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
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Rescue of neurologic disease in mucopolysaccharidosis type II mice via AAV-mediated liver delivery of brain-penetrating iduronate-2-sulfatase [PDF]
NeurotherapeuticsMucopolysaccharidosis type II (MPS II) is a neurodegenerative lysosomal storage disorder (LSD) caused by inherited mutations in the iduronate-2-sulfatase (IDS) gene.
Xiu Jin +15 more
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Pan-NLR gene family analyses decipher evolutionary dynamics, population diversity, and potential disease resistance genes in cucumber [PDF]
BMC Plant BiologyBackground Cucumber (Cucumis sativus L.) is a globally important crop, yet its production is severely hampered by pathogen attacks, leading to substantial economic losses. Nucleotide-binding site-leucine-rich repeat (NLR) genes are critical components of
Baohui Zhang, Ying Deng
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Video Tip: Convert Gene IDs with Biomart
, 2012 I get asked frequently how to convert from one gene identifier to another. This can be tricky, especially when relying on gene symbols, as Will pointed out in a previous post a few years ago. There are several tools that can do this, including DAVID and the previously mentioned new Biomart ID Converter, but I still prefer using the Ensembl Biomart for ...
Stephen Turner
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Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II [PDF]
Diagnostic Pathology, 2011 Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS).
Chkioua Latifa +8 more
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Comparative studies of vertebrate iduronate 2-sulfatase (IDS) genes and proteins: evolution of A mammalian X-linked gene [PDF]
3 Biotech, 2017 IDS is responsible for the lysosomal degradation of heparan sulfate and dermatan sulfate and linked to an X-linked lysosomal storage disease, mucopolysaccharidosis 2 (MPS2), resulting in neurological damage and early death. Comparative IDS amino acid sequences and structures and IDS gene locations were examined using data from several vertebrate genome
Roger S. Holmes
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Annotables: R data package for annotating/converting Gene IDs
, 2015 I work with <em> gene lists </em> on a nearly daily basis. Lists of genes near ChIP-seq peaks, lists of genes closest to a GWAS hit, lists of differentially expressed genes or transcripts from an RNA-seq experiment, lists of genes involved in certain pathways, etc.
Scott A. Turner
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Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). [PDF]
Int J Mol Sci, 2019 Lin HY +11 more
europepmc +3 more sources
Biology, 2022 The increasing incorporation of omics technologies into biomedical research and translational medicine presents challenges to end users of the large and complex datasets that are generated by these methods.
Joshua D. Breidenbach +3 more
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