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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 | Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet显示文摘AIM: To determine the fasting plasma carnitine ester in patients with celiac disease.METHODS: We determined the fasting plasma carnitine ester profile using ESI triple quadrupol mass spectrometry in 33 adult patients with biopsy-confirmed maturity onset celiac disease maintained on long term gluten free diet.RESULIS: The level of free camitine did not differ as the celiac disease patients were compared with the healthy controls, whereas the acetylcarnitine level was markedly reduced (4.703 ± 0.205 vs 10.227 ± 0.368 nmol/mL,P<0.01). The level of propionylcarnitine was 61.5%,butyrylcarnitine 56.9%, hexanoylcarnitine 75%,octanoylcarnitine 71.1%, octenoylcarnitine 52.1%,decanoylcarnitine 73.1%, cecenoylcarnitine 58.3%,lauroylcarnitine 61.5%, miristoylcarnitine 66.7%,miristoleylcarnitine 62.5% and oleylcarnitine 81.1%in the celiac disease patients compared to the control values, respectively (P<0.01).CONCLUSION: The marked decrease of circulating acetylcarnitine with 50-80 % decrease of 11 other carnitine esters shows that the carnitine ester metabolism can be influenced even in clinically asymptomatic and well being adult celiac disease patients, and gluten withdrawal alone does not necessarily normalize all elements of the disturbed carnitine homeostasis. | Judit Bene Katalin Komlósi Beáta Gasztonyi Márk Juhász Zsolt Tulassay Béla Melegh | 2005 | World Journal of Gastroenterology2005，11，42： | 5 |
| 3 | No association of the cytotoxic T-lymphocyte associated gene CTLA4 +49A/G polymorphisms with Crohn's disease and ulcerative colitis in Hungarian population samples显示文摘瞄准:当前的工作的目标细胞毒素的 T 淋巴细胞抗原是分析 +49A/G 的流行变体的在有 Crohn 的匈牙利病人的 4 基因(CTLA4 )?ˉs 疾病(CD ) 和 ulcerative (UC ) 。方法:有 CD 的 130 个无关的题目的一个总数并且 150 与 UC,和 170 匹配的控制是为单个核苷酸多型性(SNP ) 的 genotyped。遗传型被使用 PCR/RFLP 测试决定。结果:G 等位基因频率和 GG 遗传型的流行在 CD 组,是 38.1% 和 12.3%40.6% 和 18.6% 在 UC 病人,并且 37.4% 和 15.9% 在控制组分别地。结论:当前的学习的结果显示出 +49G SNP 的那辆马车在异质接合或不在匈牙利人口为 CD 或为 UC 在同型结合的形式授与风险任何一个。 | Lili Magyari Bernadett Faragó Judit Bene Katalin Horvatovich Lilla Lakner Márta Varga Mária Figler Beáta Gasztonyi Gyula Mózsik Béla Melegh | 2007 | World Journal of Gastroenterology2007，13，15： | 3 |
| 4 | 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 |
| 5 | The herpes simplex virus proeapsid: structure, conformational changes upon maturation, and roles of the triplex proteins VP19c and VP23 in assembly显示文摘 | Benes L T Frank P B William W | 1996 | J MoL BioL1996，263，： | 1 |
| 6 | Virtual Campeche: a Web Based Virtual Three-Dimensional Tour 显示文摘 | Zara J Benes B | 2004 | Computer Science2004，，19： | 1 |
| 7 | Facial aesthetics and theassignment of personality traits before and after orthognathicsurgery 显示文摘 | Sinko K Jagsch R Benes B | 2012 | Int J Oral Maxillofac Surg2012，41，4： | 1 |
| 8 | Quantized phonon spectrum of single-wall carbon nanotubes显示文摘 | Hone J Batlogg B Benes Z | 2000 | Science2000，289，5485： | 1 |
| 9 | The restructuring of muscarinic receptor subtype gene transcripts in c-fos knock-out mice 显示文摘 | Benes J Mravec B K vetnansky R | 2013 | Brain Res Bull2013，94，： | 1 |
| 10 | Blood and urinelevels of Pb, Cd and Hg in the general population o{ the Czech Republic and proposed reference values显示文摘 | Batdariovd A Spevdckov6 V Benes B eta | 2006 | Int J Hyg Environ Health2006，209，4： | 1 |
| 11 | Circuitry-based gene ex-pression profiles in GABA cells of the trisynaptie pathway inschizophrenic sversus bipolars显示文摘 | Benes FM Lim B Matzilevieh D | 2008 | Proc Natl Acad Sei USA2008，105，20： | 1 |
| 12 | Quantized phonon spectrum of single-wall carbon nanotubes 显示文摘 | Hone J Batlogg B Benes Z | 2000 | Science2000，289，： | 1 |
| 13 | Rapid-resolution HPLC with spectrometric detection for the determination and identification of isoflavones in soy preparations and plant extracts显示文摘 | Klejdus B Vacek J Beneová L | 2007 | Anal Bioanal Chen2007，389，75： | 1 |
| 14 | Long-term results of a randomized phase 3 trial comparing idarubicin and daunorubicin in younger patients with acute myeloid leukaemia显示文摘 | Recher C Bene MC Lioure B | 2014 | Leukemia2014，28，2： | 1 |
| 15 | 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 |
| 16 | Relationship between effective ionic dialysane and in vivo urea clearance during hemodialysis显示文摘 | Lindsay R Bene B Goux N | 2001 | Am J kidney Dis2001，38，3： | 1 |
| 17 | Blood and urine levels of Pb, Cd and Hg in the general population of the Czech Republic and proposed reference values显示文摘 | BATARIOVA A SPEVACKOVA V BENES B | 2006 | Int J Hyg Environ Health2006，209，4： | 1 |
| 18 | Quantized phonon spectrum of single-wall carbon nanotubes显示文摘 | Batlogg B Benes Z | 2000 | Science2000，289，： | 1 |
| 19 | Expression of SHV-2 beta-lactamase and of reduced amounts of OmpK36 porin in Klebsiella pneumoniae results in increased resistance to cephalosporins and carbapenems显示文摘 | Crowley B Benedí V J Doménech-Sánchez A | 2002 | Antimicrob Agents Chemother2002，46，： | 1 |
| 20 | Regional citrate anticoagulation during hemodialysis:a simplified procedure using Duocart biofiltration显示文摘 | RIDEL C MERCADAL L BENE B | 2005 | Blood Purif2005，23，6： | 1 |
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