Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Suzanne P, MacFarland"'
Autor:
Darren Liu, Suzanne P. MacFarland, Lamis Yehia, Melani M. Duvall, Petar Mamula, Jacob A. Kurowski, Colleen S. Greene, Kadakkal Radhakrishnan, Charis Eng
Publikováno v:
Gastro Hep Advances, Vol 3, Iss 2, Pp 250-259 (2024)
Background and Aims: PTEN hamartoma tumor syndrome (PHTS) confers a high risk of specific cancers and is the most common genetic cause of autism spectrum disorder (ASD). Gastrointestinal (GI) phenotypes in PHTS are poorly characterized in children. T
Externí odkaz:
https://doaj.org/article/316bbdaa14d14221be30e950eba89e8b
Autor:
Haley Newman, Mary Egan Clark, Derek Wong, Jinhua Wu, Garrett M Brodeur, Stephen P Hunger, Sarah K Tasian, Timothy Olson, Julia T. Warren, David T Teachey, Kira Bona, Jeffrey Schubert, Netta Golenberg, Maha Patel, Elizabeth H Denenberg, Elizabeth A Fanning, Jiani Chen, Tamara Luke, Sarah Charles, Daniel Gallo, Kajia Cao, Weixuan Fu, Zhiqian Fan, Lea F Surrey, Gerald Wertheim, Minjie Luo, Suzanne P MacFarland, Marilyn M Li, Yiming Zhong
Publikováno v:
Haematologica, Vol 999, Iss 1 (2024)
Not available.
Externí odkaz:
https://doaj.org/article/39f2d8cef8eb498bb68523732629bf05
Autor:
Haley Newman, Suzanne P. MacFarland, Garrett M. Brodeur, Timothy Olson, Deepa Bhojwani, Jamie Stokke, Alexandra E. Kovach, Mary Egan Clark, Minjie Luo, Marilyn Li, Amish Shah, Stephen P. Hunger
Publikováno v:
Haematologica, Vol 109, Iss 5 (2023)
Externí odkaz:
https://doaj.org/article/e5934ce82a1d4d1ea40be677dec2b6f5
Autor:
Julio C. Ricarte-Filho, Victoria Casado-Medrano, Erin Reichenberger, Zachary Spangler, Michele Scheerer, Amber Isaza, Julia Baran, Tasleema Patel, Suzanne P. MacFarland, Garrett M. Brodeur, Douglas R. Stewart, Zubair Baloch, Andrew J. Bauer, Jonathan D. Wasserman, Aime T. Franco
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
DICER1 is a highly conserved RNase III endoribonuclease essential for the biogenesis of single-stranded mature microRNAs (miRNAs) from stem-loop precursor miRNAs. Somatic mutations in the RNase IIIb domain of DICER1 impair its ability to generate mat
Externí odkaz:
https://doaj.org/article/3431019e8d2449dcababb11b49f65c34
Autor:
Lea F. Surrey, Suzanne P. MacFarland, Fengqi Chang, Kajia Cao, Komal S. Rathi, Gozde T. Akgumus, Daniel Gallo, Fumin Lin, Adam Gleason, Pichai Raman, Richard Aplenc, Rochelle Bagatell, Jane Minturn, Yael Mosse, Mariarita Santi, Sarah K. Tasian, Angela J. Waanders, Mahdi Sarmady, John M. Maris, Stephen P. Hunger, Marilyn M. Li
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
Abstract Background Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based
Externí odkaz:
https://doaj.org/article/eec4d1d003314ae5aad41becf241a762
Autor:
Suzanne P. MacFarland, Luke Maese, Surya P. Rednam, Junne Kamihara, Melissa R. Perrino, Kim E. Nichols, Garrett M. Brodeur, Joshua D. Schiffman, Sharon E. Plon, Lisa R. Diller, David Malkin, Christopher C. Porter, Anita Villani
Publikováno v:
Cancer Prevention Research. 15:645-652
Germline pathogenic variants in cancer susceptibility genes are identified in up to 18% of all children with cancer. Because pediatric cancer predisposition syndromes (CPS) themselves are rare and underrecognized, there are limited data to guide the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ef9f2c0f905a8626101257bcd6bcc4
https://doi.org/10.1158/1940-6207.capr-22-0215
https://doi.org/10.1158/1940-6207.capr-22-0215
Autor:
Garrett M. Brodeur, Kai Tan, Yuxuan Hu, Venkatadri Kolla, Peng Guan, Radhika Iyer, Koumudi Naraparaju, Suzanne P. MacFarland
IC50 for resistant cell lines as compared to IC50 of parental cell line
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5e08640fb48860667020285417ad32d
https://doi.org/10.1158/1535-7163.22505866.v1
https://doi.org/10.1158/1535-7163.22505866.v1
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:
Jennifer L Stundon, Heba Ijaz, Krutika S Gaonkar, Rebecca S Kaufman, Run Jin, Anastasios Karras, Zalman Vaksman, Jung Kim, Ryan J Corbett, Matthew R Lueder, Daniel P Miller, Yiran Guo, Mariarita Santi, Marilyn Li, Gonzalo Lopez, Phillip B Storm, Adam C Resnick, Angela J Waanders, Suzanne P MacFarland, Douglas R Stewart, Sharon J Diskin, Jo Lynne Rokita, Kristina A Cole
Publikováno v:
Neuro-Oncology.
Background To achieve replicative immortality, most cancers develop a telomere maintenance mechanism, such as reactivation of telomerase or alternative lengthening of telomeres (ALT). There are limited data on the prevalence and clinical significance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12ba52aafe9ddcaf6ffd0b92847e1878
https://doi.org/10.1093/neuonc/noac278
https://doi.org/10.1093/neuonc/noac278