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Mostrando ítems 41-50 de 319
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
Selective expression of the neurexin substrate for presenilin in the adult forebrain causes deficits in associative memory and presynaptic plasticity
(Elsevier, 2021-10-15)
Presenilins (PS) form the active subunit of the gamma-secretase complex, which mediates the proteolytic clearance of a broad variety of type-I plasma membrane proteins. Loss-of-function mutations in PSEN1/2 genes are the ...
Artículo
The essential role of IL-17 as the pathogenetic link between psoriasis and metabolic-associated fatty liver disease
(MDPI, 2023)
Interleukin 17 (IL-17) is an effector cytokine that plays a key role in the pathogenesis of both psoriasis and metabolic-associated fatty liver disease (MAFLD), a condition that is more prevalent and severe in patients ...
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
COVID-19 in adult acute myeloid leukemia patients: a long-term follow-up study from the European Hematology Association survey (EPICOVIDEHA)
(Ferrata Storti Foundation, 2023-01)
Patients with acute myeloid leukemia (AML) are at high risk of dying from coronavirus disease 2019 (COVID-19). The optimal management of AML patients with COVID-19 has not been established. Our multicenter study included ...
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 ...