Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN
Author:
Publisher
Oxford University Press (OUP)
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/14/16/2459/17241498/ddi246.pdf
Reference50 articles.
1. Marsh, D.J., Coulon, V., Lunetta, K.L., Rocca-Serra, P., Dahia, P.L., Zheng, Z., Liaw, D., Caron, S., Duboue, B., Lin, A.Y. et al. (1998) Mutation spectrum and genotype–phenotype analyses in Cowden disease and Bannayan–Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum. Mol. Genet., 7, 507–515.
2. Marsh, D.J., Kum, J.B., Lunetta, K.L., Bennett, M.J., Gorlin, R.J., Ahmed, S.F., Bodurtha, J., Crowe, C., Curtis, M.A., Dasouki, M. et al. (1999) PTEN mutation spectrum and genotype–phenotype correlations in Bannayan–Riley–Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum. Mol. Genet., 8, 1461–1472.
3. Zhou, X.P., Waite, K.A., Pilarski, R., Hampel, H., Fernandez, M.J., Bos, C., Dasouki, M., Feldman, G.L., Greenberg, L.A., Ivanovich, J. et al. (2003) 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. Am. J. Hum. Genet., 73, 404–411.
4. Eng, C. (2003) PTEN: one gene, many syndromes. Hum. Mutat., 22, 183–198.
5. Pilarski, R. and Eng, C. (2004) Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J. Med. Genet., 41, 323–326.
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