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Mutations in SUFU predispose to medulloblastoma 总被引:8,自引:0,他引:8
Taylor MD Liu L Raffel C Hui CC Mainprize TG Zhang X Agatep R Chiappa S Gao L Lowrance A Hao A Goldstein AM Stavrou T Scherer SW Dura WT Wainwright B Squire JA Rutka JT Hogg D 《Nature genetics》2002,30(3):306-310
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis (Ollier and Maffucci diseases). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to chondrosarcoma. The extent of skeletal involvement is variable in enchondromatosis and may include dysplasia that is not directly attributable to enchondromas. Enchondromatosis is rare, obvious inheritance of the condition is unusual and no candidate loci have been identified. Enchondromas are usually in close proximity to, or in continuity with, growth-plate cartilage. Consequently, they may result from abnormal regulation of proliferation and terminal differentiation of chondrocytes in the adjoining growth plate. In normal growth plates, differentiation of proliferative chondrocytes to post-mitotic hypertrophic chondrocytes is regulated in part by a tightly coupled signaling relay involving parathyroid hormone related protein (PTHrP) and Indian hedgehog (IHH). PTHrP delays the hypertrophic differentiation of proliferating chondrocytes, whereas IHH promotes chondrocyte proliferation. We identified a mutant PTH/PTHrP type I receptor (PTHR1) in human enchondromatosis that signals abnormally in vitro and causes enchondroma-like lesions in transgenic mice. The mutant receptor constitutively activates Hedgehog signaling, and excessive Hedgehog signaling is sufficient to cause formation of enchondroma-like lesions. 相似文献
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Wieslaw Szczesny 《Journal of Classification》1991,8(2):201-215
In two-class discriminant problems, objects are allocated to one of the two classes by means of threshold rules based on discriminant
functions. In this paper we propose to examine the quality of a discriminant functiong in terms of its performance curve. This curve is the plot of the two misclassification probabilities as the thresholdt assumes various real values. The role of such performance curves in evaluating and ordering discriminant functions and solving
discriminant problems is presented. In particular, it is shown that: (i) the convexity of such a curve is a sufficient condition
for optimal use of the information contained in the data reduced byg, and (ii)g with non-convex performance curve should be corrected by an explicitly obtained transformation. 相似文献
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