Search results for "Normal"

showing 10 items of 2571 documents

Defective insulin secretory response to intravenous glucose in C57Bl/6J compared to C57Bl/6N mice

2014

Objective: The C57Bl/6J (Bl/6J) mouse is the most widely used strain in metabolic research. This strain carries a mutation in nicotinamide nucleotide transhydrogenase (Nnt), a mitochondrial enzyme involved in NADPH production, which has been suggested to lead to glucose intolerance and beta-cell dysfunction. However, recent reports comparing Bl/6J to Bl/6N (carrying the wild-type Nnt allele) under normal diet have led to conflicting results using glucose tolerance tests. Thus, we assessed glucose-stimulated insulin secretion (GSIS), insulin sensitivity, clearance and central glucose-induced insulin secretion in Bl/6J and N mice using gold-standard methodologies. Methods: GSIS was measured u…

Genetically modified mouseFSIVGTT frequently sampled intravenous glucose tolerance testmedicine.medical_specialtylcsh:Internal medicineinsulin secretionNormal dietDI disposition indexOGTT oral glucose tolerance testmedicine.medical_treatment[ SDV.AEN ] Life Sciences [q-bio]/Food and Nutritionbeta-cellBrief Communicationmedicine.disease_cause[ SDV.BA ] Life Sciences [q-bio]/Animal biologyGSIS glucose-stimulated insulin secretiongenetic backgroundGIR glucose infusion rateInternal medicinemedicineInsulin-degrading enzymeIDE insulin degrading enzymeFood and Nutritioninsulin sensitivityInsulin secretionlcsh:RC31-1245Molecular BiologyEndocrinology and metabolismMutationMI insulin sensitivity indexbusiness.industryInsulin[SDV.BA]Life Sciences [q-bio]/Animal biologyInsulin sensitivityCell BiologyNNT nicotinamide nucleotide transhydrogenaseEndocrinologyIVGTT intravenous glucose tolerance testAlimentation et NutritionEndocrinologie et métabolismemouse strainBeta cellbusiness[SDV.AEN]Life Sciences [q-bio]/Food and Nutritionbeta-cell;insulin secretion;insulin sensitivity;genetic background;mouse strain
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Effects of eight weeks of time-restricted feeding (16/8) on basal metabolism, maximal strength, body composition, inflammation, and cardiovascular ri…

2016

Background: Intermittent fasting (IF) is an increasingly popular dietary approach used for weight loss and overall health. While there is an increasing body of evidence demonstrating beneficial effects of IF on blood lipids and other health outcomes in the overweight and obese, limited data are available about the effect of IF in athletes. Thus, the present study sought to investigate the effects of a modified IF protocol (i.e. time-restricted feeding) during resistance training in healthy resistance-trained males. Methods: Thirty-four resistance-trained males were randomly assigned to time-restricted feeding (TRF) or normal diet group (ND). TRF subjects consumed 100 % of their energy needs…

Genetics and Molecular Biology (all)0301 basic medicineAdultMalemedicine.medical_specialtyCalorieTime FactorsNormal dietBody builders; Body composition; Fasting; Intermittent fasting; Resistance training; Time-restricted feeding; Medicine (all); Biochemistry Genetics and Molecular Biology (all)Blood lipidsPhysiology030209 endocrinology & metabolismIntermittent fastingOverweightBody buildersBiochemistryBody compositionGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineWeight lossRisk FactorsInternal medicineTime-restricted feedingIntermittent fastingmedicineHumansResting energy expenditureMuscle StrengthCaloric RestrictionMedicine(all)InflammationBiochemistry Genetics and Molecular Biology (all)030109 nutrition & dieteticsbusiness.industryBiochemistry Genetics and Molecular Biology(all)Medicine (all)ResearchResistance TrainingGeneral MedicineFeeding BehaviorFastingEndocrinologyCardiovascular DiseasesBasal metabolic rateBasal Metabolismmedicine.symptomBody builderbusinessJournal of translational medicine
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Insensitivity of Tree-Ring Growth to Temperature and Precipitation Sharpens the Puzzle of Enhanced Pre-Eruption NDVI on Mt. Etna (Italy)

2017

On Mt. Etna (Italy), an enhanced Normalized Difference in Vegetation Index (NDVI) signature was detected in the summers of 2001 and 2002 along a distinct line where, in November 2002, a flank eruption subsequently occurred. These observations suggest that pre-eruptive volcanic activity may have enhanced photosynthesis along the future eruptive fissure. If a direct relation between NDVI and future volcanic eruptions could be established, it would provide a straightforward and low-cost method for early detection of upcoming eruptions. However, it is unclear if, or to what extent, the observed enhancement of NDVI can be attributed to volcanic activity prior to the subsequent eruption. We conse…

Genetics and Molecular Biology (all)Atmospheric ScienceLateral eruption010504 meteorology & atmospheric sciencesClimateRainlcsh:MedicinePlant ScienceMedicine (all); Biochemistry Genetics and Molecular Biology (all); Agricultural and Biological Sciences (all)010502 geochemistry & geophysicsAtmospheric sciencesBiochemistry01 natural sciencesTreesClimate; Environmental temperature; Italy; Photosynthesis; Precipitation; Quantitative study; Summer; Tree growth; Vegetation; Volcano; Water availability; Water vaporSnow910 Geography & travelPhotosynthesislcsh:ScienceMultidisciplinarygeography.geographical_feature_categoryPlant BiochemistryMedicine (all)TemperatureGeologyVegetationPlantsSpring10122 Institute of GeographyItalyVolcanoesSeasonsWater vaporResearch ArticleGeneral Science & TechnologyNatural DisastersSummerVolcanology1100 General Agricultural and Biological SciencesVolcanic EruptionsNormalized Difference Vegetation IndexMeteorology1300 General Biochemistry Genetics and Molecular BiologyDendrochronologyPrecipitation0105 earth and related environmental sciences1000 Multidisciplinarygeographylcsh:ROrganismsBiology and Life Sciences15. Life on landAgricultural and Biological Sciences (all)Volcano13. Climate actionMagmaEarth SciencesEnvironmental sciencelcsh:QPLOS ONE
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Infectious transfer of a fertility factor inStreptomyces coelicolor

1973

SUMMARYInitial Fertility (IF) strains ofStreptomyces coelicolorare able to convert recipient strains (UF) to the IF condition by contact, without concomitant transfer of chromosomal markers. The conversion is prevented by the presence of acridine orange in the medium of the mixed culture. Acridine orange is also moderately effective in inducing the formation of UF variants from IF-treated strains. No effect of the drug is observed on UF variant formation from Normal Fertility (NF) strains nor on the behaviour of the fertility factor in NF × UF mixed cultures. The hypothesis is put forward that the fertility factor works as an episome inS. coelicolor, fixed to the chromosome in the NF strain…

Genetics MicrobialGeneticsFertility factor (bacteria)biologymedia_common.quotation_subjectStreptomyces coelicolorAcridine orangeChromosomeFertilityGeneral MedicineNormal fertilitybiology.organism_classificationStreptomyceschemistry.chemical_compoundFertilitychemistryMixed cultureGeneticsCrossing Over GeneticAllelesmedia_commonGenetical Research
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Bypassing hazard of housekeeping genes: their evaluation in rat granule neurons treated with cerebrospinal fluid of multiple sclerosis subjects

2015

Gene expression studies employing real-time PCR has become an intrinsic part of biomedical research. Appropriate normalization of target gene transcript(s) based on stably expressed housekeeping genes is crucial in individual experimental conditions to obtain accurate results. In multiple sclerosis (MS), several gene expression studies have been undertaken, however, the suitability of housekeeping genes to express stably in this disease is not yet explored. Recent research suggests that their expression level may vary under different experimental conditions. Hence it is indispensible to evaluate their expression stability to accurately normalize target gene transcripts. The present study ai…

GeneticsBeta-2 microglobulinbusiness.industryMultiple sclerosishousekeeping genesNormFinderTransferrin receptorComputational biologymedicine.diseasemultiple sclerosislcsh:RC321-571Housekeeping geneGeNormCellular and Molecular NeuroscienceReal-time polymerase chain reactionnormalizationReference genesGene expressionmedicinebusinesslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryGeneOriginal ResearchNeuroscience
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De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skel…

2007

A boy with severe mental retardation, funnel chest, bell-shaped thorax, and hexadactyly of both feet was found to have a balanced de novo t(12;17)(p13.3;q21.3) translocation. FISH with BAC clones and long-range PCR products assessed in the human genome sequence localized the breakpoint on chromosome 17q21.3 to a 21-kb segment that lies <30 kb upstream of the HOXB gene cluster and immediately adjacent to the 3′ end of the TTLL6 gene. The breakpoint on chromosome 12 occurred within telomeric hexamer repeats and, therefore, is not likely to affect gene function directly. We propose that juxtaposition of the HOXB cluster to a repetitive DNA domain and/or separation from required cis-regulatory …

GeneticsMaleChromosomes Human Pair 12Developmental DisabilitiesBreakpointGenes HomeoboxChromosomeChromosome MappingChromosomal translocationChromosome BreakageBiologyTranslocation GeneticMusculoskeletal AbnormalitiesPosition effectChild PreschoolGene clusterGeneticsHumansHuman genomeGeneGenetics (clinical)Chromosome 12Chromosomes Human Pair 17European journal of human genetics : EJHG
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Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth

2012

Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe). Here we address the findings of a genetic study of 29 Gypsy Spanish families with autosomal recessive demyelinating CMT. The most frequent form is CMT4C (57.14%), followed by HMSN-Russe (25%) and HMSN-Lom (17.86%). The relevant frequency of HMSN-Russe has allowed us to inv…

GeneticsProbandcongenital hereditary and neonatal diseases and abnormalitiesWeaknesseducation.field_of_studyHaplotypePopulationBiologymedicine.diseaseTooth diseaseDistal sensory lossGeneticsmedicinemedicine.symptomeducationHereditary motor and sensory neuropathyFounder mutationGenetics (clinical)Clinical Genetics
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Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population

1999

The LDL-receptor gene point mutation FH-Genoa/Palermo is the most frequent mutation responsible for Familial Hypercholesterolemia in Sicily. The mutation does not introduce or abolish any useful restriction site. We establish a GeneComb-based strategy to identify this mutation in a population of Sicilian unrelated clinically diagnosed FH probands. The method was very sensitive and specific; 12 out of 90 (13.3%) unrelated FH probands were found to carry the FH-Genoa/Palermo mutation. According to these results, the FH-Genoa/Palermo is the more frequent LDL-receptor gene mutation among the Sicilian FH patients. Moreover FH-Genoa/Palermo is the mutation cluster to date more represented in Sout…

GeneticsProbandcongenital hereditary and neonatal diseases and abnormalitieseducation.field_of_studyPoint mutationPopulationnutritional and metabolic diseasesFamilial hypercholesterolemiaGene mutationBiologymedicine.diseaseRestriction siteLDL receptorMutation (genetic algorithm)Geneticsmedicineskin and connective tissue diseaseseducationGenetics (clinical)Human Mutation
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Cytogenetic response induced by interferon alpha in the myeloproliferative disorder with eosinophilia, T cell lymphoma and the chromosomal translocat…

1998

Cytogenetic response induced by interferon alpha in the myeloproliferative disorder with eosinophilia, T cell lymphoma and the chromosomal translocation t(8;13)(p11;q12)

Geneticscongenital hereditary and neonatal diseases and abnormalitiesCancer ResearchAlpha interferonChromosomal translocationHematologyBiologymedicine.diseaseCytogenetic ResponseLymphomaOncologyhemic and lymphatic diseasesCancer researchmedicineEosinophiliaT-cell lymphomamedicine.symptomLeukemia
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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

1996

Imprinting on human chromosome 15 is regulated by an imprinting centre, which has been mapped to a 100–kb region including exon 1 of SNRPN. From this region we have identified novel transcripts, which represent alternative transcripts of the SNRPN gene. The novel exons lack protein coding potential and are expressed from the paternal chromosome only. We have also identified intragenic deletions and a point mutation in patients who have Angelman or Prader–Willi syndrome due to a parental imprint switch failure. This suggests that imprint switching on human chromosome 15 may involve alternative SNRPN transcripts.

Geneticscongenital hereditary and neonatal diseases and abnormalitiesChromosome 15ExonAlternative splicingHappy puppet syndromeGeneticsBiologyImprinting (psychology)Genomic imprintingGeneSNRPN GeneNature Genetics
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