Search results for "vitamin A"

showing 10 items of 84 documents

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

2018

SUMMARY Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. T…

0301 basic medicineMaleNon-Mendelian inheritanceProtein Foldingcongenital eye defectEye Diseasesgenetic structuresNATIVE DISULFIDE BONDSMedical PhysiologyRetinoic acidReproductive health and childbirth413 Veterinary scienceMicrophthalmiavitamin Achemistry.chemical_compoundPlasmaA-vitamiini2.1 Biological and endogenous factorsMicrophthalmosPrealbuminCRYSTAL-STRUCTUREAetiologyBase Pairinglcsh:QH301-705.5Sequence DeletionPediatricwhole genome sequencingVITAMIN-A-DEFICIENCYANOPHTHALMIAPenetrancePedigreemedicine.anatomical_structurePhenotypeFemalemedicine.medical_specialtyGenotypeENDOPLASMIC-RETICULUMGenes RecessiveMETABOLISMBiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesDogscanine geneticsInternal medicinePlacentaRETINOL-BINDING-PROTEINGeneticsmedicineAnimalsHumansRecessiveMALFORMATIONSBIOCHEMICAL BASISAmino Acid SequenceAlleleEye Disease and Disorders of VisionNutritiongenome-wide association study030102 biochemistry & molecular biologywestern blottingMUTATIONSta1184RBP4maternal inheritancemedicine.diseaseRetinol-Binding ProteinsRetinol binding proteinnuclear magnetic resonance030104 developmental biologyEndocrinologychemistryGeneslcsh:Biology (General)microphthalmiaGenetic LociHela Cells1182 Biochemistry cell and molecular biologyCongenital Structural Anomalies3111 BiomedicineBiochemistry and Cell BiologyDigestive DiseasesGenomic imprintingRetinol-Binding Proteins PlasmaHeLa Cells
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Vitamin A Deficiency and the Lung.

2018

Vitamin A (all-trans-retinol) is a fat-soluble micronutrient which together with its natural derivatives and synthetic analogues constitutes the group of retinoids. They are involved in a wide range of physiological processes such as embryonic development, vision, immunity and cellular differentiation and proliferation. Retinoic acid (RA) is the main active form of vitamin A and multiple genes respond to RA signalling through transcriptional and non-transcriptional mechanisms. Vitamin A deficiency (VAD) is a remarkable public health problem. An adequate vitamin A intake is required in early lung development, alveolar formation, tissue maintenance and regeneration. In fact, chronic VAD has b…

0301 basic medicineVitamincollagenLung DiseasesEpithelial-Mesenchymal Transitionextracellular matrixRetinoic acidlcsh:TX341-641Reviewepithelial–mesenchymal transitionlungExtracellular matrix03 medical and health scienceschemistry.chemical_compound0302 clinical medicineRisk Factorsretinoic acidMedicineAnimalsHumans030212 general & internal medicineVitamin AN-cadherinpulmonary diseaseNutrition and DieteticsLungbusiness.industryVitamin A DeficiencyRegeneration (biology)RetinolE-cadherinMicronutrientmedicine.diseaseVitamin A deficiency030104 developmental biologymedicine.anatomical_structureE-cadherin N-cadherin Vitamin A deficiency collagen epithelial–mesenchymal transition extracellular matrix lung pulmonary disease retinoic acid retinolchemistryImmunologyAirway Remodelingbusinesslcsh:Nutrition. Foods and food supplyFood ScienceretinolSignal Transduction
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Rescue of Hypovitaminosis A Induces Non-Amyloidogenic Amyloid Precursor Protein (APP) Processing.

2015

Retinoic acid, the bioactive metabolite of beta-carotene or vitamin A, plays a pleiotropic, multifunctional role in vertebrate development. Studies in rodents revealed that a diet deficient in vitamin A results in a complex neonatal syndrome (the VAD syndrome), manifested in many organs. In humans, the function of retinoic acid (RA) extends into adulthood, where it has important roles in fertility, vision, and suppression of neoplastic growth. In recent years, it has also been suggested that retinoic acid might potentially act as a therapeutically relevant drug in attenuating or even preventing neurodegenerative diseases such as Alzheimer's disease (AD). Here, we report that VAD leads to an…

0301 basic medicineVitaminmedicine.medical_specialtyADAM10Retinoic acidTretinoin03 medical and health scienceschemistry.chemical_compoundADAM10 ProteinAmyloid beta-Protein PrecursorMiceNeuroblastoma0302 clinical medicineKeratolytic AgentsTretinoinInternal medicineNeuroblastomaGene expressionPresenilin-2medicineAmyloid precursor proteinAnimalsHumansGene Regulatory NetworksRats WistarCells CulturedCerebral CortexNeuronsAmyloid beta-PeptidesbiologyVitamin A Deficiencymedicine.diseaseAcitretinPeptide FragmentsVitamin A deficiencyDisease Models Animal030104 developmental biologyEndocrinologyNeurologychemistryAnimals Newbornbiology.proteinFemaleNeurology (clinical)030217 neurology & neurosurgerymedicine.drugCurrent Alzheimer research
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Role of Vitamin A in Mammary Gland Development and Lactation

2019

Vitamin A (all-trans-retinol), its active derivatives retinal and retinoic acid, and their synthetic analogues constitute the group of retinoids. It is obtained from diet either as preformed vitamin A or as carotenoids. Retinal plays a biological role in vision, but most of the effects of vitamin A are exerted by retinoic acid, which binds to nuclear receptors and regulates gene transcription. Vitamin A deficiency is an important nutritional problem, particularly in the developing world. Retinol and carotenoids from diet during pregnancy and lactation influence their concentration in breast milk, which is important in the long term, not only for the offspring, but also for maternal health. …

0301 basic medicineVitaminmedicine.medical_specialtymedicine.drug_classMammary glandRetinoic acidlcsh:TX341-641ReviewBreast milkBiologyvitamin A03 medical and health scienceschemistry.chemical_compoundMammary Glands AnimalPregnancyLactationInternal medicinemedicineretinoic acidinvolutionAnimalsHumansLactationRetinoidMammary Glands Human030109 nutrition & dieteticsNutrition and DieteticsMilk HumanVitamin A DeficiencyweaningRetinolNutritional Requirementsmedicine.diseaseCarotenoidsDietVitamin A deficiency030104 developmental biologymedicine.anatomical_structureEndocrinologychemistryFemalelcsh:Nutrition. Foods and food supplylactating mammary glandFood ScienceNutrients
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Hypertension and the Fat-Soluble Vitamins A, D and E

2015

Hypertension affects populations globally and is thus a public health and socio-economic problem. Macronutrient and micronutrient deficiencies are common in the general population, and may be even more prevalent in hypertensive patients. This study aimed to determine a possible association between hypertension and intake of fat-soluble vitamins A, D and E. Participants were from the cross-sectional Hortega nutrition study conducted with a random sample of 1514 people (50.3% women, 49.7% men) and two groups: nonhypertensive controls ≥40 years old (n = 429

AdultMaleGerontologyVitamineshypertensionAlcohol DrinkingCross-sectional studyHealth Toxicology and Mutagenesismedicine.medical_treatmentPopulationNutritional StatusPhysiologylcsh:MedicineArticleSurveys and QuestionnairesVitamin D and neurologyHumansVitamin EMedicineVitamin DVitamin AeducationNutricióAgedMineralseducation.field_of_studybusiness.industryVitamin ESmokinglcsh:RPublic Health Environmental and Occupational Healthfat-soluble vitaminVitaminsnutritional deficiencyMiddle AgedAnthropometryNutrition SurveysMicronutrientDietCross-Sectional StudiesFat-Soluble VitaminSocial ClassFemaleAnalysis of variancebusinessInternational Journal of Environmental Research and Public Health
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Oxidant and antioxidant status in mothers and their newborns according to birthweight

2008

The aim of this study is to determine the oxidant and antioxidant status in Algerian mothers and their newborns according to birth weight.Subjects for the study were consecutively recruited from Tlemcen hospital. 139 pregnant women and their newborns were included. The plasma total antioxidant activity (ORAC), vitamins A, C, E, hydroperoxides, carbonyl proteins, and erythrocyte antioxidant enzyme activities (catalase, glutathione peroxidase, glutathione reductase and superoxide dismutase) were measured on mothers and their newborns. Lipid and lipoprotein parameters were also determined. The results were assessed in accordance with small for gestational age (SGA), appropriate (AGA) and large…

AdultMalePediatricsmedicine.medical_specialtyErythrocytesAntioxidantLipoproteinsmedicine.medical_treatmentBirth weightGlutathione reductaseIntrauterine growth restrictionPhysiologyAscorbic AcidAntioxidantsPregnancymedicineBirth WeightHumansVitamin EVitamin Achemistry.chemical_classificationGlutathione PeroxidaseFetal Growth RetardationSuperoxide Dismutasebusiness.industryVitamin EGlutathione peroxidaseInfant NewbornObstetrics and GynecologyCatalaseOxidantsmedicine.diseaseAscorbic acidLipidsOxidative StressGlutathione ReductaseReproductive MedicinechemistryInfant Small for Gestational AgeSmall for gestational ageFemalebusinessEuropean Journal of Obstetrics & Gynecology and Reproductive Biology
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Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia

2008

Abstract Objective Familial hypobetalipoproteinemia (FHBL) is characterized by inherited low plasma levels of apolipoprotein B (apoB)-containing lipoproteins. In this paper we investigated whether the already described APOB R463W missense mutation, a FHBL mutation able to impair the activity of microsomal triglyceride transfer protein (MTP), may cause intestinal fat accumulation and reduced postprandial lipemia. Methods Four out of five probands harboring APOB R463W mutation were compared with six healthy controls and six patients with celiac disease (CD). An oral fat load supplemented with retinyl palmitate (RP) was administered and a gastro-duodenal endoscopy with biopsy was performed. Re…

AdultMaleRetinyl Estersmedicine.medical_specialtySettore MED/09 - Medicina InternaAdolescentApolipoprotein BMutation MissenseapolipoproteinBlood lipidsHyperlipidemiasIntra-Abdominal FatBiologyMicrosomal triglyceride transfer proteinchemistry.chemical_compoundRetinyl palmitateInternal medicinemedicineHumansMissense mutationIntestinal MucosaChildVitamin ATriglyceridesApolipoproteins BTriglycerideMiddle AgedLipid MetabolismPostprandial Periodmedicine.diseasePostprandialEndocrinologychemistryHypobetalipoproteinemia Familial Apolipoprotein BB R463Wbiology.proteinFemalelipids (amino acids peptides and proteins)HypobetalipoproteinemiaDiterpenesCarrier ProteinsCardiology and Cardiovascular MedicineAtherosclerosis
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Oral supplements of vitamin E improve measures of oxidative stress in plasma and reduce oxidative damage to LDL and erythrocytes in β-thalassemia int…

2001

Fifteen beta-thalassemia intermedia patients, not requiring chronic transfusional therapy, were monitored in order to check their antioxidant status, and the lipid oxidation products in plasma, LDL, and erythrocytes before and during a 9-month oral treatment with 600 mg/day vitamin E. The low level of vitamin E, and high level of malondialdehyde in plasma clearly tended to normalize after three months (P < .001), and were quite similar to control after six months. The abnormally low level of vitamin E in LDL and the four times higher than control basal level of conjugated dienes (LDL-CD), were not modified after three months of treatment. Significant changes of LDL-VE (P < .05) and of the b…

AdultMaleVitaminmedicine.medical_specialtyErythrocytesAntioxidantAdolescentmedicine.medical_treatmentAdministration OralHematocritBiochemistryAntioxidantsLipid peroxidationchemistry.chemical_compoundLipid oxidationReference ValuesInternal medicinemedicineHumansVitamin EChildVitamin Amedicine.diagnostic_testVitamin EOsmolar Concentrationbeta-ThalassemiaGeneral MedicineMiddle Agedbeta CaroteneMalondialdehydeLipidsLipoproteins LDLOxidative StressEndocrinologychemistryCase-Control StudiesFemaleHemoglobinFree Radical Research
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Retinol oxidation to retinoic acid in human thyroid glandular cells.

2014

Abstract Retinoic acid is regarded as the retinol metabolite that controls proliferation and differentiation of epithelial cells. In the present study, we investigated the potential role of xanthine dehydrogenase (XDH) in retinoic acid biosynthesis in human thyroid glandular cells (HTGC). In particular, we observed that cellular retinoids binding proteins (CRBPs) are also implicated in the biosynthetic pathway leading to retinoic acid formation in primary cultures of HTGC, as we have already reported for human mammary epithelial cells (HMEC). After partial protein purification, the enzyme responsible for retinoic acid biosynthesis was identified and quantified as XDH by immunoassay, by its …

AdultMaleXanthine DehydrogenasePrimary Cell CultureRetinoic acidThyroid GlandOxypurinolRetinoic acid receptor betaTretinoinBiologyXanthinechemistry.chemical_compoundBiosynthesisSettore BIO/10 - BiochimicaDrug DiscoveryHumansEnzyme InhibitorsVitamin AEnzyme AssaysPharmacologyImmunoassayRetinolEpithelial CellsRetinol-Binding Proteins CellularGeneral MedicineMiddle AgedXanthineUric AcidRetinoic acid receptorchemistryXanthine dehydrogenaseBiochemistryCRABPs CRBPs human glandular cells. retinoic acid biosynthesis. retinol oxidation xanthine dehydrogenaseUric acidFemaleOxidation-ReductionJournal of enzyme inhibition and medicinal chemistry
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Low-density lipoproteins generated during an oral fat load in mild hypertriglyceridemic and healthy subjects are smaller, denser, and have an increas…

2005

Triglyceride-rich lipoproteins generated during the postprandial phase are atherogenic. Large very low-density lipoproteins (LDLs) or chylomicrons (CMs) are not as atherogenic as their remnants (Rem). Small and dense LDLs are associated with cardiovascular disease. Low-density lipoprotein size is partly under genetic control and is considered as a relatively stable LDL feature. In this article, we present data on retinyl palmitate kinetics correlated with the modification of LDL features in terms of size, density, and in vitro receptor binding affinity after an oral fat load. Six nondiabetic, hypertriglyceridemic (HTG) patients and 6 healthy controls were examined. Low-density lipoprotein s…

AdultMalemedicine.medical_specialtyRetinyl EstersSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismBinding CompetitiveModels Biologicalchemistry.chemical_compoundEndocrinologyInternal medicineRetinyl palmitateCell Line TumorChylomicronsmedicineHumansReceptorVitamin AHypertriglyceridemiaLow-density lipoproteins hypertriglyceridemia Fasting and postprandial LDLsTriglycerideCatabolismChemistryFastingFibroblastsPostprandial PeriodDietary FatsLipidsLipoproteins LDLKineticsEndocrinologyPostprandialReceptors LDLlipids (amino acids peptides and proteins)Density gradient ultracentrifugationElectrophoresis Polyacrylamide GelFemaleDiterpenesUltracentrifugationLipoproteinChylomicronMetabolism: clinical and experimental
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