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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 ...
Futboleko lesioen epidemiologiaren, arrisku faktoreen eta ondorioen ikerketa Athletic Cluben.
(2020-01-17)
Tesi honen helburua Athletic Clubeko zerbitzu medikuaren lesioaren kudeaketa hobetzeko 3 galdera erantzutea izan zen. 1. Ikerlanean, gizonezkoen eta emakumezkoen lesioen epidemiologian ezberdintasunak daudela, eta prebentzio ...
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 ...
Contribution of x-linked genes to the origin and development of intellectual disability in patients from the spanish Basque Country
(2020-07-13)
La Discapacidad Intelectual (DI) es un desorden del neurodesarrollo que afecta aproximadamente al 1-3 % de la población y que supone un serio problema, tanto médico como social, en los países desarrollados. La DI ligada ...
Studies on AUF1-regulated deubiquitinase complexes: USP1/UAF1, USP12/UAF1 and USP46/UAF1
(2017-07-05)
Deubiquitinases (DUBs) regulate a wide range of cellular processes and are potential targets for cancer therapy. Our knowledge on the biology of these enzymes is still limited. We focused on three human DUBs (USP1, USP12 ...
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 ...