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| 1 | Genetic Analysis of 17 Children with Hunter Syndrome:Identification and Functional Characterization of Four Novel Mutations in the Iduronate-2-Sulfatase Gene显示文摘Mucopolysaccharidosis type II(MPS II)is a rare X-linked disorder caused by alterations in the iduronate-2-sulfatase(IDS)gene.In this study,IDS activity in peripheral mononuclear blood monocytes(PMBCs)was measured with a fluorimetric enzyme assay.Urinary glycosaminoglycans(GAGs)were quantified using a colorimetric assay.All IDS exons and intronic flanks were bidirectionally sequenced.A total of 15 mutations(all exonic region)were found in 17 MPS II patients.In this cohort of MPS II patients,all alterations in the IDS gene were caused by point nucleotide substitutions or small deletions.Mutations p.Arg88His and p.Arg172*occurred twice.All mutations were inherited except for p.Gly489Alafs*7,a germline mutation.We found four new mutations(p.Ser142Phe,p.Arg233Gly,p.Glu430*,and p.Ile360Tyrfs*31).In Epstein-Barr virus(EBV)-immortalized PMBCs derived from the MPS II patients,no IDS protein was detected in case of the p.Ser142Phe and p.Ile360Tyrfs*31 mutants.For p.Arg233Gly and p.Glu430*,we observed a residual expression of IDS.The p.Arg233Gly and p.Glu430*mutants had a residuary enzymatic activity that was lowered by 14.3 and 76-fold,respectively,compared with healthy controls.This observation may help explain the mild disease phenotype in MPS II patients who had these two mutations whereas the p.Ser142Phe and p.Ile360Tyrfs*31 mutations caused the severe disease manifestation. | Dimitry A.Chistiakov Lyudmila M.Kuzenkova Kirill V.Savost’anov Anait K.Gevorkyan Alexander A.Pushkov Alexey G.Nikitin Nato D.Vashakmadze Natalia V.Zhurkova Tatiana V.Podkletnova Leila S.Namazova-Baranova Alexander A.Baranove | 2014 | Journal of Genetics and Genomics2014，41，4： | 2 |
| 2 | Role of preliminary etch- ing for one-step self-etch adhesives 显示文摘 | Taschner M Nato F Mazzoni A | 2010 | Eur J Oral Sci2010，118，5： | 1 |
| 3 | Multiple resolution textures analysis and classification 显示文摘 | PelegJ Nato R Harley R | 1985 | IEEE Trans on PAMI1985，6，4： | 1 |
| 4 | Chlorhexidine stabilizes the adhesive interface: a 2-year in vitro study显示文摘 | Breschi L Mazzoni A Nato F | 2010 | Dent Mater2010，26，4： | 1 |
| 5 | A multi- parameter approach for the study of in vitro photosynthesis显示文摘 | Rival AK Triques K Beule T Nato A Lavergne D Santamaria J VerdeilJL Hocher V Oropeza C and Hamon S | 1999 | Current Plant Sci Biotech Agric1999，36，： | 1 |
| 6 | Second line gemcitabine in refractory stage Ⅳ non-small call lung cancer:a phase Ⅱ trial显示文摘 | Gillenwater HH Tynan M Nato I S | 2000 | Clin Lung Cancer2000，2，2： | 1 |
| 7 | Tracking and Ignition Phenomena of Polyinyl Chloride Resin Under Wet Polluted Conditions显示文摘 | Nato F Kawamura K | 1978 | IEEE Transactions on Electrical Insulation1978，13，6： | 1 |
| 8 | Multiple resolution textu~s a- nalysis and classification 显示文摘 | Peleg J Nato R Harley R | 1984 | Pattern Analysis and Machine Intel- ligence1984，7，4： | 1 |
| 9 | Distribution of DMP-I and DSPP in human carious dentin:an immunohistochemical analysis显示文摘 | Alessandra Trire Viviana Salvatore Fernando Nato | 2011 | Italian Journal of A-natomy and Embryology2011，116，1： | 1 |
| 10 | 显示文摘 | Nato H Stakato | 1985 | Jpn J Appl Phys1985，24，： | 1 |
| 11 | One - step immunochromatographic dipstick tests for rapid detection of Vibrio cholerae O1 and O139 in stool samples 显示文摘 | Nato F Boutonnier A Rajerison M | 2003 | Clin Diagn Lab Immunol2003，10，3： | 1 |
| 12 | One-step immunochromatographic dip stick tests for rapid detection of Vibrio cholerae O1 andO139 in stool samples显示文摘 | Nato F Boutonnier A Rajerison M | 2003 | Clin Diagn Lab Immunol2003，10，3： | 1 |
| 13 | Analysis of differential artificial ageing of the adhesive interface produced by a two-step etch-and-rinse adhesive 显示文摘 | Saboia V Silva FCFA Nato F | 2009 | Eur J Oral Sci2009，117，5： | 1 |
| 14 | Founding Act on Mutual Relations,Cooperation and Security between the North Atlantic Treaty Organization and the Russian Federation显示文摘 | NATO | 1997 | NATO Review1997，45，4： | 1 |
| 15 | One-step immunochromatographic dipstick tests for rapid detection of Vibrio cholerae O1 and O139 in stool samples显示文摘 | Nato F Boutoanier A Rajerison M | 2003 | Clin Diagn tab Immunol2003，10，3： | 1 |
| 16 | Multiple resolution textures analysis and classification显示文摘 | PELEG J NATO R HARLEY R | 1985 | IEEE Trans on Pattern Analysis and Machine Intelligence1985，6，4： | 1 |
| 17 | Similar binding properties for a neutralizing anti-tetanus toxoid human monoclonal antibody and its bacterially expressed Fab 显示文摘 | Lafaye P Nato F Mazie JC | 1995 | Res in Immunol1995，146，6： | 1 |
| 18 | Evaluation of reference genes for quantitative reverse-transcription polymerase chain reaction normali- zation in infected tomato plants显示文摘 | TIZIANA M ELISA S IX)NATO G et at | 2010 | Molecular Plant Pathology2010，11，6： | 1 |
| 19 | Mutiple resolution textures analysis and classification显示文摘 | PELEG J NATO R HARLEY R | 1985 | IEEE Trans on PAMI1985，6，4： | 1 |
| 20 | Direct testing of blood cultures for detection of the serotype 5 and 8 capsular polysaccharides of Staphylococcus aureus显示文摘 | Boutonnier A Nato F Bouvet A | 1989 | J Clin Microbiol1989，27，5： | 1 |
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