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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 | Quantitative real-time RT- PCR-a perspective 显示文摘 | Bustin SA Benes V Nolan T | 2005 | Journal of Molecular Endocrinology2005，34，3： | 1 |
| 3 | The MIQE guide- lines: Minimum information for publication of quantita- tive real-time PCR experiments显示文摘 | Bustin S A Benes V Garson J A | 2009 | Clin Chem2009，55，4： | 1 |
| 4 | Cathepsin D- many functions of one aspartic protease显示文摘 | Benes P Vetvieka V Fusek M | 2008 | Crit Rev Oncol Hematol2008，68，1： | 1 |
| 5 | A sensitive array for microRNA expression profiling (miChip) based on locked nucleic acids (LNA)显示文摘 | SCHMIDT S BENES V | 2006 | RNA2006，12，： | 1 |
| 6 | Intracranial meningiomas;standard diagnostic procedure and results of surgical treatment显示文摘 | Kozler P Benes V Netuka D | | 0，，09： | 1 |
| 7 | Progressive lacunar stroke : Re- view of mechanisms, prognostic features, and putative treatments显示文摘 | Del Bene A Palumbo V Lamassa M | 2012 | Int JStroke2012，7，4： | 1 |
| 8 | Accuracy of angiography and Doppler ultrasonography in the detection of carotid stenosis:a histopathological study of 123 cases显示文摘 | Netuka D Benes V Mandys V | 2006 | Acta Neurochir(wien)2006，148，5： | 1 |
| 9 | A study of the mechanism of gas absorption into oil-water emulsions显示文摘 | LINEK V BENE?P | 1976 | Chemical Engineering Science1976，31，10： | 1 |
| 10 | Dynamics of gene expression revealed by comparison of serial analysis of gene expression transcript profiles from yeast grown on two different carbon sources 显示文摘 | Kal A J Van Zonneveld A J Benes V | 1999 | Mol Biol Cell1999，10，6： | 1 |
| 11 | Genomic locus and promoter region of rat Smad7,an important antagonist of TGF-beta signaling显示文摘 | Stopa M Benes V Ansorge W | 2000 | Mamm Genome2000，11，2： | 1 |
| 12 | Genomic locus and promoter region of rat Smad 7, an important antagonist of TGFbeta signalling显示文摘 | Stopa M Benes V Ansorge W | | 0，，： | 1 |
| 13 | 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 |
| 14 | Quantitative real-time RT-PCR a perspective显示文摘 | Bustin S A Benes V Nolan T Pfaffl M W | 2005 | Journal of Molecular Endocrinology2005，34，： | 1 |
| 15 | Strawberry vein banding virus -definitive member of the genus Caulimovirus显示文摘 | Petrzik K Benes V Mraz I | 1998 | Virus Genes1998，16，3： | 1 |
| 16 | Quantitative real-time RTPCR-a perspective显示文摘 | Bustin SA Benes V Nolan T | 2005 | J Mol Endocrinol2005，34，3： | 1 |
| 17 | Quantitative realtime RT-PCR-a perspective显示文摘 | BUSTIN S A BENES V NOLAN T | 2005 | Journal of Molecular Endocrinology2005，34，： | 1 |
| 18 | Modes of continental lithospheric extension: experimental verification of strain localization processes 显示文摘 | Benes V Davy P | 1996 | Tectonophysics1996，254，： | 1 |
| 19 | The MIQE guidelines: minimum information for publication of quantitative real-tlme PCR experiments 显示文摘 | Bustin S A Benes V Garson J A | 2009 | Clin Chem2009，55，4： | 1 |
| 20 | The MIQE guidelines:minimum information for publication of quantitative real-time PCR experiments显示文摘 | BUSTIN S A BENES V GARSON J A | 2009 | Clin Chem2009，55，4： | 1 |
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