0000000000164569

AUTHOR

Emanuela Turillazzi

showing 4 related works from this author

Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.

2008

The sudden, unexpected, and unexplained death of both members of a set of healthy twins (simultaneous sudden infant death syndrome (SSIDS)) is defined as a case in which both infants meet the definition of sudden infant death syndrome individually. A search of the world medical literature resulted in only 42 reported cases of SSIDS. We report the case of a pair of identical, male, monozygotic twins, 138 days old, who suddenly died, meeting the full criteria of SSIDS and where a genetic screen was performed, resulting in a heterozygous nonsense SCN5A mutation (W822X) in both twins. Immunohistochemistry was performed on cardiac tissue samples utilizing polyclonal antibodies anti-Na+ CP type V…

MalePathologymedicine.medical_specialtyNav1.5 protein functionv1.5 protein functionmedia_common.quotation_subject2734Nonsense mutationNonsenseNa+ channel functionMuscle ProteinsSocio-culturaleBiology+Nav1.5 protein function; Na+ channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutation; Codon Nonsense; Diseases in Twins; Humans; Infant; Male; Muscle Proteins; NAV1.5 Voltage-Gated Sodium Channel; Sodium Channels; Sudden Infant Death; 2734Sudden deathSodium ChannelsNAV1.5 Voltage-Gated Sodium ChannelPathology and Forensic MedicinePathogenesisSCN5A gene mutationDiseases in TwinsmedicineHumansSimultaneous sudden infant death syndromeSCN5A gene mutationW822X mutationNa+ channel functionNav1.5 protein functionNaSimultaneous sudden infant death syndrome SCN5A gene mutation W822X mutation Na+ channel function Nav1.5 protein function CodonMolecular BiologyCellular localizationmedia_commonSimultaneous sudden infant death syndromeSettore BIO/16 - Anatomia UmanaSimultaneous sudden infant death syndrome SCN5A gene mutation W822X mutation Na+ channel function Nav1.5 protein functionW822X mutationInfantCell BiologyGeneral MedicineSudden infant death syndromeNonsenseTerminal deoxynucleotidyl transferaseCodon NonsenseImmunohistochemistryNa; v; 1.5 protein function; Na; +; channel function; SCN5A gene mutation; Simultaneous sudden infant death syndrome; W822X mutationchannel functionSudden Infant Death
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Effects of Nandrolone Stimulation on Testosterone Biosynthesis in Leydig Cells

2016

Anabolic androgenic steroids (AAS) are among the drugs most used by athletes for improving physical performance, as well as for aesthetic purposes. A number of papers have showed the side effects of AAS in different organs and tissues. For example, AAS are known to suppress gonadotropin‐releasing hormone, luteinizing hormone, and follicle‐stimulating hormone. This study investigates the effects of nandrolone on testosterone biosynthesis in Leydig cells using various methods, including mass spectrometry, western blotting, confocal microscopy and quantitative real‐time PCR. The results obtained show that testosterone levels increase at a 3.9 μM concentration of nandrolone and return to the ba…

0301 basic medicineEnzymologicMalePhysiologyClinical BiochemistryAndrogenAnabolic Agents; Androgens; Animals; Cell Line; Cell Survival; Dose-Response Relationship Drug; Gene Expression Regulation Enzymologic; Leydig Cells; Male; Nandrolone; Phosphoproteins; Rats; Steroid 17-alpha-Hydroxylase; Testosterone; Physiology; Clinical Biochemistry; Cell BiologyAnabolic AgentsOriginal Research ArticlesNandroloneTestosteroneOriginal Research ArticleTestosteroneAnabolic Agents; Androgens; Animals; Cell Line; Cell Survival; Dose-Response Relationship Drug; Gene Expression Regulation Enzymologic; Leydig Cells; Male; Nandrolone; Phosphoproteins; Rats; Steroid 17-alpha-Hydroxylase; Testosterone; Clinical Biochemistry; Cell Biology; Physiology; Medicine (all)Steroidogenic acute regulatory proteinMedicine (all)Leydig CellsSteroid 17-alpha-HydroxylaseCYP17A1PhosphoproteinAndrogensDrugLuteinizing hormonemedicine.drugAnabolic Agents; Androgens; Animals; Cell Line; Cell Survival; Dose-Response Relationship Drug; Gene Expression Regulation Enzymologic; Leydig Cells; Male; Nandrolone; Phosphoproteins; Rats; Steroid 17-alpha-Hydroxylase; TestosteroneLeydig Cellendocrine systemmedicine.medical_specialtyCell SurvivalBiologyGene Expression Regulation EnzymologicCell LineDose-Response Relationship03 medical and health sciencesDownregulation and upregulationIn vivoInternal medicinemedicineAnimalsDose-Response Relationship DrugAnimalCell BiologyPhosphoproteinsRats030104 developmental biologyEndocrinologyGene Expression RegulationNandroloneAnabolic AgentRatHormone
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Nandrolone decanoate interferes with testosterone biosynthesis altering blood-testis barrier components

2017

Abstract The aim of this study was to investigate whether nandrolone decanoate (ND) use affects testosterone production and testicular morphology in a model of trained and sedentary mice. A group of mice underwent endurance training while another set led a sedentary lifestyle and were freely mobile within cages. All experimental groups were treated with either ND or peanut oil at different doses for 6 weeks. Testosterone serum levels were measured via liquid chromatography–mass spectrometry. Western blot analysis and quantitative real‐time PCR were utilized to determine gene and protein expression levels of the primary enzymes implicated in testosterone biosynthesis and gene expression leve…

Male0301 basic medicinemedicine.medical_specialtyNandrolone decanoateStimulationEndogenyMUC1BiologyMale infertilityMice03 medical and health sciencesAnabolic AgentsWestern blotPhysical Conditioning AnimalInternal medicineTestisGene expressionmedicineAnimalsNandroloneBlood-testis barrier; MMP-2; MMP-9; MUC1; Nandrolone decanoate; Testosterone; TJP1; Molecular Medicine; Cell Biologyblood–testis barrierInducerTestosteroneTJP1TestosteroneBlood-testis barrierBlood–testis barrierMMP‐9medicine.diagnostic_testMMP-2Mucin-1Tissue Inhibitor of MetalloproteinasesOriginal ArticlesCell Biologymedicine.diseaseProtein Transport030104 developmental biologyEndocrinologyGene Expression RegulationMatrix Metalloproteinase 9Zonula Occludens-1 ProteinMatrix Metalloproteinase 2Molecular MedicineOriginal ArticleMMP‐2Sedentary BehaviorMMP-9Signal Transduction
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Immunohistochemical marker for Na+ CP type Vα (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphyl…

2009

A sudden death likely due to mild anaphylactic reaction in a young man is described. Autoptic, histologic, immunohistochemical, and laboratory findings were strongly consistent with the diagnosis of a mild anaphylactic reaction. Genetic molecular analysis, performed on formalin-fixed, paraffin-embedded tissues, showed a mutation described as W822X in a family with electrocardiographic pattern typical of Brugada Syndrome. It results in a nonsense mutation generating a truncated form of the channel protein. The mutation is due to a point substitution of a guanine with an adenine residue (G2466A). Immunohistochemistry and laser scanning confocal microscopy on sections from heart formalin-fixed…

MaleChannellopathies; Confocal laser scanning microscopy; Immunohistochemistry; Na+ CP type Vα (C-20); Sodium channel; Sudden cardiac death; W822X; Adult; Anaphylaxis; Brugada Syndrome; Fatal Outcome; Humans; Male; Muscle Proteins; Myocardium; Myocytes Cardiac; NAV1.5 Voltage-Gated Sodium Channel; Peanut Hypersensitivity; Sodium Channels; Death Sudden Cardiac; Mutation Missense; 2734; Medical Laboratory Technology; HistologyMuscle Proteinsmedicine.disease_causeSodium ChannelsSudden cardiac deathNAV1.5 Voltage-Gated Sodium ChannelNa+ CP type V[alpha] (C-20)Fatal OutcomeMissense mutationMyocytes CardiacConfocal laser scanning microscopyCP type Vα (C-20)Cellular localizationBrugada syndromeBrugada SyndromeMutationChemistrySodium channelChannellopathiesImmunohistochemistryChannellopathies; Confocal laser scanning microscopy; Immunohistochemistry; Na; +; CP type Vα (C-20); Sodium channel; Sudden cardiac death; W822XDeathMedical Laboratory TechnologyCardiologyCardiacAdultmedicine.medical_specialtyHistologyNa+ CP type V[alpha] (C-20) confocal laser scanning microscopy immunohistochemistry sodium channel channellopathies W822X sudden cardiac deathNonsense mutation2734Mutation MissenseSocio-culturaleNa+ CP type Vα (C-20)+Sudden deathPathology and Forensic MedicineInternal medicinemedicineHumansPeanut HypersensitivityNacardiovascular diseasesW822XAnaphylaxisMyocytesSodium channelMyocardiummedicine.diseaseMolecular biologySuddenSudden cardiac deathDeath Sudden CardiacMutationMissenseNa+ CP type V[alpha] (C-20); confocal laser scanning microscopy; immunohistochemistry; sodium channel; channellopathies; W822X; sudden cardiac death
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