Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome-Reference-Cited by-同舟云学术

Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome

Published:2007-03-06 Issue:9 Volume:16 Page:1058-1071
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Pezzolesi Marcus G.,Zbuk Kevin M.,Waite Kristin A.,Eng Charis

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/16/9/1058/2009027/ddm053.pdf

Reference57 articles.

1. Mutation spectrum and genotype–phenotype analyses in Cowden disease and Bannayan–Zonana syndrome, two hamartoma syndromes with germline PTEN mutation;Marsh;Hum. Mol. Genet.,1998

2. PTEN mutation spectrum and genotype–phenotype correlations in Bannayan–Riley–Ruvalcaba syndrome suggest a single entity with Cowden syndrome;Marsh;Hum. Mol. Genet.,1999

3. 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;Zhou;Am. J. Hum. Genet.,2003

4. PTEN: one gene, many syndromes;Eng;Hum. Mutat.,2003

5. PTEN: a tumour suppressor that functions as a phospholipid phosphatase;Maehama;Trends Cell Biol.,1999

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