Zobrazeno 1 - 10
of 12
pro vyhledávání: '"R. Seth Pinches"'
Autor:
David R. Garcia Castro, Joseph R. Mazuk, Erin M. Heine, Daniel Simpson, R. Seth Pinches, Caroline Lozzi, Kathryn Hoffman, Phillip Morrin, Dylan Mathis, Maria V. Lebedev, Elyse Nissley, Kang Hoo Han, Tyler Farmer, Diane E. Merry, Qiang Tong, Maria Pennuto, Heather L. Montie
Publikováno v:
iScience, Vol 26, Iss 8, Pp 107375- (2023)
Summary: Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease with substantial mitochondrial and metabolic dysfunctions. SBMA is caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). Activating or increasing the NAD
Externí odkaz:
https://doaj.org/article/0ad1fa7b373a453e989aeb3538dcebdf
Autor:
Alanna J. Church, Laura B. Corson, Pei-Chi Kao, Alma Imamovic-Tuco, Deirdre Reidy, Duong Doan, Wenjun Kang, Navin Pinto, Luke Maese, Theodore W. Laetsch, AeRang Kim, Susan I. Colace, Margaret E. Macy, Mark A. Applebaum, Rochelle Bagatell, Amit J. Sabnis, Daniel A. Weiser, Julia L. Glade-Bender, Alan C. Homans, John Hipps, Haley Harris, Danielle Manning, Alyaa Al-Ibraheemi, Yvonne Li, Hersh Gupta, Andrew D. Cherniack, Ying-Chun Lo, Gianna R. Strand, Lobin A. Lee, R. Seth Pinches, Lorena Lazo De La Vega, Maegan V. Harden, Niall J. Lennon, Seong Choi, Hannah Comeau, Marian H. Harris, Suzanne J. Forrest, Catherine M. Clinton, Brian D. Crompton, Junne Kamihara, Laura E. MacConaill, Samuel L. Volchenboum, Neal I. Lindeman, Eliezer Van Allen, Steven G. DuBois, Wendy B. London, Katherine A. Janeway
Publikováno v:
Nature Medicine. 28:1581-1589
To evaluate the clinical impact of molecular tumor profiling (MTP) with targeted sequencing panel tests, pediatric patients with extracranial solid tumors were enrolled in a prospective observational cohort study at 12 institutions. In the 345-patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75b332c2f85a30c85057cb884374062
https://doi.org/10.1038/s41591-022-01856-6
https://doi.org/10.1038/s41591-022-01856-6
Autor:
Abigail Ward, Katherine A. Janeway, Junne Kamihara, Kris Ann P. Schultz, Catherine Clinton, Jonathan A. Nowak, Elizabeth Mullen, Steven G. DuBois, Deirdre Reidy, Sara O. Vargas, David S. Shulman, William D. Foulkes, Dinesh Rakheja, Micheál Breen, Vera A. Paulson, Alanna J. Church, Michelle Schoettler, Jaclyn Schienda, Theodore W. Laetsch, Paul A. Meyers, Daniel A. Weiser, R. Seth Pinches
Publikováno v:
Modern Pathology. 33:1910-1921
The spectrum of neoplasms associated with DICER1 variants continues to expand, with the recent addition of primary “DICER1-associated central nervous system sarcoma” (DCS). DCS is a high-grade malignancy predominantly affecting pediatric patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c49130e7580cf1a50634a16be5663045
https://doi.org/10.1038/s41379-020-0516-1
https://doi.org/10.1038/s41379-020-0516-1
Autor:
R. Seth Pinches, Samantha Cano, Sanda Alexandrescu, Katherine A. Janeway, Alyaa Al-Ibraheemi, Alanna J. Church, Tamara Restrepo, Juan Putra, Va Lip, Sekhar Duraisamy, Harrison Tsai, Marian H. Harris
Publikováno v:
The Journal of molecular diagnostics : JMD. 23(10)
Alterations in the BCOR gene, including internal tandem duplications (ITDs) of exon 15 have emerged as important oncogenic changes that define several diagnostic entities. In pediatric cancers, BCOR ITDs have recurrently been described in clear cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f663018922f1e1a37e54cb0543205e7c
https://pubmed.ncbi.nlm.nih.gov/34325058
https://pubmed.ncbi.nlm.nih.gov/34325058
Autor:
Anne Piche-Schulman, Sanda Alexandrescu, Alanna J. Church, Kristen Gill, Alyaa Al-Ibraheemi, Raja Shaikh, Rosemarie Tavares Proulx, R. Seth Pinches, Christopher B. Weldon, Sara O. Vargas, Monica Hollowell, Andrew L. Hong, Antonio R. Perez-Atayde, Suzanne J. Forrest, Catherine Clinton, Gianna R. Strand, Abigail Ward, Marian H. Harris, Brian D. Crompton, Allison F. O'Neill, Stephanie C. Meyer, Tamara Restrepo, Katherine A. Janeway, Hillary Detert
Publikováno v:
Pediatric Blood & Cancer. 67
Introduction Tissue from pediatric solid tumors is in high demand for use in high-impact research studies, making the allocation of tissue from an anatomic pathology laboratory challenging. We designed, implemented, and assessed an interdepartmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae17acf6deaa39d4fc0128fa48708e52
https://doi.org/10.1002/pbc.28326
https://doi.org/10.1002/pbc.28326
Autor:
Junne, Kamihara, Vera, Paulson, Micheál A, Breen, Theodore W, Laetsch, Dinesh, Rakheja, David S, Shulman, Michelle L, Schoettler, Catherine M, Clinton, Abigail, Ward, Deirdre, Reidy, R Seth, Pinches, Daniel A, Weiser, Elizabeth A, Mullen, Jaclyn, Schienda, Paul A, Meyers, Steven G, DuBois, Jonathan A, Nowak, William D, Foulkes, Kris Ann P, Schultz, Katherine A, Janeway, Sara O, Vargas, Alanna J, Church
Publikováno v:
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 33(10)
The spectrum of neoplasms associated with DICER1 variants continues to expand, with the recent addition of primary "DICER1-associated central nervous system sarcoma" (DCS). DCS is a high-grade malignancy predominantly affecting pediatric patients. Si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::336298346c09c86e7721ac39bd389209
https://pubmed.ncbi.nlm.nih.gov/32291395
https://pubmed.ncbi.nlm.nih.gov/32291395
Autor:
Abigail Ward, Nicole R. LeBoeuf, Duong Doan, Alyaa Al-Ibraheemi, Patrick J. Leavey, Steven G. DuBois, Catherine Clinton, Susan N. Chi, Natalie B. Collins, Alanna J. Church, Elizabeth Mullen, Suzanne J. Forrest, Juan Putra, R. Seth Pinches, Cigall Kadoch, Katherine A. Janeway
Publikováno v:
Clinical cancer research : an official journal of the American Association for Cancer Research. 26(12)
Purpose:Several aggressive pediatric cancers harbor alterations in SMARCB1, including rhabdoid tumors, epithelioid sarcoma, and chordoma. As tumor profiling has become more routine in clinical care, we investigated the relationship between SMARCB1 ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7255d308fe477732de27c6a84ec326ec
https://pubmed.ncbi.nlm.nih.gov/32122923
https://pubmed.ncbi.nlm.nih.gov/32122923
Autor:
Alyaa Al-Ibraheemi, Monica Hollowell, Anne Piche-Schulman, Marian H. Harris, Alanna J. Church, Abigail Ward, Kristen Gil, Tamara Restrepo, R. Seth Pinches, Jeff Goldsmith, Allison F. O'Neill, Suzanne J. Forrest, Hillary Detert, Gianna R. Strand, Katherine A. Janeway, Stephanie C. Meyer, Christopher B. Weldon, Brian D. Crompton, Catherine Clinton, Sanda Alexandrescu, Rosemarie Tavares-Proulx, Raja Shaikh
Publikováno v:
Cancer Research. 80:A67-A67
Introduction: In pediatric cancer, there is an urgent need for research that can identify and validate new therapeutic modalities for pediatric cancers. Diagnostic biopsy samples remain the ideal tissue samples for research and must be collected from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::401f2ab216da924252117af4a1e41440
https://doi.org/10.1158/1538-7445.pedca19-a67
https://doi.org/10.1158/1538-7445.pedca19-a67
Autor:
Wendy B. London, Luke Maese, Katherine A. Janeway, Theodore W. Laetsch, Steven G. DuBois, Neal I. Lindeman, AeRang Kim, Pei-Chi Kao, Duong Doan, Brian D. Crompton, Navin R. Pinto, Suzanne J. Forrest, R. Seth Pinches, Deirdre Reidy, Laura Corson, Lobin A. Lee, Samuel L. Volchenboum, Mark A. Applebaum, Alanna J. Church, Catherine Clinton, Wenjun Kang, Margaret E. Macy, Laura E. MacConaill, Seong Choi, Susan I. Vear
Publikováno v:
Cancer Research. 80:A28-A28
Background: Gene variants with potential therapeutic significance have been reported in 30-60% of childhood malignancies. The 12-institution Genomic Assessment Informs Novel therapy (GAIN) consortium is conducting the individualized cancer therapy 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4bfaebf7e35f984f63aff22e6b921782
https://doi.org/10.1158/1538-7445.pedca19-a28
https://doi.org/10.1158/1538-7445.pedca19-a28
Autor:
Brian D. Crompton, Daniel A. Weiser, Julia Glade-Bender, Alma Imamovic, Amit J. Sabnis, Catherine Clinton, AeRang Kim, Susan I. Vear, R. Seth Pinches, Katherine A. Janeway, Luke Maese, Alanna J. Church, Rochelle Bagatell, Laura Corson, Margaret E. Macy, Deirdre Reidy, Lobin A. Lee, Mark A. Applebaum, Theodore W. Laetsch, Gianna R. Strand, Navin R. Pinto, Eliezer M. Van Allen, Steven G. DuBois, Neal I. Lindeman
Publikováno v:
Cancer Research. 80:B13-B13
Introduction: Gene fusions are important oncogenic drivers with significant clinical impact in some cancer types. This is particularly true in pediatric cancers that often have low mutational burden and lack other diagnostic markers and therapeutic t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fe7e9d6a278288aaa185501db9c9411
https://doi.org/10.1158/1538-7445.pedca19-b13
https://doi.org/10.1158/1538-7445.pedca19-b13