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Allele-specific tumor spectrum in Pten knockin mice

Germline mutations in the tumor suppressor gene PTEN (phosphatase and tensin homology deleted on chromosome 10) cause Cowden and Bannayan—Riley—Ruvalcaba (BRR) syndromes, two dominantly inherited disorders characterized by mental retardation, multiple hamartomas, and variable cancer risk. Here, we m... Full description

Main Author: Wang, Hui
Contributors: Karikomi, Matt | Author
Naidu, Shan | Author
Rajmohan, Ravi | Author
Caserta, Enrico | Author
Chen, Hui-Zi | Author
Rawahneh, Maysoon | Author
Moffitt, Julie | Author
Stephens, Julie A. | Author
Fernandez, Soledad A. | Author
Weinstein, Michael | Author
Wang, Danxin | Author
Sadee, Wolfgang | Author
La Perle, Krista | Author
Stromberg, Paul | Author
Rosol, Thomas J. | Author
Eng, Charis | Author
Ostrowski, Michael C. | Author
Leone, Gustavo | Author
de la Chapelle, Albert | Author
Contained in: Proceedings of the National Academy of Sciences of the United States of America Washington, DC : National Acad. of Sciences Vol. 107, No. 11 (2010), p. 5142-5147
Journal Title: Proceedings of the National Academy of Sciences of the United States of America
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Links: Volltext (www.jstor.org)
ISSN: 0027-8424
Additional Keywords: research-article
Language: English
Physical Description: Online-Ressource
ID (e.g. DOI, URN): 25664940
PPN (Catalogue-ID): JST070483906
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Internes Format
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100 1 |a Wang, Hui 
245 1 0 |a Allele-specific tumor spectrum in <italic>Pten</italic> knockin mice  |h Elektronische Ressource 
300 |a Online-Ressource 
520 |a Germline mutations in the tumor suppressor gene PTEN (phosphatase and tensin homology deleted on chromosome 10) cause Cowden and Bannayan—Riley—Ruvalcaba (BRR) syndromes, two dominantly inherited disorders characterized by mental retardation, multiple hamartomas, and variable cancer risk. Here, we modeled three sentinel mutant alleles of PTEN identified in patients with Cowden syndrome and show that the nonsense Pten <sup>Δ4–5</sup> and missense Pten <sup>C124R</sup> and Pten <sup>G129E</sup> alleles lacking lipid phosphatase activity cause similar developmental abnormalities but distinct tumor spectra with varying severity and age of onset. Allele-specific differences may be accounted for by loss of function for Pten <sup>Δ4–5</sup> , hypomorphic function for Pten <sup>C124R</sup> , and gain of function for Pten <sup>G129E</sup> . These data demonstrate that the variable tumor phenotypes observed in patients with Cowden and BRR syndromes can be attributed to specific mutations in PTEN that alter protein function through distinct mechanisms. 
653 |a research-article 
700 1 |a Karikomi, Matt  |e verfasserin  |4 aut 
700 1 |a Naidu, Shan  |e verfasserin  |4 aut 
700 1 |a Rajmohan, Ravi  |e verfasserin  |4 aut 
700 1 |a Caserta, Enrico  |e verfasserin  |4 aut 
700 1 |a Chen, Hui-Zi  |e verfasserin  |4 aut 
700 1 |a Rawahneh, Maysoon  |e verfasserin  |4 aut 
700 1 |a Moffitt, Julie  |e verfasserin  |4 aut 
700 1 |a Stephens, Julie A.  |e verfasserin  |4 aut 
700 1 |a Fernandez, Soledad A.  |e verfasserin  |4 aut 
700 1 |a Weinstein, Michael  |e verfasserin  |4 aut 
700 1 |a Wang, Danxin  |e verfasserin  |4 aut 
700 1 |a Sadee, Wolfgang  |e verfasserin  |4 aut 
700 1 |a La Perle, Krista  |e verfasserin  |4 aut 
700 1 |a Stromberg, Paul  |e verfasserin  |4 aut 
700 1 |a Rosol, Thomas J.  |e verfasserin  |4 aut 
700 1 |a Eng, Charis  |e verfasserin  |4 aut 
700 1 |a Ostrowski, Michael C.  |e verfasserin  |4 aut 
700 1 |a Leone, Gustavo  |e verfasserin  |4 aut 
700 1 |a de la Chapelle, Albert  |e verfasserin  |4 aut 
773 0 8 |i in  |t Proceedings of the National Academy of Sciences of the United States of America  |d Washington, DC : National Acad. of Sciences  |g Vol. 107, No. 11 (2010), p. 5142-5147  |q 107:11<5142-5147  |w (DE-601)JST069399220  |x 0027-8424 
856 4 1 |u https://www.jstor.org/stable/25664940  |3 Volltext 
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951 |a AR 
952 |d 107  |j 2010  |e 11  |h 5142-5147