Search results for "Protein"

showing 10 items of 21431 documents

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

2000

Made available in DSpace on 2016-10-10T03:52:18Z (GMT). No. of bitstreams: 5 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.pdf: 167085 bytes, checksum: b445ec059ea2d0f06bd4fa913354872a (MD5) license_url: 52 bytes, checksum: 2f32edb9c19a57e928372a33fd08dba5 (MD5) license_text: 24259 bytes, checksum: f1f24f769b03eb8f9cd3f53c1090841c (MD5) license_rdf: 24658 bytes, checksum: 9d3847733d3c0b59c7c89a1d40d3d240 (MD5) license.txt: 1887 bytes, checksum: 445d1980f282ec865917de35a4c622f6 (MD5) Previous issue date: 2000 Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dy…

medicine.medical_specialtyDysferlinopathyDNA Mutational AnalysisMuscle ProteinsMuscular DystrophiesWestern blottingDysferlinMuscular DiseasesLamininInternal medicinemedicineMissense mutationCalpain 3HumansMuscular dystrophyDysferlinGenetics (clinical)Geneticsbiologybusiness.industryCalpainMembrane ProteinsCalpainmedicine.diseaseMuscular dystrophyLaminin alpha 2EndocrinologyMuscle proteinsNeurologyPediatrics Perinatology and Child Healthbiology.proteinNeurology (clinical)LamininbusinessMerosinLimb-girdle muscular dystrophyNeuromuscular disorders : NMD
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Aromatase and amphiregulin are correspondingly expressed in human liver cancer cells

2009

Human hepatocellular carcinoma (HCC) is associated with high mortality rates, being the third most common cause of cancer death worldwide. Although estrogens have been implicated in HCC, their potential role in development and/or progression of this malignancy remains unclear. In this study we investigated mRNA and protein expression of aromatase (Aro) and amphiregulin (AREG) in relation to estrogen receptors (ERs), in HepG2, Huh7, and HA22T human malignant liver cell lines, using RT-PCR and Western blot analyses. Aro expression was significantly higher (approximately 13-fold, P= 0.003) in HepG2 cells than in Huh7 cells, while no Aro expression could be detected in HA22T cells. Interestingl…

medicine.medical_specialtyEGF Family of ProteinsBlotting WesternEstrogen receptorAmphiregulinGeneral Biochemistry Genetics and Molecular BiologyAromataseHistory and Philosophy of ScienceAmphiregulinWestern blotInternal medicineCell Line TumormedicineHumansEstrogen receptors hepatocellular carcinoma amphiregulinAromataseDNA PrimersGlycoproteinsbiologymedicine.diagnostic_testBase SequenceReverse Transcriptase Polymerase Chain ReactionGeneral NeuroscienceLiver cellLiver NeoplasmsEstrogen Receptor alphamedicine.diseasedigestive system diseasesBlotEndocrinologyCell cultureHepatocellular carcinomabiology.proteinCancer researchIntercellular Signaling Peptides and Proteins
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Cyclic AMP-dependent and independent stimulations of ovarian steroidogenesis by brain factors in the blowfly, Phormia regina.

2000

0303-7207 doi: DOI: 10.1016/S0303-7207(00)00312-9; The involvement of cyclic-AMP (cAMP) as a potential second messenger in the neurohormonal control of ovarian steroidogenesis was investigated in the adult female blowfly Phormia regina. Individual measurements of ovarian cAMP concentrations and of ovarian biosynthesis of ecdysteroids, stimulated after a protein meal, demonstrated that steroidogenesis is preceded by a peak of cAMP in the ovaries. In vitro, ovarian steroidogenesis was stimulated by cell-permeable analogues of cAMP and by forskolin. Crude brain extracts were also able to elicit a rise of cAMP in the ovaries in vitro and the secretion of ecdysteroids into the medium: such extra…

medicine.medical_specialtyEcdysonePhosphodiesterase InhibitorsOˆgenesisStimulationBiochemistryOogenesis03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologyInternal medicine1-Methyl-3-isobutylxanthinemedicineCyclic AMPAnimalsEnzyme InhibitorsMolecular Biology030304 developmental biologyBrain Chemistry0303 health sciencesEcdysteroidForskolinbiologyDipteraColforsinOvaryAge FactorsEcdysteroidsPhormia reginaThionucleotidesbiology.organism_classificationEndocrinologychemistryInsect HormonesSecond messenger systemCell signaling (fly ovary)FemaleSteroidsDietary Proteins030217 neurology & neurosurgeryEcdysteroid secretionEcdysoneAdenylyl CyclasesSignal TransductionMolecular and cellular endocrinology
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The ecdysone-induced DHR4 orphan nuclear receptor coordinates growth and maturation in Drosophila

2005

0092-8674 (Print) Journal Article Research Support, Non-U.S. Gov't; A critical determinant of insect body size is the time at which the larva stops feeding and initiates wandering in preparation for metamorphosis. No genes have been identified that regulate growth by contributing to this key developmental decision to terminate feeding. We show here that mutations in the DHR4 orphan nuclear receptor result in larvae that precociously leave the food to form premature prepupae, resulting in abbreviated larval development that translates directly into smaller and lighter animals. In addition, we show that DHR4 plays a central role in the genetic cascades triggered by the steroid hormone ecdyson…

medicine.medical_specialtyEcdysonemedicine.medical_treatmentmedia_common.quotation_subjectRepressorReceptors Cytoplasmic and NuclearBiologymedicine.disease_causeGeneral Biochemistry Genetics and Molecular Biologychemistry.chemical_compoundInternal medicineReceptorsmedicineDrosophila ProteinsAnimalsMetamorphosisDrosophila/genetics/*growth & developmentPupa/physiologyRegulator genemedia_commonLarvaMutationMetamorphosisBiochemistry Genetics and Molecular Biology(all)Biological/physiologyfungiMetamorphosis BiologicalPupaGene Expression Regulation DevelopmentalDrosophila Proteins/genetics/*metabolismDevelopmental/physiologyCytoplasmic and Nuclear/genetics/*metabolismNeurosecretory SystemsCell biologyEcdysone/*metabolismSteroid hormoneEndocrinologyNuclear receptorchemistryGene Expression RegulationLarvaLarva/growth & developmentMutationNeurosecretory Systems/metabolismDrosophilaEcdysone
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Effects of antithrombin III (ATIII) treatment (high dose) in severe pre-eclampsia and HELLP syndrome with alterations of coagulation inhibitors and i…

2000

medicine.medical_specialtyEclampsiaProteinuriabusiness.industryHELLP syndromeAntithrombinCritical Care and Intensive Care Medicinemedicine.diseaseBioinformaticsGastroenterologyCoagulationPreliminary reportInternal medicineMeeting AbstractMedicinemedicine.symptombusinessmedicine.drug
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Metabolic enzymes in coelomic cells (eleocytes) of the polychaete Nereis virens: sex specific changes during sexual maturation

1993

The activities of some enzymes of the intermediary metabolism and the content of soluble protein and carbohydrate (glycogen plus free glucose) were measured in one type of coelomic cells (eleocytes) of the polychaete Nereis virens. Specimens used in this study were collected between 1989 and 1991 in Oosterscheldt Bay, The Netherlands, and divided into six different stages of sexual maturation as determined by the mean oocyte volume. In both sexes, the soluble protein content in eleocytes of immature individuals (11 mg ml−1 cell vol) increased three-fold. In prespawning N. virens the soluble protein content decreased to less than 2 mg protein ml−1 cell vol in females but not in males. In bot…

medicine.medical_specialtyEcologyGlycogenGlutamate dehydrogenaseMetabolismAquatic ScienceBiologyMalate dehydrogenasechemistry.chemical_compoundGlycogen phosphorylaseEndocrinologyBiochemistrychemistryInternal medicinemedicinebiology.proteinCitrate synthasePhosphoenolpyruvate carboxykinaseEcology Evolution Behavior and SystematicsPyruvate kinaseMarine Biology
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Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical rep…

2021

Abstract Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereb…

medicine.medical_specialtyEctodermal dysplasiaHay–Wells syndromeCleft LipAnkyloblepharonMutation MissenseErythrodermaCase ReportEctodermal dysplasiaPediatricsRJ1-570TP63medicineMissense mutationHumansEye Abnormalitiesbusiness.industryTumor Suppressor ProteinsAEC syndromeInfant NewbornTumor protein p63 geneEyelidsmedicine.diseaseAnkyloblepharon-ectodermal defects-cleft lip/palate syndromeDermatologyCleft Palatemedicine.anatomical_structureHay-Wells syndromeScalpAgenesisFemaleAEC syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Congenital skin disorders Ectodermal dysplasia Hay-Wells syndrome Tumor protein p63 genebusinessTranscription FactorsCongenital skin disordersItalian journal of pediatrics
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The endometrial microbiome of clinical miscarriage, ectopic pregnancy and during early pregnancy in a successful live-birth

2019

medicine.medical_specialtyEctopic pregnancybiologybusiness.industryObstetricsObstetrics and GynecologyEarly pregnancy factormedicine.diseaseMiscarriageReproductive Medicinebiology.proteinMedicineMicrobiomebusinessLive birthFertility and Sterility
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Efavirenz induces alterations in lipid metabolism through AMPK activation

2008

Summary of results EFV produced an immediate reduction of mitochondrialfunction, evident by the significant and dose-dependentinhibition of mitochondrial O2 consumption and thedecrease of intracellular ATP and Δψm. This metabolicstress promoted the activation of AMPK, triggering severalof its signalling pathways, as EFV induced an increment inCD36 mRNA expression and in intracellular lipid content,which could have been a result of the formation of lipiddroplets. This intracellular lipid increase was not presentin cells treated with Compound C, which points to a keyrole for AMPK in these mechanisms. Conclusion Given that EFV treatment is usually prolonged, thesemechanisms may effect the gene…

medicine.medical_specialtyEfavirenzbusiness.industryPublic Health Environmental and Occupational HealthAMPKLipid metabolismmedicine.diseasechemistry.chemical_compoundInfectious DiseasesEndocrinologychemistryInternal medicinemedicineLipodystrophybusinessProtein kinase ALipoatrophyIntracellularCompound cJournal of the International AIDS Society
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Angiotensin converting enzyme gene polimorfism and central obesity: relationship with blood pressure and left ventricular structure and function

2001

medicine.medical_specialtyEjection fractionMegalencephalic leukoencephalopathy with subcortical cystsbiologybusiness.industryDiastoleAngiotensin-converting enzymemedicine.diseaseInappropriate sinus tachycardiaBlood pressureWaist–hip ratioEndocrinologyInternal medicineInternal Medicinemedicinebiology.proteinCardiologySystolebusinessAmerican Journal of Hypertension
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