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Artículo
Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease
(2016-02-16)
Hirschsprung disease (HSCR) is attributed to a failure of neural crest derived cells to migrate, proliferate, differentiate or survive in the bowel wall during embryonic Enteric Nervous System (ENS) development. This ...
Artículo
Phosphorylation of gH2AX as a novel prognostic biomarker for laryngoesophageal dysfunction-free survival
(Impact Journals, 2016-01-04)
Current larynx preservation treatments have achieved an improvement of laryngoesophageal dysfunction-free survival (LDS) but lead to significant toxicities and recurrences. At present, there is no evidence to select the ...
Artículo
Dasatinib, a Src inhibitor, sensitizes liver metastatic colorectal carcinoma to oxaliplatin in tumors with high levels of phospho-Src.
(Impact Journals, 2016-04-20)
Despite the development of new antineoplastic agents for the treatment of colorectal cancer (CRC), oxaliplatin and fluoropyrimidines remain the most commonly employed drugs for the treatment of both early and advanced ...
Artículo
Sensitivity of hematopoietic stem cells to mitochondrial dysfunction by SdhD gene deletion
(2016)
It is established that hematopoietic stem cells (HSC) in the hypoxic bone marrow have adapted their metabolism to oxygen-limiting conditions. This adaptation includes suppression of mitochondrial activity, induction of ...
Artículo
Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
(Hindawi, 2014-10-14)
Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as ...
Artículo
Role of VHL, HIF1A and SDH on the expression of miR-210: Implications for tumoral pseudo-hypoxic fate
(Impact Journals, 2016)
The hypoxia-inducible factor 1a (HIF-1a) and its microRNA target, miR-210, are candidate tumor-drivers of metabolic reprogramming in cancer. Neuroendocrine neoplasms such as paragangliomas (PGLs) are particularly appealing ...
Artículo
A map of human microRNA variation uncovers unexpectedly high levels of variability
(BMC, 2012-08-24)
Background: MicroRNAs (miRNAs) are key components of the gene regulatory network in many species. During the past few years, these regulatory elements have been shown to be involved in an increasing number and range of ...
Artículo
Distribution and Outcomes of a Phenotype- Based Approach to Guide COPD Management: Results from the CHAIN Cohort
(Public Library Of Science., 2016-11-02)
Rationale The Spanish guideline for COPD (GesEPOC) recommends COPD treatment according to four clinical phenotypes: non-exacerbator phenotype with either chronic bronchitis or emphy- sema (NE), asthma-COPD overlap ...
Artículo
Aberrant cortical associative plasticity associated with severe adult Tourette syndrome
(Wiley, 2015)
Background. Recent studies have shown altered cortical plasticity in adult patients with Tourette syndrome. However, the clinical significance of this finding remains elusive. Methods. Motor cortical plasticity was evaluated ...
Artículo
Testing for alpha-1 antitrypsin in COPD in outpatient respiratory clinics in Spain: A multilevel, cross-sectional analysis of the EPOCONSUL study
(Public Library of Science, 2018-06-28)
Background Alpha-1 antitrypsin deficiency (AATD) is the most common hereditary disorder in adults, but is under-recognized. In Spain, the number of patients diagnosed with AATD is much lower than expected according to ...