Search results for " Gene Dosage"

showing 6 items of 6 documents

Analysis of extended genomic rearrangements in oncological research.

2007

Screening for genomic rearrangements is a fundamental task in the genetic diagnosis of many inherited disorders including cancer-predisposing syndromes. Several methods were developed for analysis of structural genomic abnormalities, some are targeted to the analysis of one or few specific loci, others are designed to scan the whole genome. Locus-specific methods are used when the candidate loci responsible for the specific pathological condition are known. Whole-genome methods are used to discover loci bearing structural abnormalities when the disease-associated locus is unknown. Three main approaches have been employed for the analysis of locus-specific structural changes. The first two a…

GeneticsChromosome AberrationsGene RearrangementRecombination GeneticHybridization probecopy number gene dosage locus-specific molecular diagnosis mutation detection structural variationsGenomicsHematologyGene rearrangementGenomicsBiologyMolecular Inversion ProbeMedical OncologyOncologyNeoplasmsMultiplex polymerase chain reactionHumansMultiplexGenotypingSNP arrayAnnals of oncology : official journal of the European Society for Medical Oncology
researchProduct

Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

2012

Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = …

MaleOncologyendocrine system diseasesMicroarrayGene DosagePreschool Cohort Studies Computational Biology Diagnostic and Statistical Manual of Mental Disorders EpilepsyBioinformaticsPolymerase Chain ReactionFluorescence Intellectual DisabilityCohort StudiesEpilepsySettore MED/38 - Pediatria Generale E SpecialisticaGene DuplicationProspective StudiesCopy-number variationAge of OnsetChildProspective cohort studyIn Situ Hybridization Fluorescenceepidemiology/genetics Nucleic Acid Hybridization Polymerase Chain Reaction Prospective Studies Young AdultGene RearrangementNucleic Acid HybridizationMiddle AgedControl subjectsMagnetic Resonance ImagingDiagnostic and Statistical Manual of Mental Disordersgenetics Female Gene Deletion Gene Dosage Gene Duplication Gene Rearrangement Genome-Wide Association Study Humans In Situ HybridizationItalyRare Copy Number Variations EpilepsyChild PreschoolFemaleepidemiology/genetics ItalyAdultmedicine.medical_specialtyAdolescentBiologyYoung AdultAdolescent Adult Age of Onset Aged Child ChildArts and Humanities (miscellaneous)Intellectual DisabilityInternal medicinemental disordersmedicineHumansIn patientClinical significanceepidemiology Magnetic Resonance Imaging Male Microarray Analysis Middle Aged Nervous System DiseaseAgedEpilepsyComputational BiologyMicroarray Analysismedicine.diseaseSettore MED/03 - Genetica MedicaNeurology (clinical)Nervous System DiseasesGene DeletionGenome-Wide Association StudyComparative genomic hybridization
researchProduct

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes

2009

Down’s syndrome (DS) is one of the most common numer- ical chromosomal aberrations, usually caused by trisomy of chromosome 21, and is frequently complicated with congen- ital heart defects, duodenal obs truction and other conditions including undescended testis (UDT) (Fonkalsrud 1970). The incidence of undescended testes in DS was reported to be 6.52% (Chew and Hutson 2004) while the incidence of UDT in the first year is approximately 0.2%–0.8% in the nor- mal population (Benson et al . 1991; Ichiyanagi et al . 1998). Rapley et al . (2000) provided evidence for a testicular germ- cell tumours (TGCT) predisposition locus at Xq27; the au- thors obtained an hlod score of 4.7 from families wit…

Malemedicine.medical_specialtyAdolescentPopulationGene DosageBiologyGene dosageYoung AdultSettore MED/38 - Pediatria Generale E SpecialisticaInternal medicineCryptorchidismGeneticsmedicineHumansChildeducationGynecologyeducation.field_of_studyS syndromeIncidence (epidemiology)Genetic VariationNuclear Proteinsmedicine.diseaseNeoplasm ProteinsSPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.EndocrinologyChild PreschoolDown SyndromeTrisomyJournal of Genetics
researchProduct

Dlk1 dosage regulates hippocampal neurogenesis and cognition

2021

Significance Generation of new neurons occurs normally in the adult brain in two locations: the subventricular zone (SVZ) in the walls of the lateral ventricles and the subgranular zone (SGZ) in the dentate gyrus (DG) of the hippocampus. Neurogenesis in the adult hippocampus has been implicated in cognitive functions such as learning, memory, and recovery of stress response. Imprinted genes are highly prevalent in the brain and have adult and developmental important functions. Genetic deletion of the imprinted gene Dlk1 from either parental allele shows that DLK1 is a key mediator of quiescence in adult hippocampal NSCs. Additionally, Dlk1 is exquisitely dosage sensitive in the brain with p…

0301 basic medicinehippocampusHippocampusgene dosageBiologySubgranular zone03 medical and health sciencesMice0302 clinical medicineCognitionNeuroplasticitymedicineAnimalsEpigeneticsImprinting (psychology)AllelesMultidisciplinarybehaviorDentate gyrusNeurogenesisCalcium-Binding Proteinsneurogenesis genomic imprinting behavior gene dosage hippocampus424Biological Sciencesgenomic imprintingneurogenesis030104 developmental biologymedicine.anatomical_structurenervous systemGenomic imprintingNeuroscience030217 neurology & neurosurgeryNeuroscience
researchProduct

Double copies of blaKPC-3::Tn4401a on an IncX3 plasmid in Klebsiella pneumoniae successful clone ST512 from Italy

2015

ABSTRACT A carbapenem-resistant sequence type 512 (ST512) Klebsiella pneumoniae carbapenemase 3 (KPC-3)-producing K. pneumoniae strain showing a novel variant plasmid content was isolated in Palermo, Italy, in 2014. ST512 is a worldwide successful clone associated with the spread of bla KPC genes located on the IncFIIk pKpQIL plasmid. In our ST512 strain, the bla KPC-3 gene was unusually located on an IncX3 plasmid, whose complete sequence was determined. Two copies of bla KPC-3 ::Tn 4401a caused by intramolecular transposition events were detected in the plasmid.

transposonsequence analysispolymerase chain reactionDrug ResistanceGene DosageSettore MED/42 - Igiene Generale E Applicatabacterial proteinbeta-Lactamaseopen reading framecarbapenemasePlasmidminocyclineplasmid DNAmeropenemPharmacology (medical)geneticscolistincefpodoximeceftazidime610 Medicine & healthCarbapenemBacterialpolymyxin Btimentingene expression regulationbacteriumKlebsiella pneumoniae carbapenemase 3 producing Klebsiella pneumoniae3. Good healthantiinfective agentmicrobial sensitivity testKlebsiella pneumoniaeItalypriority journaltigecyclineMultipleclone (Java method)cefotaxime030106 microbiologyKlebsiella pneumoniae carbapenemase 3tobramycinMicrobial Sensitivity Testsgentamicinpiperacillin plus tazobactamchemistryGene dosageArticleMicrobiology03 medical and health sciencesComplete sequenceClone CellOpen Reading FramesertapenemBacterial Proteinsmultidrug resistanceextensively drug resistant bacteriumAnti-Bacterial AgentcefepimePharmacologylevofloxacinmicrobiologycefoxitinbiochemical phenomena metabolism and nutritionbacterial infections and mycosesVirologyAnti-Bacterial Agents; Bacterial Proteins; Carbapenems; Clone Cells; Drug Resistance Multiple Bacterial; Gene Dosage; Italy; Klebsiella Infections; Klebsiella pneumoniae; Microbial Sensitivity Tests; Open Reading Frames; Plasmids; beta-Lactamases; DNA Transposable Elements; Gene Expression Regulation Bacterial; Pharmacology (medical); Pharmacology; Infectious Diseasesantibiotic sensitivityClone CellsKlebsiella InfectionsceftriaxoneCarbapenemsbacterial genetics0301 basic medicinemolecular cloningSettore MED/07 - Microbiologia E Microbiologia ClinicaKlebsiella pneumoniaeTransposition (music)Drug Resistance Multiple Bacterialpolycyclic compoundsgenetic screeningcell clonecarbapenem derivativeKlebsiella infectionunclassified drugAnti-Bacterial AgentsInfectious Diseasesbacterial genePlasmidsenzymologydoripenemBiologyminimum inhibitory concentrationbeta-Lactamasesbeta lactamaseMechanisms of ResistanceciprofloxacinAmikacin; aztreonam; carbapenemase; cefepime; cefotaxime; cefoxitin; cefpodoxime; ceftazidime; ceftriaxone; ciprofloxacin; colistin; cotrimoxazole; doripenem; doxycycline; ertapenem; gentamicin; imipenem; Klebsiella pneumoniae carbapenemase 3; levofloxacin; meropenem; minocycline; piperacillin plus tazobactam; plasmid DNA; polymyxin B; tigecycline; timentin; tobramycin; unclassified drug; antiinfective agent; bacterial protein; beta lactamase; carbapenem derivative; transposon antibiotic sensitivity; Article; bacterial gene; bacterial genetics; bacterial strain; bacterium; bacterium detection; bacterium isolation; Escherichia coli; extensively drug resistant bacterium; gene dosage; genetic screening; Italy; Klebsiella pneumoniae; Klebsiella pneumoniae carbapenemase 3 producing Klebsiella pneumoniae; minimum inhibitory concentration; molecular cloning; nonhuman; polymerase chain reaction; priority journal; sequence analysis; cell clone; chemistry; drug effects; enzymology; gene expression regulation; genetics; isolation and purification; Klebsiella infection; Klebsiella pneumoniae; metabolism; microbial sensitivity test; microbiology; multidrug resistance; open reading frame; plasmid; transposon Anti-Bacterial Agents; Bacterial Proteins; beta-Lactamases; Carbapenems; Clone Cells; DNA Transposable Elements; Drug Resistance Multiple Bacterial; Gene Dosage; Gene Expression Regulation Bacterial; Italy; Klebsiella Infections; Klebsiella pneumoniae; Microbial Sensitivity Tests; Open Reading Frames; Plasmidsplasmidbacterium isolationEscherichia coliGeneAmikacinbacterium detectionnonhumandoxycyclineisolation and purificationGene Expression Regulation Bacterialbiology.organism_classificationbacterial straincotrimoxazoleOpen reading frameDNA Transposable Elementdrug effectsDNA Transposable Elementsmetabolismaztreonamimipenem
researchProduct

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

2009

A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct sequencing. In recent years, it has been shown that a significant proportion of undetermined alleles consist of large deletions overlapping one or more exons. These deletions have been difficult to detect in compound heterozygotes using gene-scanning methods due to a masking effect of the non-deleted al…

Phenylalanine hydroxylasePhenylketonuriasDNA Mutational AnalysisClinical Biochemistrygene dosageCompound heterozygosityBiochemistryGene dosageDenaturing high performance liquid chromatographyExonHyperphenylalaninemiaGene FrequencyPhenylketonuriasmedicineHumansMultiplex ligation-dependent probe amplificationMolecular BiologySequence DeletionGeneticsphenylalanine hydroxylase; phenylketonurias; ligase chain reaction; gene deletion; gene dosagebiologygene deletionReverse Transcriptase Polymerase Chain ReactionPhenylalanine HydroxylaseExonsmedicine.diseaseMolecular biologyItalyDisease Progressionbiology.proteinligase chain reactionMolecular MedicineOriginal ArticleExperimental and Molecular Medicine
researchProduct