المؤلفون: Soo-Youn Lee, Sohn Yb, Choi Ew, Yook Yj, Kim Sj, Chang-Seok Ki, Sunghee Yeau, Ah-Ra Ko, Jin Dk, Han Sj, Ji-Hae Kim, Park Sw, Kwon Ek, Chi Hwa Kim, Lee Sj

المصدر: Clinical Genetics. 81:185-190

مصطلحات موضوعية: Genetics, Mutation, Point mutation, Iduronate-2-sulfatase, Hunter syndrome, Iduronate Sulfatase, Biology, medicine.disease_cause, medicine.disease, Molecular biology, Phenotype, Asian People, Mutation Rate, Republic of Korea, Mutation testing, medicine, Humans, Missense mutation, Insertion, Mucopolysaccharidosis type II, Genetics (clinical), Mucopolysaccharidosis II

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7544c54f3df415445a1f97e5b7cba9d5
https://doi.org/10.1111/j.1399-0004.2011.01641.x

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المؤلفون: Lee SC; Heart, Vascular and Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Lee J; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Jin DK; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address: jindk@skku.edu., Kim JS; Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Jeon ES; Heart, Vascular and Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Kwun YH; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Chang MS; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea., Ko AR; Clinical Research Center, Samsung Biomedical Research Center, Seoul, Republic of Korea., Yook YJ; Clinical Research Center, Samsung Biomedical Research Center, Seoul, Republic of Korea., Sohn YB; Department of Medical Genetics, Ajou University School of Medicine, Suwon, Republic of Korea.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2014 Jul; Vol. 112 (3), pp. 218-23. Date of Electronic Publication: 2014 Apr 30.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Enzyme Replacement Therapy*, Cardiomyopathies/*drug therapy , Cardiomyopathies/*etiology , Iduronate Sulfatase/*therapeutic use , Mucopolysaccharidosis II/*complications , Mucopolysaccharidosis II/*drug therapy, Animals ; Cardiomyopathies/diagnosis ; Cardiomyopathies/physiopathology ; Disease Models, Animal ; Echocardiography ; Female ; Male ; Mice ; Mice, Knockout ; Treatment Outcome ; Ventricular Dysfunction, Left/drug therapy

المؤلفون: Chung YK; Department of Molecular Science and Technology, Ajou University, Suwon, South Korea., Sohn YB, Sohn JM, Lee J, Chang MS, Kwun Y, Kim CH, Lee JY, Yook YJ, Ko AR, Jin DK

المصدر: Glycoconjugate journal [Glycoconj J] 2014 May; Vol. 31 (4), pp. 309-15. Date of Electronic Publication: 2014 Apr 30.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 8603310 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4986 (Electronic) Linking ISSN: 02820080 NLM ISO Abbreviation: Glycoconj J Subsets: MEDLINE

مواضيع طبية MeSH: Iduronate Sulfatase/*chemistry, Alanine/analogs & derivatives ; Alanine/chemistry ; Animals ; CHO Cells ; Cricetinae ; Cricetulus ; Enzyme Replacement Therapy ; Fibroblasts/drug effects ; Glycine/analogs & derivatives ; Glycine/chemistry ; Humans ; Iduronate Sulfatase/pharmacology ; Iduronate Sulfatase/therapeutic use ; Mannosephosphates/chemistry ; Mucopolysaccharidosis II/therapy ; N-Acetylneuraminic Acid/chemistry ; Recombinant Fusion Proteins/chemistry ; Recombinant Fusion Proteins/pharmacology

المؤلفون: Song SA; Department of Biological Science, Sookmyung Women's University, Seoul, Republic of Korea., Yoo KH, Ko JY, Kim BH, Yook YJ, Park JH

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2012 Mar 16; Vol. 419 (3), pp. 459-65. Date of Electronic Publication: 2012 Feb 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation, Developmental* , Matrix Metalloproteinase Inhibitors*, Basic Helix-Loop-Helix Transcription Factors/*biosynthesis , Epithelial Cells/*physiology , Kidney Tubules/*growth & development , Organogenesis/*genetics , Tumor Suppressor Proteins/*biosynthesis, Animals ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Cell Culture Techniques ; Cell Line ; Epithelial Cells/metabolism ; Gene Silencing ; Kidney Tubules/cytology ; Kidney Tubules/metabolism ; Matrix Metalloproteinase 9/genetics ; Mice ; Tumor Suppressor Proteins/genetics

المؤلفون: Lee OJ; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea., Kim SJ, Sohn YB, Park HD, Lee SY, Kim CH, Ko AR, Yook YJ, Lee SJ, Park SW, Kim SH, Cho SY, Kwon EK, Han SJ, Jin DK

المصدر: Korean journal of pediatrics [Korean J Pediatr] 2012 Mar; Vol. 55 (3), pp. 88-92. Date of Electronic Publication: 2012 Mar 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Korean Pediatric Society Country of Publication: Korea (South) NLM ID: 101215374 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-7258 (Electronic) Linking ISSN: 17381061 NLM ISO Abbreviation: Korean J Pediatr Subsets: PubMed not MEDLINE

المؤلفون: Yook YJ; Department of Biological Science, Sookmyung Women's University, Seoul, Korea., Yoo KH, Song SA, Seo MJ, Ko JY, Kim BH, Lee EJ, Chang E, Woo YM, Park JH

المصدر: BMB reports [BMB Rep] 2012 Mar; Vol. 45 (3), pp. 189-93.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Korean Society for Biochemistry and Molecular Biology Country of Publication: Korea (South) NLM ID: 101465334 Publication Model: Print Cited Medium: Internet ISSN: 1976-670X (Electronic) Linking ISSN: 19766696 NLM ISO Abbreviation: BMB Rep Subsets: MEDLINE

مواضيع طبية MeSH: Basic Helix-Loop-Helix Transcription Factors/*metabolism , Cysts/*metabolism , Tumor Suppressor Proteins/*metabolism, Animals ; Apoptosis ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Cell Culture Techniques ; Cell Survival ; Cells, Cultured ; Mice ; Rats ; Real-Time Polymerase Chain Reaction ; Tumor Suppressor Proteins/genetics

المؤلفون: Yook YJ; Department of Biological Science, Sookmyung Women's University, Seoul 140-742, Korea., Woo YM, Yang MH, Ko JY, Kim BH, Lee EJ, Chang ES, Lee MJ, Lee S, Park JH

المصدر: Genomics & informatics [Genomics Inform] 2012 Mar; Vol. 10 (1), pp. 16-22. Date of Electronic Publication: 2012 Mar 31.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Korea Genome Organization Country of Publication: Korea (South) NLM ID: 101223836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2234-0742 (Electronic) Linking ISSN: 1598866X NLM ISO Abbreviation: Genomics Inform Subsets: PubMed not MEDLINE

المؤلفون: Sohn YB; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea., Ki CS, Kim CH, Ko AR, Yook YJ, Lee SJ, Kim SJ, Park SW, Yeau S, Kwon EK, Han SJ, Choi EW, Lee SY, Kim JW, Jin DK

المصدر: Clinical genetics [Clin Genet] 2012 Feb; Vol. 81 (2), pp. 185-90. Date of Electronic Publication: 2011 Feb 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Iduronate Sulfatase/*genetics , Mucopolysaccharidosis II/*genetics, Asian People/genetics ; Humans ; Mucopolysaccharidosis II/diagnosis ; Mutation Rate ; Phenotype ; Republic of Korea

المؤلفون: Kim MS; Department of Pediatrics, Cancer Research Institute, Seoul National University College of Medicine, South Korea., Kang HJ, Park HJ, Yook YJ, Han BD, Kim CW, Kim NH, Lee JW, Kim H, Park KD, Shin HY, Ahn HS

المصدر: Molecular diagnosis & therapy [Mol Diagn Ther] 2011 Oct 01; Vol. 15 (5), pp. 285-92.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 101264260 Publication Model: Print Cited Medium: Internet ISSN: 1179-2000 (Electronic) Linking ISSN: 11771062 NLM ISO Abbreviation: Mol Diagn Ther Subsets: MEDLINE

مواضيع طبية MeSH: Glutathione Transferase/*genetics , Multiplex Polymerase Chain Reaction/*methods , Polymorphism, Genetic/*genetics, Genotype ; Humans