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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 | Second hemorrhage in patients with splenic injuries 显示文摘 | Ste(anovic B Karamarkovic A Loncar Z | 2002 | Acta Chir Iugosl2002，49，3： | 1 |
| 3 | Wiskott - Aldrich Syndrome Protein is required for regulatory T cell homeostasis 显示文摘 | Humblet - Baron S Sather B Anover S | 2007 | J Clin Invest2007，117，2： | 1 |
| 4 | Disease-modifying proper- ties of long-term lithium treatment for amnestic mild cognitive im- paimlent :randomised controlled trial 显示文摘 | Forlenza OV Diniz BS Anovic M | 2011 | Br J Psychiatry2011，198，5： | 1 |
| 5 | Complex association analysis of Graves disease using a set of polymorphic markers 显示文摘 | Chistyakov D A Savost'anov K V Turakulov R I | 2000 | Mol Genet Metab2000，70，3： | 1 |
| 6 | Complex association analysis of Graves disease using a set of polymorphic markers显示文摘 | Chistyakov D A Savost' anov K V Turakulov R I | 2000 | Mol Genet Metab2000，70，： | 1 |
| 7 | Polymorphisms in the Mn-SOD and EC-SOD genes and their relationship to diabetic neuropathy in type 1 diabetes mellitus显示文摘 | Chistyakov DA Savost'anov KV Zotova EV | 2001 | BMC Med Genet2001，2，： | 1 |
| 8 | Intimal hyperplasia within a vascular anastomosis显示文摘 | KUR(I)ANOV P S RAZUVAEV A S VAVILOV V N | 2008 | Angiology and Vascular Surgery2008，14，4： | 1 |
| 9 | Evidence for a type 1 diabetes susceptibility locus (IDDM10) on chromosome 10p11-q11 in a Russian population显示文摘 | Chistiakov DA Seryogin Y Savost'anov KV | 2004 | Scand J Immunol2004，60，3： | 1 |
| 10 | Structure-kinetics relationships of thermodestruction of some framework nitramines显示文摘 | Step anov R S Kruglyakova L A | 2010 | Russ J Gen Chem2010，80，： | 1 |
| 11 | A new typel diabetes susceptibility locus containing the catalase gene (chromosome 11p13) in a Russian population 显示文摘 | Chistiakov DA Savost'anov KV Turakulov Rl | 2004 | Diabetes Metab Res Bey2004，20，3： | 1 |
| 12 | MIMO solution for performance improwmmnts of OFDM CDMA syslem wilh pilot tone显示文摘 | UROSEV1C U VELJOVIC Z P | 2013 | Wireless Networks2013，19，8： | 1 |
| 13 | NINO: An ultra-fast and low-power front-end amplifier/discriminator ASIC designed for the multigap resistive plate chamber显示文摘 | ANGHINOLFI F JARRON P MARTEMIY- ANOV A N | 2004 | Nuclear Instruments and Methods in Physics Research2004，533，： | 1 |
| 14 | Glycerol-treated nuclear suspensions: an efficient preservation method for flow cytometric analysis of plant samples 显示文摘 | Kol F Lu anov M Itel J | 2012 | Chromosome Research2012，20，： | 1 |
| 15 | Positive selection of T- lymphocytes induced by intrathymic injection of a thymic epithelial cell line显示文摘 | Vucm anovic S Grandea AG Faas S J | 1992 | Nature1992，359，6397： | 1 |
| 16 | Parameterisatinn of radiom:cli显示文摘 | BAKI ANOV A SORENSEN J H | 2001 | Physics and Chemistry of the Earth2001，26，10： | 1 |
| 17 | Radiosensitization of melanoma cells through combined inhibition of protein regulators of cell survival 显示文摘 | Johnson GE h anov VN Hei TK | 2008 | Apoptosis2008，13，6： | 1 |
| 18 | Deforma- tion behavior of ultra-fine-grained copper 显示文摘 | Val Iv E R Z Ko Z10v E V Iv Anov Y F | 1994 | Acta Matall1994，42，： | 1 |
| 19 | Self-assembled polyaniline 12-tungstophos-phate micro/nanostructures显示文摘 | Ciric-Marj anovic G Holclaj tner-Antunovic I Mentus S | | 0，，13： | 1 |
| 20 | Genetic determinants of Graves disease 显示文摘 | Chistyakov DA Savost' anov KV Turakulov RI | 2000 | Mol Genet Metab2000，71，12： | 1 |
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