Results 41 to 50 of about 190,232 (322)

Large-scale event extraction from literature with multi-level gene normalization [PDF]

open access: yes, 2013
Text mining for the life sciences aims to aid database curation, knowledge summarization and information retrieval through the automated processing of biomedical texts.
Ananiadou, Sophia   +10 more
core   +3 more sources

ID gene activity during Xenopus embryogenesis

open access: yesMechanisms 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

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II

open access: yesBMC 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

Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China

open access: yesFrontiers 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

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

open access: yesEMBO 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

Do peers see more in a paper than its authors? [PDF]

open access: yes, 2012
Recent years have shown a gradual shift in the content of biomedical publications that is freely accessible, from titles and abstracts to full text. This has enabled new forms of automatic text analysis and has given rise to some interesting questions ...
Divoli, Anna   +2 more
core   +3 more sources

The Plant Ontology facilitates comparisons of plant development stages across species [PDF]

open access: yes, 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

DNA methylation profiling of primary neuroblastoma tumors using methyl-CpG-binding domain sequencing [PDF]

open access: yes, 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

MetaboTools: A comprehensive toolbox for analysis of genome-scale metabolic models [PDF]

open access: yes, 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

ID genes mediate tumor reinitiation during breast cancer lung metastasis [PDF]

open access: yesProceedings 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

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