Search results for " SPECT"

showing 10 items of 11464 documents

Sema3a plays a role in the pathogenesis of CHARGE syndrome

2018

CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. Both features are common in CHARGE syndrome suggesting that SEMA3A may provide a genetic link between these syndromes. Indeed, we find evidence that SEMA3A plays a role in the pathogenesis of CHARGE syndrome. First, Chd7 is enriched at the Sema3a promotor in neural crest cells and loss of function of Chd7 inhibits Sema3a expression…

0301 basic medicineEmbryo NonmammalianKallmann syndromePHENOTYPIC SPECTRUMmedicine.disease_causeSeverity of Illness IndexEpigenesis GeneticPathogenesisAXON GUIDANCECHD7CHARGE syndromeXenopus laevis0302 clinical medicineHYPOGONADOTROPIC HYPOGONADISMPromoter Regions GeneticGenetics (clinical)GeneticsMutationGeneral MedicinePhenotypeDNA-Binding ProteinsNEURAL CREST CELLSNeural CrestHomeobox Protein Nkx-2.5MIGRATIONBiology03 medical and health sciencesHypogonadotropic hypogonadismKALLMANN-SYNDROMEGeneticsmedicineAnimalsHumansEpigeneticsSHORT STATUREMolecular BiologyLoss functionMUTATIONSGenetic Complementation TestDNA HelicasesSemaphorin-3AKallmann Syndromemedicine.diseaseDisease Models Animal030104 developmental biologyHEK293 CellsXENOPUS-EMBRYOSMutationCHARGE Syndrome030217 neurology & neurosurgery
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Heterogeneous nuclear ribonucleoprotein C1 may control miR-30d levels in endometrial exosomes affecting early embryo implantation.

2018

Study question Is there a specific mechanism to load the microRNA (miRNA), hsa-miR-30d, into exosomes to facilitate maternal communication with preimplantation embryos? Summary answer The heterogeneous nuclear ribonucleoprotein C1 (hnRNPC1) is involved in the internalization of endometrial miR-30d into exosomes to prepare for its subsequent incorporation into trophectoderm cells. What is known already Our group previously described a novel cell-to-cell communication mechanism involving the delivery of endometrial miRNAs from the maternal endometrium to the trophectoderm cells of preimplantation embryos. Specifically, human endometrial miR-30d is taken up by murine blastocysts causing the ov…

0301 basic medicineEmbryologyHeterogeneous nuclear ribonucleoproteinBiologyExosomesFlow cytometry03 medical and health sciencesEndometriumMiceTandem Mass SpectrometryGeneticsmedicineAnimalsHumansBlastocystEmbryo ImplantationMolecular Biologymedicine.diagnostic_testHeterogeneous-Nuclear Ribonucleoprotein Group CObstetrics and GynecologyEmbryoCell BiologyTransfectionMolecular biologyEmbryonic stem cellMicrovesiclesCoculture TechniquesBlotMicroRNAs030104 developmental biologymedicine.anatomical_structureReproductive MedicineFemaleDevelopmental BiologyMolecular human reproduction
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ATR expands embryonic stem cell fate potential in response to replication stress

2020

Fondazione Italiana per la Ricerca sul Cancro FIRC 18112 Sina Atashpaz.Fondazione Umberto Veronesi Sina Atashpaz Associazione Italiana per la Ricerca sul Cancro AIRC 5xmille METAMECH program Vincenzo Costanzo Giovanni Armenise-Harvard Foundation Vincenzo Costanzo European Research Council Consolidator grant 614541 Vincenzo Costanzo Associazione Italiana per la Ricerca sul Cancro Fellowship 23961 Negar ArghavanifarDanish Cancer Society KBVU-2014 Andres Joaquin Lopez-Contreras Danish Council for Independent Research Sapere Aude, DFF Starting Grant 2014 Andres Joaquin Lopez-Contreras European Research Council ERC-2015-STG-679068 Andres Joaquin Lopez-Contreras Danish National Research Foundatio…

0301 basic medicineEndogenyAtaxia Telangiectasia Mutated ProteinsMice0302 clinical medicineTandem Mass SpectrometryTranscription (biology)GENE ATRcell biologyCloning MolecularBiology (General)Cells Cultured0303 health sciencesGeneral NeuroscienceQRTotipotentCell DifferentiationEmbryoGeneral MedicineCell biologyMedicinebiological phenomena cell phenomena and immunityResearch ArticleQH301-705.5replication stressDNA damageScienceSettore MED/08 - Anatomia PatologicaBiologyGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesAnimalsRNA MessengerGeneEmbryonic Stem CellsmouseCell Proliferation030304 developmental biologyMessenger RNAGeneral Immunology and MicrobiologyChimeraSequence Analysis RNAEmbryogenesisTELOMERE ELONGATIONEPIGENETIC RESTRICTIONembryonic stem cellEmbryonic stem cellATR030104 developmental biologyGene Expression RegulationDNA-DAMAGECheckpoint Kinase 1GENOMIC STABILITY030217 neurology & neurosurgeryChromatography LiquidDNA DamageeLife
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ESI-MS2and Anti-inflammatory Studies of Cyclopropanic Triterpenes. UPLC-ESI-MS and MS2Search of Related Metabolites fromDonella ubanguiensis

2016

Introduction Triterpenes are one of the largest secondary metabolites groups spread in the plant kingdom with various skeletons. These metabolites have showed various bioactivities including anti-inflammatory activity. Objective The study aims to explore the mass spectrometry fragmentation of donellanic acids A-C (DA A–C), three compounds identified from Donella ubanguiensis; in addition, the fragmentation behaviour of these metabolites will serve as a fingerprint to search and characterise triterpenes congeners in fruits, bark and wood crude extracts of D. ubanguiensis. This work was prompted by the anti-inflammatory activity on leukocyte migration, exudate concentrations and myeloperoxida…

0301 basic medicineExudateLeukocyte migrationmedicine.drug_classPlant ScienceMass spectrometry01 natural sciencesBiochemistryAnti-inflammatoryAnalytical ChemistryTerpene03 medical and health scienceschemistry.chemical_compoundLiquid chromatography–mass spectrometryDrug DiscoverymedicineChromatography010405 organic chemistryChemistryGeneral Medicine0104 chemical sciencesCarrageenan030104 developmental biologyComplementary and alternative medicinevisual_artvisual_art.visual_art_mediumMolecular MedicineBarkmedicine.symptomFood SciencePhytochemical Analysis
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Autism is a prenatal disorder: Evidence from late gestation brain overgrowth

2018

This retrospective study aimed to specify the critical period for atypical brain development in individuals with autism spectrum disorder (ASD) using prenatal and postnatal head growth parameters. The sample consisted of 80 Caucasian, unrelated, idiopathic patients with ASD born after 1995. Fetal ultrasound parameters (head circumference [HC], abdominal circumference, and femur length) were obtained during the second and third trimesters of gestation. HC at birth and postnatal parameters at 12 and 24 months of age were also collected. Head overgrowth, assessed by HC, was highlighted during the second (20-26 weeks of amenorrhea) and third (28-36 weeks of amenorrhea) trimesters. Normal growth…

0301 basic medicineFetusPediatricsmedicine.medical_specialtybusiness.industryGeneral Neurosciencemedicine.disease03 medical and health sciences030104 developmental biology0302 clinical medicineNeurodevelopmental disorderAutism spectrum disorderIn uteromedicineGestationAutismAmenorrheaNeurology (clinical)medicine.symptombusinessPathological030217 neurology & neurosurgeryGenetics (clinical)Autism Research
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Shell palaeoproteomics: first application of peptide mass fingerprinting for the rapid identification of mollusc shells in archaeology.

2020

10 pages; International audience; Molluscs were one of the most widely-used natural resources in the past, and their shells are abundant among archaeological findings. However, our knowledge of the variety of shells that were circulating in prehistoric times (and thus their socio-economic and cultural value) is scarce due to the difficulty of achieving taxonomic determination of fragmented and/or worked remains. This study aims to obtain molecular barcodes based on peptide mass fingerprints (PMFs) of intracrystalline proteins, in order to obtain shell identification. Palaeoproteomic applications on shells are challenging, due to low concentration of molluscan proteins and an incomplete unde…

0301 basic medicineFreshwater bivalve[SHS.ARCHEO]Humanities and Social Sciences/Archaeology and PrehistoryBiophysicsShell (structure)BiologyBiochemistryPeptide Mapping03 medical and health sciencesPeptide mass fingerprintingAnimal Shells[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]Mollusc shellMollusc shellAnimalsPeptide mass fingerprintPeptide-mass fingerprintPhylogenyShellomics030102 biochemistry & molecular biologyPhylogenetic treeMALDI-TOF mass spectrometry; Mollusc shell; Palaeoproteomics; Peptide mass fingerprint; ShellomicsMALDI-TOF mass spectrometryPalaeoproteomicsArchaeologyBivalvia030104 developmental biologyTaxonArchaeologyIdentification (biology)Peptides
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Binary and tertiary combination of alternariol, 3-acetyl-deoxynivalenol and 15-acetyl-deoxynivalenol on HepG2 cells: Toxic effects and evaluation of …

2016

Fungi producers of mycotoxins are able to synthesize more than one toxin. Alternariol (AOH) is one of the mycotoxins produced by several Alternaria species, the most common one being Alternaria alternata. The toxins 3-Acetyl-deoxynivalenol (3-ADON) and 15-Acetyl-deoxynivalenol (15-ADON) are acetylated forms of deoxynivalenol (DON) produced by Fusarium graminearum. In the present work it is determined and evaluated the toxic effects of binary and tertiary combination treatment of HepG2 cells with AOH, 3-ADON and 15-ADON, by using the MTT assay (3-[4,5-dimethylthiazol-2-yl]-2,5 diphenyl tetrazolium bromide), to subsequently apply the isobologram method and elucidate if the mixtures of these m…

0301 basic medicineFusariumCell SurvivalAlternariolToxicologymedicine.disease_causeAlternaria alternata03 medical and health scienceschemistry.chemical_compoundLactones0404 agricultural biotechnologyLiquid chromatography–mass spectrometrymedicineHumansMTT assayMycotoxinChromatographybiologyToxinfood and beverages04 agricultural and veterinary sciencesGeneral MedicineHep G2 Cellsbiology.organism_classification040401 food science030104 developmental biologychemistryAntagonismTrichothecenesToxicology in vitro : an international journal published in association with BIBRA
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The Amino-Terminal Domain of GRK5 Inhibits Cardiac Hypertrophy through the Regulation of Calcium-Calmodulin Dependent Transcription Factors.

2018

We have recently demonstrated that the amino-terminal domain of G protein coupled receptor kinase (GRK) type 5, (GRK5-NT) inhibits NFκB activity in cardiac cells leading to a significant amelioration of LVH. Since GRK5-NT is known to bind calmodulin, this study aimed to evaluate the functional role of GRK5-NT in the regulation of calcium-calmodulin-dependent transcription factors. We found that the overexpression of GRK5-NT in cardiomyoblasts significantly reduced the activation and the nuclear translocation of NFAT and its cofactor GATA-4 in response to phenylephrine (PE). These results were confirmed in vivo in spontaneously hypertensive rats (SHR), in which intramyocardial adenovirus-med…

0301 basic medicineG-Protein-Coupled Receptor Kinase 5MalecalmodulinMutantWistarPlasma protein binding030204 cardiovascular system & hematologyCatalysilcsh:ChemistryPhenylephrine0302 clinical medicineRats Inbred SHRMyocytes Cardiaclcsh:QH301-705.5SpectroscopybiologyChemistrycardiac hypertrophyNFATComputer Science Applications1707 Computer Vision and Pattern RecognitionGeneral MedicineLeft VentricularComputer Science ApplicationsCell biologycardiac hypertrophy; transcription factors; calmodulin; GRKGRKHypertrophy Left VentricularCardiacProtein BindingInbred SHRCalmodulinCalmodulin; Cardiac hypertrophy; GRK; Transcription factors; Animals; Binding Sites; Calmodulin; Cell Line; G-Protein-Coupled Receptor Kinase 5; GATA4 Transcription Factor; Hypertrophy Left Ventricular; Male; Myocytes Cardiac; NFATC Transcription Factors; Phenylephrine; Protein Binding; Rats; Rats Inbred SHR; Rats Wistar; Catalysis; Molecular Biology; Spectroscopy; Computer Science Applications1707 Computer Vision and Pattern Recognition; Physical and Theoretical Chemistry; Organic Chemistry; Inorganic ChemistryCatalysisArticleCell LineInorganic Chemistry03 medical and health sciencesG-Protein-Coupled Receptor Kinase 5transcription factorsAnimalsPhysical and Theoretical ChemistryRats WistarTranscription factorMolecular BiologyG protein-coupled receptor kinaseMyocytesBinding SitesNFATC Transcription FactorsOrganic ChemistryHypertrophyNFATC Transcription FactorsGATA4 Transcription FactorRats030104 developmental biologylcsh:Biology (General)lcsh:QD1-999biology.proteinTranscription factorInternational journal of molecular sciences
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Retrospective Proteomic Screening of 100 Breast Cancer Tissues.

2017

The present investigation has been conducted on one hundred tissue fragments of breast cancer, collected and immediately cryopreserved following the surgical resection. The specimens were selected from patients with invasive ductal carcinoma of the breast, the most frequent and potentially aggressive type of mammary cancer, with the objective to increase the knowledge of breast cancer molecular markers potentially useful for clinical applications. The proteomic screening; by 2D-IPG and mass spectrometry; allowed us to identify two main classes of protein clusters: proteins expressed ubiquitously at high levels in all patients; and proteins expressed sporadically among the same patients. Wit…

0301 basic medicineGene isoformClinical Biochemistrygel-based proteomiclcsh:QR1-502Motilitysurgical tissuegel-based proteomicsBiologyBioinformaticsProteomicsBiochemistrylcsh:MicrobiologyArticleMetastasis03 medical and health sciencesBreast cancerbreast cancerStructural BiologyMedicineSettore BIO/06 - Anatomia Comparata E CitologiaMolecular Biologyoncology_oncogenicsmass spectrometrysurgical tissuesbusiness.industryCancermedicine.diseasePrimary tumor030104 developmental biologyApoptosisprotein clusteringCancer researchbreast cancer; surgical tissues; gel-based proteomics; mass spectrometry; protein clusteringbusinessProteomes
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Serum metabolomic profiling facilitates the non-invasive identification of metabolic biomarkers associated with the onset and progression of non-smal…

2016

Lung cancer (LC) is responsible for most cancer deaths. One of the main factors contributing to the lethality of this disease is the fact that a large proportion of patients are diagnosed at advanced stages when a clinical intervention is unlikely to succeed. In this study, we evaluated the potential of metabolomics by H-1-NMR to facilitate the identification of accurate and reliable biomarkers to support the early diagnosis and prognosis of non-small cell lung cancer (NSCLC). We found that the metabolic profile of NSCLC patients, compared with healthy individuals, is characterized by statistically significant changes in the concentration of 18 metabolites representing different amino acids…

0301 basic medicineGerontologyOncologyAdultMalemedicine.medical_specialtyLung NeoplasmsProton Magnetic Resonance SpectroscopyDiseaseNSCLC03 medical and health sciences0302 clinical medicineMetabolomicsInternal medicineCarcinoma Non-Small-Cell LungmedicineBiomarkers TumorHumansLung cancerAgedbusiness.industryNon invasivebiomarkersLipid metabolismMiddle Agedmedicine.diseasemetabolomicsPathophysiology030104 developmental biologyMetabolomic profilingOncology030220 oncology & carcinogenesisDisease ProgressionFemaleNon small cellprognosisbusinessResearch Paperearly diagnosis
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