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Heterozygous coding mutations in the INS gene that encodes preproinsulin were recently shown to be an important cause of permanent neonatal diabetes. These dominantly acting mutations prevent normal folding of proinsulin, which leads to beta-cell death through endoplasmic reticulum stress and apoptosis. We now report 10 different recessive INS mutations in(More)
BACKGROUND Previous studies have shown that acute intake of high-phenol virgin olive oil reduces pro-inflammatory, pro-oxidant and pro-thrombotic markers compared with low phenols virgin olive oil, but it still remains unclear whether effects attributed to its phenolic fraction are exerted at transcriptional level in vivo. To achieve this goal, we aimed at(More)
BACKGROUND To date, research examining the relationship between serotonergic genes and obsessive-compulsive disorder (OCD) has yielded conflicting results. The purpose of this study is to investigate the association between four serotonergic polymorphisms (STin2 VNTR and 5-HTTLPR of the SLC6A4 gene, and A-1438G (rs6311) and T102C (rs6313) of the HTR2A gene)(More)
OBJECTIVE To investigate the association between dopaminergic polymorphisms [DRD2 -141C Ins/Del, DRD3 Ser9Gly, and SLC6A3 VNTR] and schizophrenia. METHODS Two hundred and eighty-eight outpatients with schizophrenia (DSM-IV criteria) [mean age (SD)=36.4 (12.4), 60.1% males] and 421 unrelated healthy controls [mean age (SD)=40.6 (11.3), 51.3% males] from a(More)
OBJECTIVE To investigate (i) the association between four serotonergic polymorphisms (A-1438G and T102C of the 5-HT2A receptor gene, and 5-HTT VNTR and 5-HTTLPR of the 5-HT transporter gene) and schizophrenia and (ii) the potential interaction of those polymorphisms in the development of schizophrenia. SUBJECTS AND METHODS 227 outpatients with(More)
BACKGROUND Exposure to xenoestrogens during pregnancy may disturb the development and function of male sexual organs. OBJECTIVE In this study we aimed to determine whether the combined effect of environmental estrogens measured as total effective xenoestrogen burden (TEXB) is a risk factor for male urogenital malformations. METHODS In a case-control(More)
Strontium ranelate (SR) is an orally administered and bone-targeting anti-osteoporotic agent that increases osteoblast-mediated bone formation while decreasing osteoclastic bone resorption, and thus reduces the risk of vertebral and femoral bone fractures in postmenopausal women with osteoporosis. Osteoblastic alkaline phosphatase (ALP) is a key enzyme(More)
The access to the Universities studies is one of the most important steps to obtain a total integration of the people with disabilities. Spanish laws about Web Accessibility, force to the public institutions, including Universities, to accomplish the basic normative WCAG since 2002. In this paper we present a study of the accessibility on the Spanish(More)
BACKGROUND Data from epidemiological genetic studies suggest that variability in personality traits is explained, at least partly, by genetic factors. Recently, a growing number of molecular genetic studies have suggested the involvement of the serotonin system in specific traits. OBJECTIVE To investigate the association between three serotonergic(More)
Assistive technologies need to constantly adapt and react to user needs. To this end, ambient intelligence techniques could be adopted. One approach consists of defining suitable rules to trigger actions or suggestions to the users. In this paper, ATML (Ambient intelligence Trigger Markup Language), a novel suitable language, is presented and described.(More)