 16 | Expression of a novel form of the p56lck protooncogene in rat cerebellar granular neurons显示文摘 | Van Tan H Allee G Benes C | 1996 | J Neurochem1996，67，： | 1 |
| 17 | Proximal tubular transport and urinary excretion of sodium after renal denervation in sodium depleted rats显示文摘 | Gábor Szénási Pál Benesáth Lajos Takács Bozena Asztalos Mária Vedres | 1985 | Pflügers Archiv European Journal of Physiology1985，，2： | 1 |
| 18 | Thermal degradation of PVC cable insulation studied by simultaneous TG-FTIR and TG-EGA methods显示文摘 | Benes M Milanov N Matuschek G | 2004 | Journal of Thermal Analysis and Calorimetry2004，78，： | 1 |
| 19 | Automatic Extraction of Manhattan-World Building Masses from 3D Laser Range Scans显示文摘 | Carlos A Vanegas Daniel G Aliaga Bedrich Benes | 2012 | IEEE Trans on Visualization and Computer Graphics2012，18，10： | 1 |
| 20 | Fetal growth and maternal exposure to particulate matter during pregnancy显示文摘 | DEJMEK J SELEVAN S G BENES I | | 0，，06： | 1 |
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