| Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome. | Mutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.
Ramírez-Hernández MA, Figuera LE, Rizo-de la Torre LC, Mendoza-Ruvalcaba MTMSC, Arnaud-López L, García-Ortiz JE, Zúñiga-González GM, Puebla-Pérez AM, Gómez-Meda BC, Gallegos-Arreola MP. | 08/13/2022 |
| Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling? | Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
Jezela-Stanek A, Pokora P, Młynek M, Smyk M, Ziemkiewicz K, Różdżyńska-Świątkowska A, Tylki-Szymańska A., Free PMC Article | 12/25/2021 |
| Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II. | Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II.
Matsuhisa K, Imaizumi K., Free PMC Article | 12/18/2021 |
| Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children. | Identification and structure characterization of novel IDS variants causing mucopolysaccharidosis type II: A retrospective analysis of 30 Chinese children.
Zhao XY, Qiao GM, Liu F. | 12/11/2021 |
| Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment. | Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
D'Avanzo F, Rigon L, Zanetti A, Tomanin R., Free PMC Article | 11/21/2020 |
| Mucopolysaccharidosis type II R468Q IDS mutant could not be refolded in the calnexin cycle.Calnexin accelerates the folding of the mucopolysaccharidosis type II mutant IDS in the endoplasmic reticulum. | Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.
Osaki Y, Matsuhisa K, Che W, Kaneko M, Asada R, Masaki T, Imaizumi K, Saito A. | 07/25/2020 |
| Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants | Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Zhang W, Xie T, Sheng H, Shao Y, Lin Y, Jiang M, Xu A, Su X, Liu Z, Zhao X, Liu L, Huang Y. | 03/23/2019 |
| IDS structure revealed by X-ray crystallography provides essential insight into multiple mechanisms by which pathogenic mutations interfere with enzyme function, and a compelling explanation for severe Hunter syndrome phenotypes. | Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M, Hill CH, Zhou A, Bunkóczi G, Stein PE, Marchesan D, Deane JE, Read RJ., Free PMC Article | 12/22/2018 |
| Study analyzed the genotype-phenotype relationship for 17 patients with mucopolysaccharidosis II and performed expression studies for 12 variants, nine of which have not been reported previously; speculated that very low or cell-type-specific IDS residual activity is sufficient to prevent the neuronal phenotype. | Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP. | 09/30/2017 |
| Study identified 16 novel mutations in the IDS gene and revealed that the severe type of mucopolysaccharidosis type II is strongly associated with large structural alteration of the gene. | Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
Kosuga M, Mashima R, Hirakiyama A, Fuji N, Kumagai T, Seo JH, Nikaido M, Saito S, Ohno K, Sakuraba H, Okuyama T. | 09/2/2017 |
| Functional characterization of all the novel sequence variants identified in the study would be helpful to confirm the clinical significance and to determine the effect of these variations on the function of respective proteins (IDUA and IDS) | Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu AS, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, Sankar VH, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A. | 07/8/2017 |
| A splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous. | [Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeⅡ].
Li Y, Mei S, Kong X, Zhao Z, Zhu X, Yang X, Qin Z, Wu H. | 07/1/2017 |
| Extensive iduronate 2-sulfatase (Hunter syndrome) (IDS) gene deletions were identified in four mucopolysaccharidosis type II (MPSII) patients. | Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
Alcántara-Ortigoza MA, García-de Teresa B, González-Del Angel A, Berumen J, Guardado-Estrada M, Fernández-Hernández L, Navarrete-Martínez JI, Maza-Morales M, Rius-Domínguez R. | 05/6/2017 |
| Two new mutations were discovered: p.K236N (c.708G>C) and p.Q80K (c.238C>A) which resulted in a severe phenotype and early death of Muccopolysaccharridosis Type II patients from Bulgaria and Macedonia. | Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.
Gucev ZS, Tasic V, Sinigerska I, Kremensky I, Tincheva R, Pop-Jordanova N, Danilovski D, Hofer D, Paschke E. | 04/2/2016 |
| p.Ser142Phe and p.Ile360Tyrfs*31 mutations caused the severe disease manifestation | Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Chistiakov DA, Kuzenkova LM, Savost'anov KV, Gevorkyan AK, Pushkov AA, Nikitin AG, Vashakmadze ND, Zhurkova NV, Podkletnova TV, Namazova-Baranova LS, Baranov AA. | 04/11/2015 |
| This study evaluated a novel mutation in the IDS gene among 8 male Hunter syndrome patients; there was a quantitative deficiency of NK and B cell with normal responses in other immune parameters. | NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene.
Torres LC, Soares DC, Kulikowski LD, Franco JF, Kim CA. | 11/8/2014 |
| 30 novel iduronate sulfatase mutations have been identified in mucopolysaccharidosis type II Latin American patients. | Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC, Schwartz IV, Zimmer C, Ribeiro MG, Acosta AX, Horovitz D, Monlleó IL, Fontes MI, Fett-Conte A, Sobrinho RP, Duarte AR, Boy R, Mabe P, Ascurra M, de Michelena M, Tylee KL, Besley GT, Garreton MC, Giugliani R, Leistner-Segal S. | 09/27/2014 |
| Identification of a splice site mutation in the IDS gene associated with mucopolysaccharidosis type II. | A 3' splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II.
Jin P, Hao JW, Chen K, Dong CS, Yang YB, Mo ZH. | 11/16/2013 |
| a novel (p.R468P) and five known (p.R88C, p.D148V, p.G224A, p.Y348X, and p.R468Q) IDS mutations were shown to result in proteins with little or no IDS activity and altered protein processing, when expressed in COS7 cells | Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells.
Charoenwattanasatien R, Cairns JR, Keeratichamroen S, Sawangareetrakul P, Tanpaiboon P, Wattanasirichaigoon D, Pangkanon S, Svasti J, Champattanachai V. | 06/8/2013 |
| A report of a novel IDS nonsense mutation resulting in mucopolysaccharidosis type II in several patients from a Chinese family. | A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.
Li XY, Shi XY, Ju J, Hu XH, Yang XF, Zou LP. | 02/16/2013 |
| genetically analyze patients with severe Hunter syndrome that showed a total deletion of the iduronate-2-sulphatase (IDS) gene | Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.
Brusius-Facchin AC, De Souza CF, Schwartz IV, Riegel M, Melaragno MI, Correia P, Moraes LM, Llerena J Jr, Giugliani R, Leistner-Segal S. | 10/27/2012 |
| Family members with 3 generations of X-inactivation with Hunter syndrome have 1568A>G missence mutation in the IDS gene | Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X-linked disorders.
Kloska A, Jakóbkiewicz-Banecka J, Tylki-Szymańska A, Czartoryska B, Węgrzyn G. | 06/16/2012 |
| LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining | LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.
Oshima J, Lee JA, Breman AM, Fernandes PH, Babovic-Vuksanovic D, Ward PA, Wolfe LA, Eng CM, Del Gaudio D. | 02/4/2012 |
| Hunter syndrome in Thailand is caused by a diverse set of defects affecting both IDS protein production and activity. | Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
Keeratichamroen S, Cairns JR, Wattanasirichaigoon D, Wasant P, Ngiwsara L, Suwannarat P, Pangkanon S, Kuptanon J, Tanpaiboon P, Rujirawat T, Liammongkolkul S, Svasti J. | 01/14/2012 |
| study describes a woman with mild manifestations of Hunter syndrome who gave birth to a daughter; both the mother and daughter carried the p.R443X mutation in exon 9 of the ID2S gene | A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, Huh SW, Yeau S, Paik KH, Jin DK. | 05/7/2011 |