Results 1 to 10 of about 190,113 (203)

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report [PDF]

Frontiers in Genetics, 2020
RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes, Maryana Mara Marins, Fabiana Louise Motta, Sandra Obikawa Kyosen, Marco Antonio Curiati, Vânia D’Almeida, Ana Maria Martins, João Bosco Pesquero   +7 more
doaj   +6 more sources

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants [PDF]

Human Genomics
Purpose Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups.
Alessandra Zanetti, Francesca D’Avanzo, Rosella Tomanin   +2 more
doaj   +4 more sources

Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene [PDF]

Stem Cell Research, 2019
Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette Beers, Chengyu Liu, Jizhong Zou, Wei Zheng   +8 more
doaj   +3 more sources

Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. [PDF]

JIMD Rep, 2015
Mucopolysaccharidosis type II (MPSII), also known as Hunter syndrome, is an X-linked disorder caused by mutations in the iduronate 2 sulfatase (IDS) gene. This enzyme catalyzes the initial step in the catabolism of heparan sulfate and dermatan sulfate; thus, its deficiency leads to the accumulation of these glycosaminoglycans.
Galvis J, González J, Uribe A, Velasco H.   +3 more
europepmc   +6 more sources

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II [PDF]

Data in Brief, 2015
This data article contains insights into the methodology used for the analysis of three exonic mutations altering the splicing of the IDS gene: c.241C>T, c.257C>T and c.1122C>T.
Liliana Matos, Vânia Gonçalves, Eugénia Pinto, Francisco Laranjeira, Maria João Prata, Peter Jordan, Lourdes R. Desviat, Belén Pérez, Sandra Alves   +8 more
doaj   +3 more sources

IDconverter and IDClight: Conversion and annotation of gene and protein IDs [PDF]

BMC Bioinformatics, 2007
Background Researchers involved in the annotation of large numbers of gene, clone or protein identifiers are usually required to perform a one-by-one conversion for each identifier.
Díaz-Uriarte Ramón, Cañada Andrés, Yankilevich Patricio, Alibés Andreu   +3 more
doaj   +6 more sources

Revealing the role of a novel IDS gene mutation in mucpolysaccharidosis type II: insights from computational analysis [PDF]

Frontiers in Molecular Biosciences
IntroductionMucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked lysosomal storage disorder caused by variants in the IDS gene. This study reports a male infant with a novel hemizygous frameshift mutation (IDS gene: NM_000202.8, c ...
Shanzhou Huang, Chonghan Li, Yuyuan Zhi, Zengling Su, Fei Ma, Congcong Shi, Congcong Shi, Sitao Li, Sitao Li, Sitao Li   +9 more
doaj   +2 more sources

Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II [PDF]

Molecular Therapy: Methods & Clinical Development, 2023
Mucopolysaccharidosis type II (OMIM 309900) is a lysosomal storage disorder caused by iduronate 2-sulfatase (IDS) deficiency and accumulation of glycosaminoglycans, leading to progressive neurodegeneration.
Fabio Catalano, Eva C. Vlaar, Drosos Katsavelis, Zina Dammou, Tessa F. Huizer, Jeroen C. van den Bosch, Marianne Hoogeveen-Westerveld, Hannerieke J.M.P. van den Hout, Esmeralda Oussoren, George J.G. Ruijter, Gerben Schaaf, Karin Pike-Overzet, Frank J.T. Staal, Ans T. van der Ploeg, W.W.M. Pim Pijnappel   +14 more
doaj   +2 more sources

GEOGLE: context mining tool for the correlation between gene expression and the phenotypic distinction [PDF]

BMC Bioinformatics, 2009
Background In the post-genomic era, the development of high-throughput gene expression detection technology provides huge amounts of experimental data, which challenges the traditional pipelines for data processing and analyzing in scientific researches.
Ping Jie, Ding Guohui, Li Yun, Zheng Siyuan, Tu Kang, Yu Yao, Hao Pei, Li Yixue   +7 more
doaj   +3 more sources

Protein-coding genes in humans and model mammals (mouse, rat and pig): gene identifiers and disambiguation of gene nomenclature retrieved from the Ensembl genome browser [PDF]

BMC Genomics
Background Gene nomenclature contains current official symbols and various numbers of synonyms, which pose a challenge to integrating genomic data and increase the probability that different genes share the same symbol.
Grzegorz R. Juszczak, Chandra S. Pareek, Urszula Czarnik, Mariusz Pierzchała   +3 more
doaj   +2 more sources