65 research outputs found

    Linkage disequilibrium plot of the polymorphisms investigated in the <i>MASP1</i> gene.

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    <p>Numbers in squares are R<sup>2</sup>-values in percent and empty squares indicates R<sup>2</sup>-values <1%. D’ and LOD scores are indicated by a color code.</p

    Schematic presentation of the <i>MASP1</i> gene and transcripts.

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    <p><b>A</b> While the size of exons and the promoter region are drawn to scale the introns are truncated. The MES region indicates the region where the mutually exclusive splicing takes place that generates the three proteins. All SNPs investigated in this report are marked as either a non-synonymous mutation or not. Grey boxes indicated translated part of the exons. <b>B</b> The primary transcript can be spliced to three different mRNAs coding for MASP-1, MASP-3, and MAp44. <b>C</b> MASP-1 and -3 share five domains encoded by exons 1–8, 10 and 11 (the A-chain). CUB = C1r/C1s, Uegf, Bmp1; EGF = epidermal growth factor and CCP = complement control protein. They have unique serine protease domains (B-chains), encoded by exon 12 (MASP-3) and exons 13–18 (MASP-1). MAp44 shares the first four domains with MASP-1 and MASP-3, followed by a unique C-terminal, encoded by exon 9.</p

    Graphical presentation of the effect of genotypes on MASP-1, MASP-3, and MAp44 concentrations.

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    <p>Each individual is marked with a circle. The box indicates median and inter quartile values. The rs-numbers of the SNPs depicted are given below each graph.</p

    Is the accuracy of preoperative MRI stage in rectal adenocarcinoma influenced by tumour height?

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    <p><b>Aim:</b> To our knowledge, no prior studies have addressed the possible effects of tumour height on the accuracy of preoperative magnetic resonance imaging (MRI)-based staging relative to postoperative histopathological assessments in patients with adenocarcinoma of the rectum (RC). This study aimed to investigate whether the accuracy of preoperative MRI stage in RC is influenced by tumour height.</p> <p><b>Methods:</b> A total of 489 consecutive RC patients scheduled for curative treatment between 2009 and 2013 were included. Of the 489 patients, 133 patients had preoperative chemoradiotherapy (CRT), and 356 patients underwent primary surgery. Low, mid and high RC were defined as a tumour <5 cm, 5–10 cm and >10 cm from the anal verge, respectively. Diagnostic MRI and, for patients with CRT, re-staging MRI features including tumour T-stage (mrT), distance between the tumour border and the distance to the mesorectal fascia (mrMRF), extramural tumour depth (mrEMD), extramural vascular invasion (mrEMVI) and nodal involvement (mrN) were correlated with the corresponding postoperative histopathological findings.</p> <p><b>Results:</b> There were 115, 186 and 188 patients with low RC, mid RC and high RC, respectively. For all patients, the correlations between mrT and pT and between mrMRF and pCRM were not influenced by tumour height. None of the correlations between mrEMD, mrEMVI and mrN and the corresponding postoperative histopathological findings significantly differed for tumours of different heights. For patients with CRT, a remarkable proportion with low RC were overstaged as ymrT3 compared to ypT0-2.</p> <p><b>Conclusions:</b> The ability to preoperatively use MRI to accurately stage is not influenced by tumour height. For patients with preoperative CRT, low RC may be MRI overstaged due to post-radiation fibrosis. We found that mrEMD predicts pEMD reliably and should therefore be considered in treatment decisions. Although new MRI techniques are emerging, preoperative RC staging remains incompletely definitive in daily clinical practice.</p

    Explained and unexplained variation in the three <i>MASP1</i> proteins.

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    <p>The pie charts depict the total amount of variation explained of the three protein concentrations as a result of a multiple regression analysis. “SNPs” represents the total variation of the 15 SNPs investigated. </p

    Frequencies, concentrations and predicted effect of non-synonymous coding SNPs found in <i>FCN1</i>.

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    <p><b>1</b> SIFT range from 0 to 1; a score <0.05 are predicted to be deleterious, whereas >0.05 are more likely to be tolerated.</p><p><b>2</b> PolyPhen-2 appraises a mutation qualitatively, as benign, possibly damaging, or probably damaging. <b>m</b> male gender <b>f</b> female gender, age is given in superscript after gender. Data is derived Exome Variant Server, NHLBI Exome Sequencing Project (ESP), Seattle, WA (URL: <a href="http://evs.gs.washington.edu/EVS/" target="_blank">http://evs.gs.washington.edu/EVS/</a>) v.0.0.14. (June 20, 2012);</p><p><b>3</b> European-American population (n = 4300).</p><p><b>4</b> African-American population (n = 2203).</p

    Characterization of five recombinant M-ficolin proteins. A

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    <p>The M-ficolin concentration measured in the supernatant of HEK293F cells transfected with plasmid encoding variants of M-ficolin. The wild type used as reference and the dotted line represents this value (100%). Boxes indicate range of data including median value. <b>B</b> Western blotting of supernatant from the wild type and the five variants of M-ficolin. For <i>Ser268Pro</i> also a lysate of the cells were used. The mutation for each variant is given beneath the lane. <b>C</b> Binding of recombinant M-ficolin to Streptococcus agalactiae serotype VI (GBS) The counts on the y-axis were obtained following incubation in GBS coated wells with recombinant M-ficolin and anti-M-ficolin antibody. Results displayed in <b>A</b> are from three while <b>B</b> and <b>C</b> are from two replicated experiments.</p
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