Ciències de la Salut: Recent submissions
Now showing items 401-420 of 1006
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Exploring the link between MORF4L1 and risk of breast cancer
(Breast Cancer Research, 2011)Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway ... -
Targeting DNA repair defects for precision medicine in prostate cancer
(Current Oncology Reports, 2019)Purpose of Review: Genomic studies of localized and metastatic prostate cancer have identified a high prevalence of clinically actionable alterations including mutations in DNA repair genes. In this ... -
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
(Haematologica, 2023)Congenital dyserythropoietic anemia type III (CDA III) is one of the rarest types of CDA. The autosomal dominant form of CDA III, is due to mono-allelic mutations in the KIF23 gene (MIM:105600); two ... -
Control of systemic iron homeostasis by the 3’ iron-responsive element of divalent metal transporter 1 in mice
(HemaSphere, 2020)Tight control of intestinal iron absorption is required to avoid both iron insufficiency and excess.1 Dietary nonheme iron is taken up by absorptive enterocytes via the apical iron transporter DMT1 ... -
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria
(Haematologica, 2021)Porphyrias are a group of eight genetically distinct disorders, each resulting from a partial deficiency or gain-offunction of a specific enzyme in the heme biosynthetic pathway.1 Porphyrias are inherited ... -
The european hematology association roadmap for european hematology research: a consensus document
(Haematologica, 2016)The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical ... -
The actin binding protein profilin 2 is a novel regulator of iron homeostasis
(Blood, 2017)Cellular iron homeostasis is controlled by the iron regulatory proteins (IRPs) 1 and 2 that bind cis-regulatory iron-responsive elements (IRE) on target messenger RNAs (mRNA). We identified profilin 2 ... -
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
(Haematologica, 2018)variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for ... -
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
(Nature Communications, 2018)BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors ... -
Informal caregiving: perceived needs
(Nursing Science Quarterly, 2008)With the increasing population of persons over the age of 65 who need daily assistance in Spain, there is considerable need to better understand informal caregivers' views, particularly about the resources ... -
Factors influencing burden among non-professional immigrant caregivers: a case-control study
(Journal of Advanced Nursing, 2012)Aim: To identify factors related to the burden that is experienced by untrained immigrant caregivers. Background: There is growing concern about how to provide the care required by an ageing population. ... -
Impact of a long-term tobacco-free policy at a comprehensive cancer center: a series of cross-sectional surveys
(BMC Public Health, 2014)Background: Spain has passed two smoke-free laws in the last years. In 2005, the law banned smoking in indoor places, and in 2010 the ban was extended to outdoor areas of certain premises such as ... -
Impact of the Bachelor's thesis on the nursing profession
(Nurse Education Today, 2015)Background: The Bologna Declaration ushered in the reform of higher education in 30 countries of the European Union (EU) and led to the establishment of the European Higher Education Area (EHEA), ... -
Iron regulatory protein-1 and -2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins
(Blood, 2011)Iron regulatory proteins (IRPs) 1 and 2 are RNA-binding proteins that control cellular iron metabolism by binding to conserved RNA motifs called iron-responsive elements (IREs). The currently known ... -
Iron refractory iron deficiency anemia
(Haematologica, 2013)Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6In vitro gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an ... -
Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency anemia patients and genotype–phenotype studies
(Human Mutation, 2014)Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized by hypochromic microcytic anemia, low transferrin saturation, and inappropriate high levels of the ... -
Population screening for hemochromatosis: a study in 5370 Spanish blood donors
(Journal of Hepatology, 2003)Background/Aims: Hereditary hemochromatosis is associated with homozygosity for C282Y mutation in the HFE gene, elevated serum transferrin saturation and excess iron deposits throughout the body. We ... -
An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
(Nature Genetics, 2004)Inflammation influences iron balance in the whole organism. A common clinical manifestation of these changes is anemia of chronic disease (ACD; also called anemia of inflammation). Inflammation reduces ... -
Iron-regulatory proteins limit hypoxia-inducible factor 2α expression in iron deficiency
(Nature Structural & Molecular Biology, 2007)Hypoxia stimulates erythropoiesis, the major iron-utilization pathway. We report the discovery of a conserved, functional iron-responsive element (IRE) in the 5′ untranslated region of the messenger RNA ...