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Study of the Genetic Etiology of Primary Ovarian Insufficiency: FMR1 Gene
(MDPI, 2016-12-13)
Menopause is a period of women's life characterized by the cessation of menses in a definitive way. The mean age for menopause is approximately 51 years. Primary ovarian insufficiency (POI) refers to ovarian dysfunction ...
Post-translational modifications by sumo and ubiquitin-like proteins; role of sumoylation on sall proteins
(2016-02-18)
Las modificaciones post-traduccional debidas a la conjugación de Ubiquitina y de proteínas similares a la Ubiquitina (UbLs) contribuyen a extender y diversificar la funcionalidad de los proteomas eucariotas. SUMO (Small ...
High Expression of Endogenous Retroviral Envelope Gene in the Equine Fetal Part of the Placenta
(Public Library Science, 2016-05-13)
Endogenous retroviruses (ERVs) are proviral phases of exogenous retroviruses that have co-evolved with vertebrate genomes for millions of years. Previous studies have identified the envelope (env) protein genes of retroviral ...
Functional implication of gwas candidate genes in celiac disease pathogenesis
(2016-09-09)
La enfermedad celíaca (EC) es una enfermedad autoinmune que se desarrolla en personas con susceptibilidad genética. En los últimos años se han realizado diversos estudios de asociación genómica, en los que se han identificado ...
In vivo strategies for the study of ubiquitination and ubiquitin-related diseases: application to Angelman syndrome
(2016-10-17)
Ubikuitilazioa neuronen garapenerako eta funtzionamendurako ezinbesteko da. Neuronetan ubikuitina itsatsita daukaten proteinen identifikazioak asko lagunduko luke prozesu honek garunean dituen zereginak hobeto ulertzeko. ...
Sex-Specific Genetic Effects Associated with Pigmentation, Sensitivity to Sunlight, And Melanoma in a Population of Spanish Origin
(Biomed Central, 2016-03-18)
Background: Human pigmentation is a polygenic quantitative trait with high heritability. In addition to genetic factors, it has been shown that pigmentation can be modulated by oestrogens and androgens via up-or down-regulation ...
Insights on the Origin of Invasive Copepods colonizing Basque Estuaries; a DNA Barcoding Approach
(Biomed Central, 2016-07-13)
Background: The introduction of NIS to estuaries and coastal embayment is of great concern. Commercial ships’
ballast water discharge and the northwards progression of species due to the ongoing climate change arise as ...
18S rRNA V9 metabarcoding for diet characterization: a critical evaluation with two sympatric zooplanktivorous fish species
(Wiley Blackwell, 2016-03)
The potential of the 18S rRNA V9 metabarcoding approach for diet assessment was explored using MiSeq paired-end (PE; 2 9 150 bp) technology. To critically evaluate the method's performance with degraded/digested DNA, the ...
LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers
(Public Library Science, 2016-01-28)
Introduction
The identification of the genetic risk factors that could discriminate non-thrombotic from thrombotic antiphospholipid antibodies (aPLA) carriers will improve prognosis of these patients. Several human ...
Serological and Genetic Evidence for Altered Complement System Functionality in Systemic Lupus Erythematosus: Findings of the GAPAID Consortium
(Public Library Science, 2016-03-07)
Systemic lupus erythematosus is a chronic autoimmune disease with multifactorial ethiopathogenesis. The complement system is involved in both the early and late stages of disease development and organ damage. To better ...