Results 11 to 20 of about 2,703,511 (280)

Sequence of the Human Iduronate 2-Sulfatase (IDS) Gene

Genomics, 1993
Deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13) results in the storage of the glycosaminoglycans heparan sulfate and dermatan sulfate, which leads to the lysosomal storage disorder mucopolysaccharidosis type II. Three overlapping genomic clones derived from an X-chromosome-specific library containing the entire IDS gene were
J J Hopwood, P J Wilson, C Phillip Morris   +2 more
exaly   +3 more sources

Protein-coding genes in humans and model mammals (mouse, rat and pig): gene identifiers and disambiguation of gene nomenclature retrieved from the Ensembl genome browser [PDF]

BMC Genomics
Background Gene nomenclature contains current official symbols and various numbers of synonyms, which pose a challenge to integrating genomic data and increase the probability that different genes share the same symbol.
Grzegorz R. Juszczak, Chandra S. Pareek, Urszula Czarnik, Mariusz Pierzchała   +3 more
doaj   +2 more sources

Pan-NLR gene family analyses decipher evolutionary dynamics, population diversity, and potential disease resistance genes in cucumber [PDF]

BMC Plant Biology
Background 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
doaj   +2 more sources

GeneToList: A Web Application to Assist with Gene Identifiers for the Non-Bioinformatics-Savvy Scientist

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, E. Francis Begue III, David J. Kennedy, Steven T. Haller   +3 more
doaj   +1 more source

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, Aiyin Liao, Hélène F.E. Gleitz, Helen Parker, Laura Booth, John Robinson, Shaun Wood, Jessica Taylor, Rebecca Holley, Brian W. Bigger   +9 more
doaj   +1 more source

Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans

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, Hsiang-Yu Lin, Chih-Kuang Chuang, Po-Hsiang Zhang, Ru-Yi Tu, Shuan-Pei Lin, Huai-Jen Tsai   +6 more
doaj   +1 more source

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

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

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, Brad T, Sherman, Robert, Stephens, Michael W, Baseler, H Clifford, Lane, Richard A, Lempicki   +5 more
openaire   +2 more sources

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., Bojović Lana P., Jevremović Nevena G., Simić Ivan B.   +3 more
doaj  

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, Yu, Michael, Mckeithan, Wesley, Spiering, Sean, Carrette, Florent, Huang, Chun-Teng, Bushway, Paul, Tierney, Matthew, Albini, Sonia, Giacca, Mauro, Mano, Miguel, Puri, Pier, Sacco, Alessandra, Ruiz-Lozano, Pilar, Riou, Jean-Francois, Umbhauer, Muriel, Duester, Gregg, Mercola, Mark, Colas, Alexandre   +18 more
openaire   +4 more sources