Results 31 to 40 of about 2,703,511 (280)
Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms
EMBO Molecular Medicine, 2018 The pediatric lysosomal storage disorder mucopolysaccharidosis type II is caused by mutations in IDS, resulting in accumulation of heparan and dermatan sulfate, causing severe neurodegeneration, skeletal disease, and cardiorespiratory disease.
Hélène FE Gleitz +8 more
doaj +1 more source
Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II
BMC Medical Genomics, 2021 Background Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS).
Chuan Zhang +13 more
doaj +1 more source
Frontiers in Genetics, 2023 Background: Mucopolysaccharidosis Type II (MPS II) is a rare, progressive and ultimately fatal X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene.
Zhenjie Zhang +7 more
doaj +1 more source
EPUB Download Guidelines for IDS eBooks
, 2022 A guide to downloading EPUB eBook files from IDS OpenDocs and accessing them via e-reader applications and software on electronic ...
IDS Publications Team (19285792)
core +1 more source
Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing. [PDF]
PLoS ONE, 2011 BACKGROUND: Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a rare disease inherited in an X-linked autosomal recessive pattern. It is the prevailing form of the mucopolysaccharidoses in China.
Huiwen Zhang +8 more
doaj +1 more source
ID gene activity during Xenopus embryogenesis
Mechanisms of Development, 1995 The activity of bHLH transcription factors that are involved in cell determination and differentiation is inhibited by Ids, HLH proteins lacking the basic amino acid sequence element. In order to determine the role of Id during development, we have isolated and characterized the Id genes expressed in Xenopus embryos.
Zhang, Hong +4 more
openaire +3 more sources
, 2021 Gene IDs of metabolic, transporters, antioxidants, and miRNA processing genes in Symbiodiniaceae representatives and Acropora ...
Niño Posadas (8462271) +2 more
core +1 more source
, 2021 As an organisation that pursues and enables collaboration in constructing and sharing knowledge for development, IDS is committed to making research knowledge freely available, accessible, re-usable and relevant to those who can bring about progressive ...
Institute of Development Studies (IDS) (19282513)
core +1 more source
Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain
Heliyon, 2019 Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona +8 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2023 Mucopolysaccharidosis II (MPS II) is an X-linked, recessive, inborn metabolic disorder caused by defects in iduronate-2-sulfatase (IDS). The age at onset, disease severity, and rate of progression vary significantly among patients.
Yusuke Hattori +8 more
doaj +1 more source