Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Aaron H. Philips"'
Autor:
Kara N. Maxwell, Maureen E. Murphy, Raul C. Ribeiro, Gerard P. Zambetti, Richard W. Kriwacki, Sheri L. Spunt, Carolyn Fein Levy, Morris C. Edelman, Brooke Levin, Fergus J. Couch, Kelly McGoldrick, Stephanie Gutierrez, Jill S. Dolinsky, Kenneth Offit, Vijai Joseph, Judy E. Garber, Jill E. Stopfer, Jeffrey N. Weitzel, Thomas P. Slavin, Susan M. Domchek, Katherine L. Nathanson, Kristin Zelley, Louise C. Pyle, Suzanne P. MacFarland, Marilyn M. Li, Anh N. Le, Gregory Kelly, Ryan Hausler, Heena Desai, Aaron H. Philips, Andrew V. Kossenkov, Tetyana Martynyuk, Jessica C. Leung, Thibaut Barnoud, Emilia M. Pinto, Jacquelyn Powers
Supplementary Figures 1-4. Supplementary Figure S1: Full Pedigrees from TP53 c.1000G>C;p.G334R clinically ascertained families. Fam ID allows reference to Table 1; Supplementary Figure S2: Constructs encoding p53 wild-type (TP53-WT), p53-R175H (TP53-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39c00e89c5b7cf956aea60439d2d5560
https://doi.org/10.1158/0008-5472.22425756
https://doi.org/10.1158/0008-5472.22425756
Autor:
Kara N. Maxwell, Maureen E. Murphy, Raul C. Ribeiro, Gerard P. Zambetti, Richard W. Kriwacki, Sheri L. Spunt, Carolyn Fein Levy, Morris C. Edelman, Brooke Levin, Fergus J. Couch, Kelly McGoldrick, Stephanie Gutierrez, Jill S. Dolinsky, Kenneth Offit, Vijai Joseph, Judy E. Garber, Jill E. Stopfer, Jeffrey N. Weitzel, Thomas P. Slavin, Susan M. Domchek, Katherine L. Nathanson, Kristin Zelley, Louise C. Pyle, Suzanne P. MacFarland, Marilyn M. Li, Anh N. Le, Gregory Kelly, Ryan Hausler, Heena Desai, Aaron H. Philips, Andrew V. Kossenkov, Tetyana Martynyuk, Jessica C. Leung, Thibaut Barnoud, Emilia M. Pinto, Jacquelyn Powers
Germline mutations in TP53 cause a rare high penetrance cancer syndrome, Li–Fraumeni syndrome (LFS). Here, we identified a rare TP53 tetramerization domain missense mutation, c.1000G>C;p.G334R, in a family with multiple late-onset LFS-spectrum canc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b22083b0736e430d002f93b84e42e5
https://doi.org/10.1158/0008-5472.c.6512130
https://doi.org/10.1158/0008-5472.c.6512130
Autor:
Fergus J. Couch, Marilyn M. Li, Tetyana Martynyuk, Kelly McGoldrick, Suzanne P. MacFarland, Judy Garber, Heena Desai, Raul C. Ribeiro, Jessica C. Leung, Katherine L. Nathanson, Stephanie Gutierrez, Kara N. Maxwell, Jeffrey N. Weitzel, Emilia M. Pinto, Richard W. Kriwacki, B. Levin, Louise C. Pyle, Anh N Le, Ryan Hausler, Gerard P. Zambetti, Andrew V. Kossenkov, Maureen E. Murphy, Sheri L. Spunt, Kenneth Offit, Thibaut Barnoud, Aaron H. Philips, Vijai Joseph, Morris Edelman, Jacquelyn Powers, Gregory Kelly, Kristin Zelley, Thomas P. Slavin, Jill S. Dolinsky, Jill E. Stopfer, Susan M. Domchek, Carolyn Fein Levy
Publikováno v:
Cancer Research. 80:3732-3744
Germline mutations in TP53 cause a rare high penetrance cancer syndrome, Li–Fraumeni syndrome (LFS). Here, we identified a rare TP53 tetramerization domain missense mutation, c.1000G>C;p.G334R, in a family with multiple late-onset LFS-spectrum canc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e54724e4dbe56432827206d783db53eb
https://doi.org/10.1158/0008-5472.can-20-1390
https://doi.org/10.1158/0008-5472.can-20-1390
