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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 | Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination显示文摘 | Kumar S Talis A L Howley P M | 1999 | J Biol Chem1999，274，18： | 1 |
| 3 | Neurosyphilis: MRI features and their phenotypic correlation in a cohort of 35 patients from a tertiary care universityhospital 显示文摘 | Nagappa M Sinha S Taly A B | 2013 | Neuroradiology2013，4，55： | 1 |
| 4 | Neurosyphilis: MRI features and their phenotypic correlation in a cohort of 35 patients from a tertiary care university hospital显示文摘 | Nagappa M Sinha S Taly AB | 2013 | Neuroradiology2013，55，4： | 1 |
| 5 | Myasthenia gravis in children: a longitudinal study 显示文摘 | Ashraf V V Taly A B Veerendrakumar M | 2006 | Acta Neurol Scand2006，114，2： | 1 |
| 6 | Accurate multiple sequence alignment of transmembrane proteins with PSI-Coffee 显示文摘 | CHANG J M DI TOMMASO P TALY J F | 2012 | BMC Bioinformatics2012，13，4： | 1 |
| 7 | Intrathecal gadolinium(gadopentetate dimeglumine)-enhanced MR cisternography used to determine potential communication between the cerebrospinal fluid pathways and intracranial arachnoid cysts显示文摘 | Tali ET Ercan N Kaymaz M | 2004 | Neuroradiology2004，46，9： | 1 |
| 8 | Lower limbs function and pain relationships af ter unilateral total knee arthroplasty显示文摘 | Tali M Maaroos J | 2010 | Int J Rahabil Res2010，33，： | 1 |
| 9 | Identificationandimportanceofbrownadiposetissueinadulthumans显示文摘 | CypessA M LehmanS WilliamsG TalI RodmanD GoldfineA B etal | 2009 | N EnglJMed2009，360，15： | 1 |
| 10 | Neurosyphilis:MRI features and their phenotypic correlation in a cohort of 35 patients from a tertiary care university hospital显示文摘 | Nagappa M Sinha S Taly AB | 2013 | Neuroradiology2013，55，4： | 1 |
| 11 | Myasthenia gravis in children: a longitudinal study显示文摘 | Ashraf VV Taly AB Veerendrakumar M | 2006 | Acta Neurol Scand2006，114，2： | 1 |
| 12 | Lower limbs function and pain relationships after unilateral total knee arthroplasty显示文摘 | Tali M Maaroos J | 2010 | Int J Rehabil Res2010，33，3： | 1 |
| 13 | Neurosyphilis: MRI features and their phenotypic correlation in a cohort of 35 patients from a tertiary care university hospital 显示文摘 | Nagappa M Sinha S Taly AB | 2013 | Neuroradiology2013，55，4： | 1 |
| 14 | Incidence of postoperative acute renal failure among violence-related cardiovascular trauma patients: a review of our experience in 117 cases 显示文摘 | Taly S Abanoz M Kaygin MA | 2010 | Ren Fail2010，32，4： | 1 |
| 15 | Myasthenia gravis in children : a longitudinal study 显示文摘 | Ashraff VV Taly AB Veerendrakumar M | 2006 | Acta Neurol Scand2006，114，： | 1 |
| 16 | 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 |
| 17 | The role of E6AP in the regulation of p53 protein levels in human papillomavirus(HPV)-positive and HPV-negative cells显示文摘 | TALIS A L HUIBREGTSE J M HOWLEY P M | 1998 | J Biol Chem1998，273，11： | 1 |
| 18 | Efficacy and Limitationsof Pulse Cyclophosphamide Therapy in Polymyositis andDermatomyositis 显示文摘 | Nagappa M Taly AB Sinha S | 2013 | J Clin Neuromuscular Disease2013，14，4： | 1 |
| 19 | Relationship Between Baseline Glycemic Control and Cognitive Function in Individuals With Type 2 Diabetes and Other Cardiovascular Risk Factors: The Action to Control Cardiovascular Risk in Diabetes-Memory in Diabetes (ACCORD-MIND) trial显示文摘 | Cukierman-Yaffe Tali Gerstein Hertzel C Williamson Jeff D Lazar Ronald M Lovato Laura Miller Michael E Coker Laura H Murray Anne Sullivan Mark D Marcovina Santica M Launer Lenore J | 2009 | Diabetes Care2009，，2： | 1 |
| 20 | Periodic lateralized epileptiform discharges in neurosyphilis显示文摘 | Noone M L Sinha S Taly A B | 2007 | Epilepsia2007，48，2： | 1 |
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