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A Two-Sample Mendelian Randomization Analysis Investigates Associations Between Gut Microbiota and Celiac Disease
(MDPI, 2020-05-14)
Celiac disease (CeD) is a complex immune-mediated inflammatory condition triggered by the ingestion of gluten in genetically predisposed individuals. Literature suggests that alterations in gut microbiota composition and ...
Executing SADI services in Galaxy
(Biomed Central, 2014-09-22)
Background: In recent years Galaxy has become a popular workflow management system in bioinformatics, due to its ease of installation, use and extension. The availability of Semantic Web-oriented tools in Galaxy, however, ...
Automatically exposing OpenLifeData via SADI semantic Web Services
(Biomed Central, 2014-11-19)
Background: Two distinct trends are emerging with respect to how data is shared, collected, and analyzed within the bioinformatics community. First, Linked Data, exposed as SPARQL endpoints, promises to make data easier ...
Genetic affinities among the historical provinces of Romania and Central Europe as revealed by an mtDNA analysis
(Biomed Central, 2017-03-07)
Background: As a major crossroads between Asia and Europe, Romania has experienced continuous migration and invasion episodes. The precise routes may have been shaped by the topology of the territory and had diverse impacts ...
Maternal DNA lineages at the gate of Europe in the 10th century AD
(Public Library of Science, 2018-03-14)
Given the paucity of archaeogenetic data available for medieval European populations in comparison to other historical periods, the genetic landscape of this age appears as a puzzle of dispersed, small, known pieces. In ...
The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power Performance
(Lippincott Williams & Wilkins, 2020-11)
Diaz, J, alvarez Herms, J, Castaneda, A, Larruskain, J, Ramirez de la Piscina, X, Borisov, OV, Semenova, EA, Kostryukova, ES, Kulemin, NA, Andryushchenko, ON, Larin, AK, Andryushchenko, LB, Generozov, EV, Ahmetov, II, and ...
A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis
(BioMed Central, 2011-06-27)
Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the ...
USP1 deubiquitinase: cellular functions, regulatory mechanisms and emerging potential as target in cancer therapy
(Biomed Central, 2013)
Reversible protein ubiquitination is emerging as a key process for maintaining cell homeostasis, and the enzymes that participate in this process, in particular E3 ubiquitin ligases and deubiquitinases (DUBs), are increasingly ...
Structure-function analysis of USP1: insights into the role of Ser313 phosphorylation site and the effect of cancer-associated mutations on autocleavage
(Biomed Central, 2015-02-06)
Background: In complex with its cofactor UAF1, the USP1 deubiquitinase plays an important role in cellular processes related to cancer, including the response to DNA damage. The USP1/UAF1 complex is emerging as a novel ...
Two Nuclear Localization Signals in USP1 Mediate Nuclear Import of the USP1/UAF1 Complex
(Public Library of Science, 2012-06-06)
The human deubiquitinase USP1 plays important roles in cancer-related processes, such as the DNA damage response, and the maintenance of the undifferentiated state of osteosarcoma cells. USP1 deubiquitinase activity is ...