Search results for "phylogeny"

showing 10 items of 1398 documents

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

2017

By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein arm motors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunit axonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2–DNAAF4–HSP90 complex akin to the HSP90 co-chaperone R2TP complex. Here, we demonstrate that large genomic deletions as well as point mutations involving PIH1D3 are responsible for an X-li…

MaleCytoplasmProtein FoldingAxoneme[SDV]Life Sciences [q-bio][SDV.GEN] Life Sciences [q-bio]/Genetics[SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tractouterGenes X-LinkedChilddefectsPhylogenyZebrafisharmsSequence DeletionvariantsIntracellular Signaling Peptides and ProteinsGenetic Diseases X-LinkedPedigreeMultidisciplinary Sciences[SDV] Life Sciences [q-bio]motilityChild PreschoolMicrotubule ProteinsSperm MotilityScience & Technology - Other TopicsFemaleAdultAdolescentinnerUK10K Rare Groupr2tp complexof-function mutationsArticleMicroscopy Electron TransmissionMD MultidisciplinaryExome SequencingAnimalsHumansPoint MutationCiliaHSP90 Heat-Shock Proteins[SDV.GEN]Life Sciences [q-bio]/GeneticsScience & TechnologyKartagener SyndromeInfant NewbornAxonemal DyneinsDisease Models AnimalHEK293 Cells[SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tractidentifies mutationsproteinApoptosis Regulatory ProteinsSequence AlignmentMolecular ChaperonesNature Communications
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A novel serine/threonine kinase gene, STK33 , on human chromosome 11p15.3

2001

Human chromosomal region 11p15 is known to be associated with several diseases including predispositions to develop various tumor types. In search of candidate genes, a novel human kinase gene is described, STK33, which codes for a serine/threonine protein kinase. The gene was discovered by comparative genome analysis of human chromosome 11p15.3 and its orthologous region on distal mouse chromosome 7. Human STK33 gene contains 12 exons as has been determined by the comparison to the full-length transcript amplified from human uterus RNA. Transcripts are found in a variety of tissues in at least two alternatively spliced forms as revealed by reverse transcriptase-polymerase chain reaction, c…

MaleDNA ComplementaryMolecular Sequence DataGene ExpressionProtein Serine-Threonine KinasesMAP3K7MAP2K7MiceTANK-binding kinase 1GeneticsAnimalsHumansTissue DistributionAmino Acid SequenceRNA Messengerc-RafPhylogenyGeneticsSerine/threonine-specific protein kinaseBase SequenceSequence Homology Amino AcidbiologyChromosomes Human Pair 11Cyclin-dependent kinase 2DNAExonsSequence Analysis DNAGeneral MedicineMolecular biologyIntronsGenesChromosomal regionbiology.proteinFemalePRKCB1Sequence AlignmentGene
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Molecular characterisation and evolution of the hemocyanin from the European spiny lobster, Palinurus elephas.

2003

The hemocyanin of the European spiny lobster Palinurus elephas (synonym: Palinurus vulgaris) is a hexamer composed by four closely related but distinct subunits. We have obtained the full cDNA sequences of all four subunits, which cover 2275-2298 bp and encode for native polypeptides of 656 and 657 amino acids. The P. elephas hemocyanin subunits belong to the alpha-type of crustacean hemocyanins, whereas beta- and gamma-subunits are absent in this species. An unusual high ratio of non-synonymous versus synonymous nucleotide substitutions was observed, suggesting positive selection among subunits. Assuming a constant evolution rate, the P. elephas hemocyanin subunits emerged from a single he…

MaleDNA ComplementaryPanulirusPhysiologymedicine.medical_treatmentPalinurus elephasMolecular Sequence Datachemical and pharmacologic phenomenaBiochemistryEvolution MolecularPaleontologyEndocrinologyElephasPhylogeneticsmedicineAnimalsProtein IsoformsAmino Acid SequencePalinuridaeEcology Evolution Behavior and SystematicsPhylogenybiologySequence Homology Amino AcidHemocyaninBayes Theorembiology.organism_classificationCrustaceanPalinurusEvolutionary biologyHemocyaninsAnimal Science and ZoologySpiny lobsterJournal of comparative physiology. B, Biochemical, systemic, and environmental physiology
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Isolation and characterization of cold-shock domain protein genes, Oryzias latipes Y-box protein 2 ( OlaYP2 ) and Fugu rubripes Y-box protein 1 ( Fru…

2002

The Y-box protein (YP) family shares a nucleic acid binding domain, called cold-shock domain, that has been evolutionarily highly conserved from bacteria to human. The different YPs identified so far in vertebrates are thought to function as transcriptional activators, transcriptional repressors and/or translational repressors. Medakafish and pufferfish are very suitable vertebrate models for the study of developmental genetics and comparative genomics, respectively. Here we report the isolation of two teleost YP genes, medakafish Oryzias latipes (Ola)YP2 and Fugu rubripes (Fru)YP1, which are expressed in multiple tissues. Phylogenetic analysis demonstrated that OlaYP2 and FruYP1 belong to …

MaleDNA ComplementarySequence analysisOryziasMolecular Sequence DataProtein domainOryziasGene ExpressionBiologyGeneticsAnimalsAmino Acid SequenceIn Situ Hybridization FluorescencePhylogenyComparative genomicsGeneticsBase SequenceSequence Homology Amino AcidFugufungiChromosome MappingSequence Analysis DNAGeneral MedicineY box binding protein 1Cold-shock domainbiology.organism_classificationTakifuguFemaleSequence AlignmentTranscription FactorsBinding domainGene
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Serologic and molecular characterization of weak D type 29

2017

MaleDNA ComplementaryTunisiaImmunologyBlood Donors030204 cardiovascular system & hematologyBiologyPolymorphism Single NucleotideWhite PeopleArticleSerology03 medical and health scienceschemistry.chemical_compound0302 clinical medicinePhylogeneticsGermanyHumansImmunology and AllergyAlleleAllelesPhylogenyGeneticsRh-Hr Blood-Group SystemExonsHematologyBlood Grouping and CrossmatchingHaplotypeschemistryChromosomes Human Pair 1FemaleDNA030215 immunologyTransfusion
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Morphological and molecular characterization of tetraphyllidean merocercoids (Platyhelminthes: Cestoda) of striped dolphins (Stenella coeruleoalba) f…

2005

Two types of tetraphyllidean merocercoids, Phyllobothrium delphini and Monorygma grimaldii, are well known from most cetaceans world-wide. The role of cetaceans in the life-cycle of these merocercoids is unclear because their specific identity is as yet unknown. The problem is compounded by poor descriptions of both merocercoids. We used light and scanning electron microscopy, and histological techniques to provide a thorough description of merocercoids collected from 11 striped dolphins, Stenella coeruleoalba, from the Spanish Mediterranean. We also described, for the first time, specimens of P. delphini with immature proglottides. Our merocercoids were morphologically similar to those des…

MaleDolphinsCestodaCetaceaZoologyHelminth geneticsStenella coeruleoalbaPolymerase Chain ReactionPhylogeneticsbiology.animalMediterranean SeaParasite hostingAnimalsCladePhylogenybiologyBase SequenceAbdominal CavityDNA Helminthbiology.organism_classificationTetraphyllideaInfectious DiseasesRNA RibosomalSpainMicroscopy Electron ScanningCestodaAnimal Science and ZoologyParasitologyFemaleParasitology
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Identification of enteroviral infection among infants and children admitted to hospital with acute gastroentritis in Ho Chi Minh City, Vietnam

2005

A total of 276 fecal specimens collected from infants and children admitted to hospital with acute gastroenteritis in Ho Chi Minh City, Vietnam from October 2002 to September 2003, were tested for the presence of enteroviruses by RT-PCR and virus isolation. Enteroviruses were detected in 27 patients by RT-PCR corresponding to 9.8%. However, only four enterovirus strains could be isolated by cell culture with two different cell lines CaCo2 and Vero, showing specific cytopathic effect (CPE). The results clearly indicate that RT-PCR is a sensitive, specific assay to investigate the true burden of acute gastroenteritis due to enteroviruses in clinical fecal specimens. In the present study, ente…

MaleEchovirusvirusesmedicine.disease_causeGenetic analysisVirusFecesVirologyEnterovirus InfectionsPrevalenceHumansMedicinePhylogenyFecesEnterovirusCytopathic effectbusiness.industryAge FactorsInfantvirus diseasesVirologyHo chi minhGastroenteritisMolecular analysisInfectious DiseasesVietnamChild PreschoolEnterovirusFemaleSeasonsbusinessJournal of Medical Virology
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Weak phylogenetic effects on ecological niches of Sylvia warblers

2003

To understand the evolution of ecological niches it is important to know whether niche evolution is constrained by phylogeny. We approached this question for Sylvia warblers by testing if closely related species are more similar in 20 ecologically relevant morphological traits than distantly related species. Phylogenetic relatedness was quantified using a molecular phylogeny based on the mitochondrial cytochrome b gene. By Principal Component Analysis (PCA) two major niche axes were extracted. We tested the individual ecomorphological traits and the positions of the species on the PCA axes for phylogenetic effects using Mantel tests. The results demonstrated small but significant phylogenet…

MaleEcological nicheEcologyPhylogenetic treeFootCytochrome bEcomorphologyNicheZoologyBiologyAdaptation PhysiologicalSongbirdsPhylogeneticsMolecular phylogeneticsAnimalsFemaleAdaptationLocomotionPhylogenyEcology Evolution Behavior and SystematicsJournal of Evolutionary Biology
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Molecular markers for germ cell differentiation in the demosponge Suberites domuncula

2004

Sponges (phylum Porifera) are simple metazoans for which no molecular information on gametogenesis and larval development is available. To support the current study, it was confirmed by histology that oocytes and larvae were produced by the demosponge Suberites domuncula. Three genes/expressed products from S. domuncula whose expression correlated with sexual reproduction were identified and characterized (they are used here as marker genes): i) a receptor tyrosine kinase (RTK) with sequence similarity in the tyrosine kinase domain to fibroblast growth factor receptors; ii) the sex-determining protein FEM1 and iii) the sperm associated antigen (SAA) of triploblasts. Antibodies against the e…

MaleEmbryologyMolecular Sequence DataReceptor tyrosine kinaseDemospongemedicineAnimalsAmino Acid SequenceAntigensPhylogenyGametogenesisCaenorhabditis elegansGeneticsBase SequenceSequence Homology Amino AcidbiologyfungiGene Expression Regulation DevelopmentalReceptor Protein-Tyrosine KinasesCell DifferentiationDNASex Determination Processesbiology.organism_classificationSpermatozoaCell biologySuberites domunculamedicine.anatomical_structureFibroblast growth factor receptorOocytesbiology.proteinFemaleSeasonsSuberitesTyrosine kinaseBiomarkersGerm cellDevelopmental Biology
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Limited cross-border infections in patients newly diagnosed with HIV in Europe

2013

Background: International travel plays a role in the spread of HIV-1 across Europe. It is, however, not known whether international travel is more important for spread of the epidemic as compared to endogenous infections within single countries. In this study, phylogenetic associations among HIV of newly diagnosed patients were determined across Europe.Results: Data came from the SPREAD programme which collects samples of newly diagnosed patients that are representative for national HIV epidemics. 4260 pol sequences from 25 European countries and Israel collected in 2002-2007 were included.We identified 457 clusters including 1330 persons (31.2% of all patients). The cluster size ranged bet…

MaleEpidemiologyHuman immunodeficiency virus (HIV)Human immunodeficiency virus 1HIV Infectionsmedicine.disease_causeVirologie généralephylogenySettore MED/42 - Igiene Generale E ApplicataMen who have sex with menEMERGENCE0302 clinical medicineMedicine and Health SciencesMedicineInfection controlCluster Analysis030212 general & internal medicineIsraelPathologie maladies infectieusestravelPhylogeny0303 health sciencesMolecular EpidemiologyTravelTransmission (medicine)articlevirus transmissionIMMUNODEFICIENCY-VIRUS TYPE-13. Good healthPeer reviewEuropefemaleInfectious DiseasesSUBTYPE BDRUG-RESISTANT HIV-1RNA Viralmale homosexualAdultstructural geneMolecular Sequence DataNewly diagnosedClusters03 medical and health sciencesmaleSDG 3 - Good Health and Well-beingMOLECULAR EPIDEMIOLOGYSWITZERLANDVirologygeographic distributionHumansTransmissionIn patienthuman030304 developmental biologynonhumanMolecular epidemiologybusiness.industryResearchhigh risk populationVirologie médicalenucleotide sequenceSequence Analysis DNAHuman immunodeficiency virus 1 infectionVirologymajor clinical studyunindexed sequence3121 General medicine internal medicine and other clinical medicineHIV-1businessEurope HIV-1 Transmission ClustersDemographycluster analysis
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