Results 31 to 40 of about 190,979 (293)
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 +14 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 +2 more sources
A simple and robust method for connecting small-molecule drugs using gene-expression signatures [PDF]
, 2008 Interaction of a drug or chemical with a biological system can result in a gene-expression profile or signature characteristic of the event. Using a suitably robust algorithm these signatures can potentially be used to connect molecules with similar ...
B Efron +20 more
core +5 more sources
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
The Plant Ontology facilitates comparisons of plant development stages across species [PDF]
, 2019 The Plant Ontology (PO) is a community resource consisting of standardized terms, definitions, and logical relations describing plant structures and development stages, augmented by a large database of annotations from genomic and phenomic studies.
Cooper, Laurel +7 more
core +2 more sources
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
MetaboTools: A comprehensive toolbox for analysis of genome-scale metabolic models [PDF]
, 2016 Metabolomic data sets provide a direct read-out of cellular phenotypes and are increasingly generated to study biological questions. Our previous work revealed the potential of analyzing extracellular metabolomic data in the context of the metabolic ...
Aurich, Maike K. +2 more
core +3 more sources
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
DNA methylation profiling of primary neuroblastoma tumors using methyl-CpG-binding domain sequencing [PDF]
, 2016 Comprehensive genome-wide DNA methylation studies in neuroblastoma (NB), a childhood tumor that originates from precursor cells of the sympathetic nervous system, are scarce. Recently, we profiled the DNA methylome of 102 well-annotated primary NB tumors
Decock, Anneleen +4 more
core +1 more source
ID genes mediate tumor reinitiation during breast cancer lung metastasis [PDF]
Proceedings of the National Academy of Sciences, 2007 The establishment of distant metastases depends on the capacity of small numbers of cancer cells to regenerate a tumor after entering a target tissue. The mechanisms that confer this capacity remain to be defined. Here we identify a role for the transcriptional inhibitors of differentiation Id1 and Id3 as selective mediators of lung ...
Gupta G. P. +9 more
openaire +3 more sources