Search results for "HIF"
showing 10 items of 1515 documents
Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BE…
1999
The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different organ systems. As treatment of VHL malformations in presymptomatic stages will improve significantly the clinical outcome and the patient's quality of life, early and unambiguous detection of a germline mutation is mandatory. Direct sequencing especially of large genes might be laborious and time consuming. Therefore, most laboratories apply single strand conformational polymorphi…
Redox regulation of genome stability by effects on gene expression, epigenetic pathways and DNA damage/repair
2015
Reactive oxygen and nitrogen species (e.g. H2O2, nitric oxide) confer redox regulation of essential cellular signaling pathways such as cell differentiation, proliferation, migration and apoptosis. In addition, classical regulation of gene expression or activity, including gene transcription to RNA followed by translation to the protein level, by transcription factors (e.g. NF-κB, HIF-1α) and mRNA binding proteins (e.g. GAPDH, HuR) is subject to redox regulation. This review will give an update of recent discoveries in this field, and specifically highlight the impact of reactive oxygen and nitrogen species on DNA repair systems that contribute to genomic stability. Emphasis will be placed …
Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
2013
Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P(2) levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense substitutions failed to correct the vacuolar phenotype of Fig4-null mouse fibroblasts. Homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarg…
Foreste a tavola:i consumi alimentari inducono la crescente deforestazione tropicale e sub-tropicale anche in Italia
2021
L’agricoltura costituisce da sempre una grande minaccia per gli ecosistemi naturali del nostro pianeta,e non solo in quanto attività umana essenziale per la produzione di cibo. Attualmente, in particolarenella regione tropicale e sub-tropicale, le attività agricole sono fattori di pressione cruciali per il mantenimentodei cicli di vita di ecosistemi essenziali per la biosfera, complessi e resilienti, come le foreste. Lesocietà contemporanee, essenzialmente urbane e sempre più disconnesse dai processi naturali ed ecologici,tendono a dimenticare, o semplicemente non considerare, le responsabilità di queste pressioni insostenibili.Tra le maggiori cause di deforestazione, quattro commodities ri…
Decomposing regional business change at plant level in Italy: A novel spatial shift-share approach
2013
type="main" xml:lang="es"> En este articulo se analiza la descomposicion espacial de cambios (shift-share) aplicada a datos italianos sobre cambios en los negocios regionales a nivel de planta, durante el periodo 2004–2009. Aqui se introduce un nuevo tipo de descomposicion espacial, que gestiona mas eficazmente la influencia del vecindario. De la investigacion empirica aparecen resultados notables. En primer lugar, se observo que el nivel de agregacion espacial afecta grandemente los resultados. En segundo lugar, se encontraron pruebas de una ventaja de vecindario en las regiones meridionales NUTS 3, a la vez que resultados opuestos para las regiones centro-norte NUTS 3. Finalmente, solo se…
The Impact of a Change in Employment on Three Work-Related Diseases: A Retrospective Longitudinal Study of 10,530 Belgian Employees
2020
BACKGROUND: The literature that has investigated to what extent a change in employment contributes to good health is contradictory or shows inconsistent results. The aim of this study was to investigate whether an association exists between a change in employment and cardiovascular, musculoskeletal and neuropsychological diseases in a sample of 10,530 Belgian workers in a seven-year follow-up study period. METHODS: The following factors were analysed: Demographic variables, a change in employment and the work-related risks. Individuals being on medication for cardiovascular, musculoskeletal, and neuropsychological diseases were used as proxies for the three health issues. Logistic regressio…
355 Night shift work and prostate cancer risk in a population-based case-control study in Spain
2013
Objectives Recent epidemiologic and animal data indicate that night work may increase the risk of cancer and specifically breast cancer. There is limited evidence on other hormone related cancers. We evaluated prostate cancer risk and night shift work in a population based case-control study in Spain, the MCC-Spain. Methods Incident prostate cancer cases (n = 1117) and randomly selected population controls (n = 1165) were enrolled in 7 regions of Spain. Lifetime occupational history including details on shift work, and information on lifestyle factors were assessed by face-to-face interviews. We estimated the risk of different shift profiles using unconditional logistic regression models ad…
Characterization of a novel open reading frame, urf a, in the mitochondrial genome of fission yeast: correlation of urf a mutations with a mitochondr…
1991
Between the genes for tRNA(gin) and tRNA(ile) an open reading frame of 227 amino acids has been identified which is unique among known mitochondrial genomes and which has been termed urf a (Lang et al. 1983; Kornrumpf et al. 1984). It uses the "mitochondrial" genetic code, i.e., it contains a TGA codon, whereas all other protein-encoding genes, and all but one intronic open reading frame, use the "standard" genetic code (UGG for tryptophan). A previous paper has demonstrated that "mutator" strains show an increased formation of mitochondrial drug-resistant and respiration-deficient mutants (including deletions). In this paper we show that the mutator activity is correlated with mutations in…
Review of the relationship between aggregates geology and Los Angeles and micro-Deval tests
2021
Rock aggregates constitute the enormous volume of inert construction material used around the globe. The petrologic description as igneous, sedimentary, and metamorphic types establishes the intrinsic formation pattern of the parent rock. The engineering properties of these rocks vary due to the differences in the transformation process (e.g. hydrothermal deposits) and weathering effect. The two most common mechanical tests used to investigate the performance of aggregates are the Los Angeles (LA) and micro-Deval (MD) tests. This study reviewed the geological parameters (including mineralogy, grain and crystal size, grain shape, and porosity) and the relationship to Los Angeles and micro-De…