1. Germline Inactivation of PTEN and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway Cause Human Lhermitte-Duclos Disease in Adults 
Xiao-Ping Zhou, Deborah J. Marsh, Carl D. Morrison, Abhik R. Chaudhury, Marius Maxwell, Guido Reifenberger, Charis Eng 
The American Journal of Human Genetics 
Volume 73, Issue 5, Pages (November 2003)
DOI: /379382
Copyright © 2003 The American Society of Human Genetics Terms and Conditions

2. Figure 1
Loss of PTEN expression leads to elevated P-Akt levels detected by immunohistochemistry in LDD. a, Moderate to strong PTEN immunostaining intensity (brown) in the neurons of the granular-cell, Purkinje-cell, and molecular layers of adjacent normal cerebellar section. b, Loss of PTEN immunostaining in dysplastic ganglion cells of LDD. c, Markedly elevated P-Akt immunoexpression (brown) in the dysplastic neurons, predominantly in the cytoplasm. Sections were counterstained with methyl green (light blue) or hematoxylin (blue). Original magnification, 20×.
The American Journal of Human Genetics  , DOI: ( /379382)
Copyright © 2003 The American Society of Human Genetics Terms and Conditions

3. Figure 2
Spectrum of germline PTEN mutations detected in patients with LDD. A schematic of the nine-exon gene is displayed. Mutations (n=16) denoted above the bar were detected in this study. Mutations (n=14) underneath the bar were reported elsewhere.
The American Journal of Human Genetics  , DOI: ( /379382)
Copyright © 2003 The American Society of Human Genetics Terms and Conditions