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Träfflista för sökning "AMNE:(MEDICAL AND HEALTH SCIENCES Basic Medicine Medicinal Chemistry) ;pers:(Carlson Joyce)"

Sökning: AMNE:(MEDICAL AND HEALTH SCIENCES Basic Medicine Medicinal Chemistry) > Carlson Joyce

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1.
  • De Basso, Rachel, et al. (författare)
  • Increased carotid plaque burden in men with the fibrillin-1 2/3 genotype
  • 2014
  • Ingår i: Clinical and Experimental Pharmacology and Physiology. - : Wiley. - 1440-1681 .- 0305-1870. ; 41:9, s. 637-642
  • Tidskriftsartikel (refereegranskat)abstract
    • Fibrillin-1 (FBN1) is an important constituent of the vascular wall and earlier studies have indicated an effect of the FBN1 2/3 genotype on blood pressure as well as aortic stiffness in men. The aim of the present study was to determine whether the FBN1 2/3 genotype was associated with the presence of carotid plaque and incident cardiovascular morbidity and mortality in middle-aged subjects. The FBN1 genotype was characterized in 5765 subjects (2424 men, 3341 women; age 45-69years) recruited from the Malmo Diet and Cancer Study Cardiovascular Cohort, Sweden. Plaque occurrence and intima-media thickness (IMT) of the carotid artery were assessed by ultrasound. The incidence of first cardiovascular events (myocardial infarction and stroke) and cause-specific mortality were monitored over a mean follow-up period of 13.2years. The most common FBN1 genotypes were 2/2, 2/3 and 2/4, which accounted for 92.2% (n=5317) of subjects. There were no differences between the three genotypes regarding age, blood pressure, glucose, lipids, smoking habits, common carotid artery diameter and intima-media thickness in men and women. The presence of plaque in the carotid artery was higher in men with the 2/3 genotype compared with the 2/2 and 2/4 genotypes (55% vs 46% and 50%, respectively; P=0.007). No similar differences were observed in women. No significant relationship was observed between FBN1 genotypes and the incidence of cardiovascular disease or all-cause mortality. The increased prevalence of plaque in the carotid artery of middle-aged men with the FBN1 2/3 genotype indicates pathological arterial wall remodelling with a more pronounced atherosclerotic burden.
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2.
  • Saxena, Richa, et al. (författare)
  • Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
  • 2007
  • Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 316:5829, s. 1331-1336
  • Tidskriftsartikel (refereegranskat)abstract
    • New strategies for prevention and treatment of type 2 diabetes (T2D) require improved insight into disease etiology. We analyzed 386,731 common single-nucleotide polymorphisms (SNPs) in 1464 patients with T2D and 1467 matched controls, each characterized for measures of glucose metabolism, lipids, obesity, and blood pressure. With collaborators (FUSION and WTCCC/UKT2D), we identified and confirmed three loci associated with T2D - in a noncoding region near CDKN2A and CDKN2B, in an intron of IGF2BP2, and an intron of CDKAL1 - and replicated associations near HHEX and in SLC30A8 found by a recent whole-genome association study. We identified and confirmed association of a SNP in an intron of glucokinase regulatory protein (GCKR) with serum triglycerides. The discovery of associated variants in unsuspected genes and outside coding regions illustrates the ability of genome-wide association studies to provide potentially important clues to the pathogenesis of common diseases.
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3.
  • Lavant, Ewa H., et al. (författare)
  • HLA DR-DQ genotyping by capillary electrophoresis for risk assessment for celiac disease.
  • 2013
  • Ingår i: Clinical Applications of Capillary Electrophoresis. - Totowa, NJ : Humana Press. - 9781627030281 - 9781627030298 ; 919, s. 297-307
  • Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
    • The risk for celiac disease (CD) is clearly related to specific HLA DQA1 and DQB1 alleles, but HLA -typing is often considered too costly for frequent use.Here we present a method using sequence-specific primed PCR (PCR-SSP) for HLA-DR-DQ genotyping optimized for capillary electrophoresis on Applied Biosystems 3130xl Genetic Analyzer. Requiring a total of three PCR reactions and a single electrophoretic step, this method reduces the reagent expenses and technical time for directed HLA typing to distinguish risk alleles for CD, with a sufficient throughput for large-scale screening projects.
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5.
  • Fredriksson, Jenny, et al. (författare)
  • Variation in GYS1 Interacts with Exercise and Gender to Predict Cardiovascular Mortality
  • 2007
  • Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 2:3
  • Tidskriftsartikel (refereegranskat)abstract
    • Background. The muscle glycogen synthase gene (GYS1) has been associated with type 2 diabetes (T2D), the metabolic syndrome (MetS), male myocardial infarction and a defective increase in muscle glycogen synthase protein in response to exercise. We addressed the questions whether polymorphism in GYS1 can predict cardiovascular (CV) mortality in a high-risk population, if this risk is influenced by gender or physical activity, and if the association is independent of genetic variation in nearby apolipoprotein E gene (APOE). Methodology/Principal Findings. Polymorphisms in GYS1 (XbaIC>T) and APOE (-219G>T, epsilon 2/epsilon 3/epsilon 4) were genotyped in 4,654 subjects participating in the Botnia T2D-family study and followed for a median of eight years. Mortality analyses were performed using Cox proportional-hazards regression. During the follow-up period, 749 individuals died, 409 due to CV causes. In males the GYS1 XbaI T-allele (hazard ratio (HR) 1.9 [1.2-2.9]), T2D (2.5 [1.7-3.8]), earlier CV events (1.7 [1.2-2.5]), physical inactivity (1.9 [1.2-2.9]) and smoking (1.5 [1.0-2.3]) predicted CV mortality. The GYS1 XbaI T-allele predicted CV mortality particularly in physically active males (HR 1.7 [1.3-2.0]). Association of GYS1 with CV mortality was independent of APOE (219TT/epsilon 4), which by its own exerted an effect on CV mortality risk in females (2.9 [1.9-4.4]). Other independent predictors of CV mortality in females were fasting plasma glucose (1.2 [1.1-1.2]), high body mass index (BMI) (1.0 [1.0-1.1]), hypertension (1.9 [1.2-3.1]), earlier CV events (1.9 [1.3-2.8]) and physical inactivity (1.9 [1.2-2.8]). Conclusions/Significance. Polymorphisms in GYS1 and APOE predict CV mortality in T2D families in a gender-specific fashion and independently of each other. Physical exercise seems to unmask the effect associated with the GYS1 polymorphism, rendering carriers of the variant allele less susceptible to the protective effect of exercise on the risk of CV death, which finding could be compatible with a previous demonstration of defective increase in the glycogen synthase protein in carriers of this polymorphism.
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6.
  • Sterner, Gunnar, et al. (författare)
  • Validation of a new plasma cystatin C-based formula and the Modification of Diet in Renal Disease creatinine-based formula for determination of glomerular filtration rate
  • 2009
  • Ingår i: Scandinavian Journal of Urology and Nephrology. - : Informa UK Limited. - 0036-5599 .- 1651-2065. ; 43:3, s. 242-249
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective. New proposed definitions of chronic kidney disease necessitate the development and use of simple and accurate methods for estimating glomerular filtration rate (GFR). Plasma cystatin C has been shown to be a more reliable GFR marker than creatinine and formulae for estimating GFR have been reported. The purpose of this study was to validate a cystatin C-based GFR prediction equation in a different population from the derivation set but using the cystatin C assay of a single laboratory, and to compare the results with that of the creatinine-based Modification of Diet in Renal Disease (MDRD) Study equation. Material and methods. A newly presented formula based on plasma cystatin C and gender and the MDRD formula based on creatinine for estimation of GFR were validated in an unselective patient material. Single sample iohexol clearance was used as the GFR reference method in 406 consecutive patients with GFR varying from normal to poor renal function. The creatinine assay used was standardized to express true plasma creatinine. Results. Median bias (1.1%) and accuracy (79.1% of the estimates within 30% of iohexol clearance) of the cystatin C formula were close to the derivation set. The accuracy was significantly higher than that of the original four-variable MDRD equation (73.2%; median bias 9.8%). However, the accuracy did not differ significantly from that of the re-expressed MDRD formula (79.6%; median bias 3.2%) based on true creatinine. Both formulae performed with a low bias and acceptable accuracy up to a GFR of 90 ml/min/1.73 m2. Conclusions. GFR estimation based on plasma cystatin C performed equally well in the validation as in the derivation set, and was as accurate as the re-expressed MDRD creatinine-based equation.
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7.
  • Verbaan, Hans, et al. (författare)
  • Extrahepatic manifestations of chronic hepatitis C infection and the interrelationship between primary Sjogren's syndrome and hepatitis C in Swedish patients
  • 1999
  • Ingår i: Journal of Internal Medicine. - : Wiley. - 1365-2796 .- 0954-6820. ; 245:2, s. 127-132
  • Tidskriftsartikel (refereegranskat)abstract
    • OBJECTIVE: To analyse the frequency of some extrahepatic manifestations of chronic hepatitis C virus (HCV) infection in northern European patients, including a postulated association between HCV and primary Sjogren's syndrome (SS). DESIGN: Cohort study. SETTING: Department of Medicine, Malmo University Hospital, Sweden. PATIENTS: Twenty-one patients with HCV infection and 53 with primary SS (according to the Copenhagen criteria). MAIN OUTCOME MEASURES: Cryoglobulins were analysed in all patients, while patients with primary SS were investigated with regard to markers of HCV infection, and HCV patients with objective tests of SS (Schirmer-1 test, break-up time, van Bijsterveld score, sialometry, labial salivary gland biopsy) and antibodies against nuclear antigens, smooth muscle (SMA) and mitochondria (AMA). HCV antigens in small salivary glands from lower lip biopsies were detected by immunohistochemical analysis. RESULTS: Only one of the SS patients had detectable cryoprecipitates, while another was HCV-positive. None of the 21 HCV patients had cryoprecipitates. A total of 14/21 (67%) patients with HCV infection had at least one abnormal objective test suggestive of xerostomia or keratoconjunctivitis sicca, while eight (38%) had objective evidence of both eye and salivary gland involvement. HCV antigens were not detected in affected glands. Only two patients had clinical symptoms of SS, and two fulfilled the Copenhagen criteria for SS. None of the HCV-positive patients had detectable antibodies against SS-A, SS-B, RNP, Jo-1, PCNA or Scl-70, and the frequency of ANA/SMA/AMA was low. CONCLUSIONS: While involvement of salivary and lacrimal glands was common in Swedish patients with HCV infection, cryoglobulinaemia was not observed. The pathogenetic mechanism responsible for glandular inflammation appears to be different from that in primary SS. HCV infection does not seem to be an aetiological factor for primary SS in this population. These observations suggest that viral, genetic or possibly environmental factors may be responsible for the reported high frequencies of systemic complications associated with chronic hepatitis C infection in southern Europe.
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8.
  • Ivarsson, Malin, et al. (författare)
  • Extraction, quantitation, and evaluation of function DNA from various sample types.
  • 2011
  • Ingår i: Methods in Molecular Biology. - Totowa, NJ : Humana Press. - 1940-6029. ; 675, s. 261-277
  • Tidskriftsartikel (refereegranskat)abstract
    • Two vital pre-requisites for genetic epidemiology have been fullfiled during the past decade and have led to a virtual explosion of knowledge concerning disease risks. Reliable databases over genetic variation derived from, e.g. the HUGO and HapMap projects, coupled with technological advances make large-scale genetic analyses and downstream bioinformatics suddenly affordable. Although recent prospective population-based biobanks have included DNA collection and purification in their planning, it is the older projects that currently are of greatest value due to the numbers of accumulated disease endpoints. In this chapter, methods to purify and use DNA derived from a variety of archival materials, including whole blood, formalin-fixed paraffin-embedded (FFPE) tissues, sera, dried blood spots (DBS), cervical cell suspensions, and mouthwash are presented and evaluated in a context of quality control guidelines to provide objective measure of the usefulness of various sample types for genetic epidemiology.
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9.
  • Nelson, Dick, et al. (författare)
  • Semi-automated quantification of methylmalonic acid in human serum by LC-MS/MS
  • 2012
  • Ingår i: Scandinavian Journal of Clinical & Laboratory Investigation. - : Informa UK Limited. - 1502-7686 .- 0036-5513. ; 72:6, s. 441-446
  • Tidskriftsartikel (refereegranskat)abstract
    • Background. Methylmalonic acid (MMA), a sensitive biomarker of functional vitamin B12 deficiency, is commonly determined by gas chromatography-mass spectrometry (GC-MS) or liquid chromatography-tandem mass spectrometry (LC-MS/MS) methods using manual extraction and derivatization of MMA to reduce polarity prior to separation. Methods. In the present study we introduce a semi-automated extraction on a strong anion exchanger, HPLC separation on a BEH-amide column to separate serum MMA from its abundant isoform, succinic acid, followed by MS/MS detection and quantification. Results. The extraction of MMA plus internal standard provides full recovery and the method is linear between 0.03 mu mol/L and 20.0 mu mol/L (r(2) = 1.0) with intra-and inter-assay imprecision of 2.2%. Agreement with other laboratories has been demonstrated in external proficiency testing. Compared to both conventional GC-MS and LC-MS/MS methods, the correlation is r(2) > 0.99. Conclusions. The use of robotic pipetting, elimination of derivatization and improved separation by the BEH-amide column combined with HILIC chromatographic conditions significantly improve sample throughput compared to conventional methods. Using a single pipetting robot and LC-MS/MS instrument, this method is currently performing 180 analyses per day from 10 regional hospitals and several additional distant sites.
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