2-24
Writing and Publishing Scientific Articles
Here is a second example:
Introduction • Osteoporosis as a public health problem • Genetic factors involved • High-bone-mass genetic disorder linked to 11q12–13 • Low-bone-mass genetic disorder (osteoporosis-pseudoglioma) linked to 11q12–13 and LRP5 (involved in Wnt signaling) • We hypothesize that high bone mass and LRP5 are also linked Methods • Subjects — 20 members of one kindred (redraw kindred with new kindred-drawing program): medical histories, bone-density measurements, and blood and urine samples collected • Bone-density measurements (ask John the model number of the densitometer) • Biochemical evaluation (list all serum and urinary proteins studied; need to get normal ranges) • Genetic studies (11q marker analysis; don’t forget to mention controls) • In vitro biochemical studies (transfection of NIH3T3 cells with wild-type or mutant LRP5 and a transcription factor activated by Wnt) Results (base on figures and tables I used in dept. presentation last month) • Identification of the kindreds o Figure 1 (ask Shannon if we have a better photo of mandible) • Bone density o Table 1 (include subject who died?) & Figure 2 (redraw with new program) • Biochemical findings o Table 2 • Point mutation in LRP5 o Figure 2 & Figure 3 (add homology diagram) • Molecular studies o Table 2 & Figure 4 Discussion • Answer to hypothesis: Gain-of-function mutation in LRP5 causes autosomal dominant disorder with high bone density, torus palatinus, wide and deep mandible
• Possible model • Little et al. study • Possible diagnosis by genetic test • Role of LRP5 protein in osteoporosis?
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