Search results for "Missense"

showing 3 items of 303 documents

FGFR2mutation in 46,XY sex reversal with craniosynostosis

2015

Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which range from hypospadias to complete male-to-female sex reversal. However, a molecular diagnosis is made in only 30% of cases. Heterozygous mutations in the human FGFR2 gene cause various craniosynostosis syndromes including Crouzon and Pfeiffer, but testicular defects were not reported. Here, we describe a patient whose features we would suggest represent a new FGFR2-related syndrome, craniosynostosis with XY male-to-female sex reversal or CSR. The craniosynostosis patient was chromosomally XY, but presented as a phenotypic female due to complete GD. DNA sequencing identified the FGFR2c heterozygous missense mutatio…

musculoskeletal diseasesMalemedicine.medical_specialtyGonadAdolescentDNA Mutational AnalysisMutation MissenseGonadal dysgenesisBiologymedicine.disease_causeCraniosynostosisXY gonadal dysgenesisCraniosynostosesMiceInternal medicineGeneticsmedicineAnimalsHumansMissense mutationGene Knock-In TechniquesReceptor Fibroblast Growth Factor Type 2Molecular BiologyGenetics (clinical)Gonadal Dysgenesis 46XYGeneticsMutationArticlesSyndromeGeneral MedicineSex reversalmedicine.diseaseMice Mutant StrainsDisease Models AnimalEndocrinologymedicine.anatomical_structurePfeiffer syndromeFemaleHuman Molecular Genetics
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Plasma PAF-acetylhydrolase in patients with coronary artery disease: results of a cross-sectional analysis.

2003

Inflammation underlies both onset and perpetuation of atherosclerosis. Plasma lipoproteins transport the platelet-activating factor-acetylhydrolase (PAF-AH) with potentially anti-inflammatory activities. Our aim was to determine whether PAF-AH activity was associated with inflammatory markers and with coronary artery disease (CAD). PAF-AH activity and a panel of inflammatory mediators were measured in plasma of 496 patients with CAD and in 477 controls; 276 patients presented with stable angina pectoris and 220 with acute coronary syndrome (ACS). Individuals within the highest quartile of PAF-AH activity had an 1.8-fold increase in CAD risk [95% confidence interval (CI), 1.01 to 3.2; P = 0.…

platelet-activating factorAdultMaleRiskmedicine.medical_specialtyAcute coronary syndromePAF acetylhydrolaseStatinCross-sectional studymedicine.drug_classMutation MissenseInflammationAngiotensin-Converting Enzyme InhibitorsQD415-436Coronary Artery DiseaseBiochemistryCoronary artery diseaseEndocrinologySex FactorsRisk FactorsInternal medicinemedicineHumansAgedInflammationbusiness.industryCell BiologySyndromeMiddle Agedmedicine.diseaseConfidence intervalCross-Sectional StudiesQuartile1-Alkyl-2-acetylglycerophosphocholine EsteraseAcute DiseaseCardiologylipids (amino acids peptides and proteins)Femaleatherosclerosismedicine.symptombusinessJournal of lipid research
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Molecular Characterization of a Variant of Bacillus anthracis-Specific Phage AP50 with Improved Bacteriolytic Activity▿ †

2008

ABSTRACT The genome sequence of a Bacillus anthracis -specific clear plaque mutant phage, AP50c, contains 31 open reading frames spanning 14,398 bp, has two mutations compared to wild-type AP50t, and has a colinear genome architecture highly similar to that of gram-positive Tectiviridae phages. Spontaneous AP50c-resistant B. anthracis mutants exhibit a mucoid colony phenotype.

virusesMutantMolecular Sequence DataMutation MissenseGenetics and Molecular BiologyBacillus PhagesGenome ViralViral Plaque AssayApplied Microbiology and BiotechnologySyntenyBacteriophageBacteriolysisGene OrderPoint MutationBacillus (shape)Whole genome sequencingGeneticsEcologybiologyBase SequenceTectivirusVirionSequence Analysis DNAbiology.organism_classificationBacillus anthracisOpen reading frameBacillus anthracisDNA ViralTectiviridaeFood ScienceBiotechnologyTectiviridae
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