Results 11 to 20 of about 190,979 (293)

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

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

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  

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, Mari Ohira, Torayuki Okuyama, Masafumi Onodera, Shuji Takada   +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, Nicole Kucharowski, Franka Eckardt, Reinhard Bauer   +3 more
doaj   +1 more source

Association of Stress, Glucocorticoid Receptor, and FK506 Binding Protein Gene Polymorphisms With Internalizing Disorders Among HIV-Infected Children and Adolescents From Kampala and Masaka Districts—Uganda

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, Tonny Jimmy Owalla, Wilber Joseph Ssebajjwe, Dennis Muhanguzi, Jacqueline Samantha Womersley, Jacqueline Samantha Womersley, Eugene Kinyanda, Eugene Kinyanda, Allan Kalungi, Allan Kalungi   +9 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, 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   +5 more sources

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, Peter J, Myler, Matthew, Berriman, David S, Roos, Kenneth D, Stuart   +4 more
openaire   +2 more sources

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, Miho Sera, Tadashi Imanishi   +2 more
core   +2 more sources