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Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway

Xiao-Ping Zhou, Kristin Waite, Robert Pilarski, Heather Hampel, Magali Fernandez, Cindy Bos, Majed Dasouki, Gerald L. Feldman, Lois A. Greenberg, Jennifer Ivanovich,

The American Journal of Human Genetics · 2003 · 283 citations · 22 references

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References

22

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

Danny Liaw, Jing Li, Patricia L. M. Dahia et al. · Nature Genetics · 1997 · 2.1K citations

, , +16

Regulation of PTEN Transcription by p53

Vuk Stambolic, David MacPherson, D. Sas et al. · Molecular Cell · 2001 · 915 citations · Full text

, , +12

Phosphorylation of the PTEN Tail Regulates Protein Stability and Function

Francisca Vázquez, Shivapriya Ramaswamy, Noriaki Nakamura et al. · Molecular and Cellular Biology · 2000 · 781 citations

, , +17

Localization of the gene for Cowden disease to chromosome 10q22–23

Marcel Nelen, G.W. Padberg, E Peeters et al. · Nature Genetics · 1996 · 670 citations

, , +10

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

Deborah J. Marsh · Human Molecular Genetics · 1998 · 660 citations · Full text

, , +17