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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 | Application of the transversely heated graphite atomizer to the determination of trace metals in environmental and biomedical samples显示文摘 | G Bozsai M Melegh | 1995 | Microchemical Journal1995，51，： | 1 |
| 3 | Phenotypic manifestations of the OCTN2 V295X mutation:Sudden infant death and carnitine-responsive cardiomyopathy in Roma families显示文摘 | Melegh B Bene J Mogyorosy G | 2004 | Am J Med Genet2004，131，： | 1 |
| 4 | Effect of naloxone and D-Met-Pro-enkephalina-mide treatment on the synthesis in the developingrat brain显示文摘 | VERTES Z MELEGH G VERTES M | 1982 | Life Sci1982，31，： | 1 |
| 5 | Changes of plasma fasting carnitine ester profile in patients with ulcerative colitis显示文摘瞄准:与溃疡的 culitis (UC ) 并且与健康控制题目相比在成年病人决定血浆肉毒碱酉旨侧面。方法:用 ESI 三倍的四极双人脚踏车团分光术,肉毒碱酉旨侧面与 UC 和 44 匹配年龄、匹配性的健康控制在 44 个病人被测量。结果:在免费肉毒碱与 UC 和健康控制在病人之间铺平的 fasting 没有有效差量。禁食 propionyl-(0.331 +/- 0.019 对 0.392 +/- 0.017 micromol/L ) , butyryl-(0.219 +/- 0.014 对 0.265 +/- 0.012 ) ,并且 isovalerylcarnitine (0.111 +/- 0.008 对 0.134 +/- 0.008 ) 层次在 UC 病人被减少。由对比,octanoyl-的水平( 0.147 +/- 0.009 对 0.114 +/- 0.008 ),decanoyl-( 0.180 +/- 0.012 对 0.137 +/- 0.008 ),myristoyl-( 0.048 +/- 0.003 对 0.039 +/- 0.003 ),palmitoyl-( 0.128 +/- 0.006 对 0.109 +/- 0.004 ),palmitoleyl-( 0.042 +/- 0.003 对 0.031 +/- 0.002 )并且 oleylcarnitine ( 0.183 +/- 0.007 对 0.163 +/- 0.007 ;P <
0.05 在所有比较) 与 UC 在病人被增加。结论:我们的数据在 UC 病人建议肉毒碱酉旨的选择参与,可能由于他们的改变的新陈代谢。 | Judit Bene Katalin Komlósi Viktória Havasi Gábor Talián Beáta Gasztonyi Krisztina Horváth Gyula Mózsik Béla Hunyady Béla Melegh Mária Figler | 2006 | World Journal of Gastroenterology2006，12，1： | 1 |
| 6 | Mitochondrial DNA4977 deletion in brain of newborns died after intensive care显示文摘 | Nadasi EA Melegh B Seress L Kosztolanyi G | 2003 | Acta Biol Hung2003，54，34： | 1 |
| 7 | Urovysion:Considerations on modifying current evaluation scheme,including immunophenotypic targeting and locally set,statistically derived diagnostic criteria显示文摘 | Pajor G Somogyi L Melegh B | 2011 | Cytometry A2011，79，5： | 1 |
| 8 | Effect of naloxone and D-Met-Pro-enkephalinamide treatment on the systhesis in the developing rat brain显示文摘 | Vertes Z Melegh G Vertes M | 1982 | Life Sci1982，31，： | 1 |
| 9 | Prevalence of SLC22A4 1672T and SLC22A5 ?207C combination defined TC haplotype in Hungarian ulcerative colitis patients显示文摘 | Lili Magyari Judit Bene Katalin Komlósi Gábor Talián Bernadett Faragó Veronika Cs?ngei Luca Járomi Enik? Sáfrány Csilla Sipeky Lilla Lakner Márta Varga Beáta Gasztonyi Béla Melegh | 2007 | Pathology & Oncology Research2007，，1： | 1 |
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