Results 41 to 50 of about 190,979 (293)

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

, 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, Hearst, Marti, Nakov, Preslav   +2 more
core   +3 more sources

Gene Expression in Experimental Aortic Coarctation and Repair: Candidate Genes for Therapeutic Intervention? [PDF]

, 2015
Coarctation of the aorta (CoA) is a constriction of the proximal descending thoracic aorta and is one of the most common congenital cardiovascular defects.
Bozdag, Serdar, Eddinger, Thomas J., Kersten, Judy R., LaDisa, John F., Jr., Olson, Jessica, Ramchandran, Ramani   +5 more
core   +9 more sources

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

Heliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj   +1 more source

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

Molecular Genetics and Metabolism Reports, 2023
Mucopolysaccharidosis II (MPS II) is an X-linked, recessive, inborn metabolic disorder caused by defects in iduronate-2-sulfatase (IDS). The age at onset, disease severity, and rate of progression vary significantly among patients.
Yusuke Hattori, Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shirou Matsumoto, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura   +8 more
doaj   +1 more source

MEME-LaB : motif analysis in clusters [PDF]

, 2013
Genome-wide expression analysis can result in large numbers of clusters of co-expressed genes. While there are tools for ab initio discovery of transcription factor binding sites, most do not provide a quick and easy way to study large numbers of ...
Bailey, Bryne, Higo, Jim Beynon, Jonathan D. Moore, Laura Baxter, Machanick, O’Connor, Paul Brown, Richard Hickman, Sascha Ott, Windram   +11 more
core   +1 more source

Concordant Association of Insulin Degrading Enzyme Gene (IDE) Variants with IDE mRNA, Aß, and Alzheimer's Disease

PLoS ONE, 2010
The insulin-degrading enzyme gene (IDE) is a strong functional and positional candidate for late onset Alzheimer's disease (LOAD).We examined conserved regions of IDE and its 10 kb flanks in 269 AD cases and 252 controls thereby identifying 17 putative functional polymorphisms. These variants formed eleven haplotypes that were tagged with ten variants.
Minerva M Carrasquillo, Olivia Belbin, Olivia Belbin, Fanggeng Zou, Mariet Allen, Nilufer Ertekin-Taner, Morad Ansari, Samantha L Wilcox, Mariah R Kashino, Li Ma, Linda H Younkin, Samuel G Younkin, Curtis S Younkin, Toros A Dincman, Melissa E Howard, Chanley C Howell, Chloe M Stanton, Christopher M Watson, Michael Crump, Veronique Vitart, Caroline Hayward, Nicholas D Hastie, Igor Rudan, Harry Campbell, Ozren Polasek, Kristelle Brown, Peter Passmore, David Craig, Bernadette McGuinness, Stephen Todd, Patrick G Kehoe, David M Mann, A David Smith, Helen Beaumont, Donald Warden, Clive Holmes, Reinhard Heun, Heike Kölsch, Noor Kalsheker, V Shane Pankratz, Dennis W Dickson, Neill R Graff-Radford, Ronald C Petersen, Alan F Wright, Steven G Younkin, Kevin Morgan   +45 more
openaire   +11 more sources

Terzyme: a tool for identification and analysis of the plant terpenome. [PDF]

, 2018
BACKGROUND: Terpenoid hydrocarbons represent the largest and most ancient group of phytochemicals, such that the entire chemical library of a plant is often referred to as its 'terpenome'.

core   +3 more sources

A case report of a patient with mucopolysaccharidosis type II

Revista Médica del Hospital General de México, 2017
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome.
M.R. Rivera Vega, H. García Vidaña, G. Pacheco Cuéllar, S.A. Cuevas-Covarrubias   +3 more
doaj   +1 more source

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
P J, Wilson, C A, Meaney, J J, Hopwood, C P, Morris   +3 more
openaire   +2 more sources

Multiple tests of association with biological annotation metadata

, 2008
We propose a general and formal statistical framework for multiple tests of association between known fixed features of a genome and unknown parameters of the distribution of variable features of this genome in a population of interest.
Mark J. Van Der Laan, Mark J. Van Der Laan, Rine Dudoit, Rine Dudoit Sunduz Keles, Sunduz Keles   +4 more
core   +2 more sources