Results 11 to 20 of about 2,908,134 (284)
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 +2 more sources
IDconverter and IDClight: Conversion and annotation of gene and protein IDs [PDF]
BMC Bioinformatics, 2007 Background Researchers involved in the annotation of large numbers of gene, clone or protein identifiers are usually required to perform a one-by-one conversion for each identifier.
Díaz-Uriarte Ramón +3 more
doaj +4 more sources
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome. [PDF]
JIMD Rep, 2015 Mucopolysaccharidosis type II (MPSII), also known as Hunter syndrome, is an X-linked disorder caused by mutations in the iduronate 2 sulfatase (IDS) gene. This enzyme catalyzes the initial step in the catabolism of heparan sulfate and dermatan sulfate; thus, its deficiency leads to the accumulation of these glycosaminoglycans.
Galvis J +3 more
europepmc +4 more sources
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
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
Identity crisis? The need for systematic gene IDs [PDF]
Trends in Parasitology, 2011 Recent years have seen an explosion in the availability of protozoan pathogen genome sequences. Although data regarding the underlying genome sequence remain relatively stable after the initial draft, understanding of specific gene function is increasing rapidly.
Marilyn, Parsons +4 more
openaire +2 more sources
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 +4 more sources
, 1995 We have recently described the identification of a second IDS locus (IDS-2) located within 90 kb telomeric of the IDS gene (Bondeson et al. submitted). Here, we show that this region is involved in a recombination event with the IDS gene in about 13% of ...
Carlberg, Britt-Marie, +6 more
core +8 more sources
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