Results 21 to 30 of about 190,232 (322)
DAVID gene ID conversion tool [PDF]
Bioinformation, 2008 Our current biological knowledge is spread over many independent bioinformatics databases where many different types of gene and protein identifiers are used. The heterogeneous and redundant nature of these identifiers limits data analysis across different bioinformatics resources.
Da Wei, Huang +5 more
openaire +2 more sources
Sustained long-term disease correction in a murine model of MPSII following stem cell gene therapy
Molecular Therapy: Methods & Clinical Development, 2023 Mucopolysaccharidosis type II (MPSII) is a pediatric lysosomal storage disease caused by deficiencies in the IDS (iduronate-2-sulfatase) gene resulting in accumulation of glycosaminoglycans, multisystem disease, and profound neurodegeneration in severe ...
Stuart Ellison +9 more
doaj +1 more source
Diagnostics, 2020 Mucopolysaccharidosis type II (MPS II) is an X-linked disorder resulting from a deficiency in iduronate 2-sulfatase (IDS), which is reported to be caused by gene mutations in the iduronate 2-sulfatase (IDS) gene.
Cheng-Yung Lin +6 more
doaj +1 more source
JIMD Reports, 2021 Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS).
Maria Fuller, David Ketteridge
doaj +1 more source
Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report [PDF]
Kragujevac Journal of Science, 2023 Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes.
Tubić-Vukajlović Jovana M. +3 more
doaj
A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
Scientific Reports, 2023 Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder characterized by an accumulation of glycosaminoglycans (GAGs), including heparan sulfate, in the body.
Ryuichi Mashima +4 more
doaj +1 more source
Modeling Mucopolysaccharidosis Type II in the Fruit Fly by Using the RNA Interference Approach
Life, 2020 Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder that occurs due to the deficit of the lysosomal enzyme iduronate 2-sulfatase (IDS) that leads to the storage of the glycosaminoglycan heparan- and dermatan-sulfate in all organs and ...
Laura Rigon +3 more
doaj +1 more source
Id genes are essential for early heart formation [PDF]
Genes & Development, 2017 Deciphering the fundamental mechanisms controlling cardiac specification is critical for our understanding of how heart formation is initiated during embryonic development and for applying stem cell biology to regenerative medicine and disease modeling.
Cunningham, Thomas +18 more
openaire +5 more sources
Frontiers in Pediatrics, 2021 Children and adolescents living with human immunodeficiency virus (CA-HIV) suffer a considerable burden of internalizing disorders (IDs; depressive and anxiety disorders).
Tonny Jimmy Owalla +9 more
doaj +1 more source
HEAT: a New Tool for Gene Set Enrichment Analysis Using Comprehensive Annotation of Human Genes in H-InvDB [PDF]
, 2010 H-InvDB Enrichment Analysis Tool (HEAT) is a new data-mining tool for gene set enrichment analysis based on comprehensive annotations of human genes in H-InvDB. HEAT searches for H-InvDB annotations that are significantly enriched in a user-defined gene
Akiko O. Noda +2 more
core +2 more sources