Zobrazeno 1 - 10
of 342
pro vyhledávání: '"Eric W Klee"'
Autor:
Numrah Fadra, Laura E Schultz-Rogers, Pritha Chanana, Margot A Cousin, Erica L Macke, Alejandro Ferrer, Filippo Pinto e Vairo, Rory J Olson, Gavin R Oliver, Lindsay A Mulvihill, Garrett Jenkinson, Eric W Klee
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-16 (2024)
Abstract Background X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of the X chromosome in each cell. The preferential inactivation of either t
Externí odkaz:
https://doaj.org/article/7c3188a7d01b477aa61d1fc1deab8a2f
Autor:
Alex F Thompson, Patrick R Blackburn, Noah S Arons, Sarah N Stevens, Dusica Babovic-Vuksanovic, Jane B Lian, Eric W Klee, Jason Stumpff
Publikováno v:
eLife, Vol 11 (2022)
The chromokinesin KIF22 generates forces that contribute to mitotic chromosome congression and alignment. Mutations in the α2 helix of the motor domain of KIF22 have been identified in patients with abnormal skeletal development, and we report the i
Externí odkaz:
https://doaj.org/article/8723f0c9edc84db2b8e75bfe755aa234
Autor:
Jacob R Heldenbrand, Saurabh Baheti, Matthew A Bockol, Travis M Drucker, Steven N Hart, Matthew E Hudson, Ravishankar K Iyer, Michael T Kalmbach, Katherine I Kendig, Eric W Klee, Nathan R Mattson, Eric D Wieben, Mathieu Wiepert, Derek E Wildman, Liudmila S Mainzer
Publikováno v:
BMC Bioinformatics, Vol 20, Iss 1, Pp 1-9 (2019)
Abstract Background Use of the Genome Analysis Toolkit (GATK) continues to be the standard practice in genomic variant calling in both research and the clinic. Recently the toolkit has been rapidly evolving. Significant computational performance impr
Externí odkaz:
https://doaj.org/article/d1ba367575504c22a9097a3dd969475e
Autor:
Saranya Sankaranarayanan, Jagadheshwar Balan, Jesse R Walsh, Yanhong Wu, Sara Minnich, Amy Piazza, Collin Osborne, Gavin R Oliver, Jessica Lesko, Kathy L Bates, Kia Khezeli, Darci R Block, Margaret DiGuardo, Justin Kreuter, John C O’Horo, John Kalantari, Eric W Klee, Mohamed E Salama, Benjamin Kipp, William G Morice, Garrett Jenkinson
Publikováno v:
Journal of Medical Internet Research, Vol 23, Iss 9, p e30157 (2021)
BackgroundCOVID-19 is caused by the SARS-CoV-2 virus and has strikingly heterogeneous clinical manifestations, with most individuals contracting mild disease but a substantial minority experiencing fulminant cardiopulmonary symptoms or death. The cli
Externí odkaz:
https://doaj.org/article/b187600fd8864b3e9abf55f9dffdd50e
Autor:
Gavin R Oliver, Sofia Marcano-Bonilla, Jonathan Quist, Ezequiel J Tolosa, Eriko Iguchi, Amy A Swanson, Nicole L Hoppman, Tanya Schwab, Ashley Sigafoos, Naresh Prodduturi, Jesse S Voss, Shannon M Knight, Jin Zhang, Numrah Fadra, Raul Urrutia, Michael Zimmerman, Jan B Egan, Anthony G Bilyeu, Jin Jen, Ema Veras, Rema'a Al-Safi, Matthew Block, Sarah Kerr, Martin E Fernandez-Zapico, John K Schoolmeester, Eric W Klee
Publikováno v:
PLoS ONE, Vol 16, Iss 5, p e0250518 (2021)
Gestational trophoblastic disease (GTD) is a heterogeneous group of lesions arising from placental tissue. Epithelioid trophoblastic tumor (ETT), derived from chorionic-type trophoblast, is the rarest form of GTD with only approximately 130 cases des
Externí odkaz:
https://doaj.org/article/2bf13702df0b43e381666c65815dbd11
Autor:
Gavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, Noemi Vidal-Folch, W Garrett Jenkinson, Tanya L Schwab, Krutika Gaonkar, Margot A Cousin, Asha Nair, Shubham Basu, Pritha Chanana, Devin Oglesbee, Eric W Klee
Publikováno v:
PLoS ONE, Vol 14, Iss 10, p e0223337 (2019)
BackgroundRNA sequencing has been proposed as a means of increasing diagnostic rates in studies of undiagnosed rare inherited disease. Recent studies have reported diagnostic improvements in the range of 7.5-35% by profiling splicing, gene expression
Externí odkaz:
https://doaj.org/article/6c7e2699270f4cb5b151c5c23ddbbbcc
Autor:
Michael T Zimmermann, Raul Urrutia, Gavin R Oliver, Patrick R Blackburn, Margot A Cousin, Nicole J Bozeck, Eric W Klee
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0170822 (2017)
Variants in the TGFBR2 kinase domain cause several human diseases and can increase propensity for cancer. The widespread application of next generation sequencing within the setting of Individualized Medicine (IM) is increasing the rate at which TGFB
Externí odkaz:
https://doaj.org/article/2cc0b324de6b46fab61155797d36d941
Autor:
Mitesh J Borad, Mia D Champion, Jan B Egan, Winnie S Liang, Rafael Fonseca, Alan H Bryce, Ann E McCullough, Michael T Barrett, Katherine Hunt, Maitray D Patel, Scott W Young, Joseph M Collins, Alvin C Silva, Rachel M Condjella, Matthew Block, Robert R McWilliams, Konstantinos N Lazaridis, Eric W Klee, Keith C Bible, Pamela Harris, Gavin R Oliver, Jaysheel D Bhavsar, Asha A Nair, Sumit Middha, Yan Asmann, Jean-Pierre Kocher, Kimberly Schahl, Benjamin R Kipp, Emily G Barr Fritcher, Angela Baker, Jessica Aldrich, Ahmet Kurdoglu, Tyler Izatt, Alexis Christoforides, Irene Cherni, Sara Nasser, Rebecca Reiman, Lori Phillips, Jackie McDonald, Jonathan Adkins, Stephen D Mastrian, Pamela Placek, Aprill T Watanabe, Janine Lobello, Haiyong Han, Daniel Von Hoff, David W Craig, A Keith Stewart, John D Carpten
Publikováno v:
PLoS Genetics, Vol 10, Iss 2, p e1004135 (2014)
Advanced cholangiocarcinoma continues to harbor a difficult prognosis and therapeutic options have been limited. During the course of a clinical trial of whole genomic sequencing seeking druggable targets, we examined six patients with advanced chola
Externí odkaz:
https://doaj.org/article/72d9a122f58441d9a86d9254c686cd3b
Autor:
Margot A Cousin, Jon O Ebbert, Amanda R Wiinamaki, Mark D Urban, David P Argue, Stephen C Ekker, Eric W Klee
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e90467 (2014)
Cigarette smoking remains the most preventable cause of death and excess health care costs in the United States, and is a leading cause of death among alcoholics. Long-term tobacco abstinence rates are low, and pharmacotherapeutic options are limited
Externí odkaz:
https://doaj.org/article/9ea9dcd226424ab39dfede02d5afa9d8
Autor:
Maria Carla Borroto, Coralie Michaud, Chloé Hudon, Pankaj B. Agrawal, Katherine Agre, Carolyn D. Applegate, Alan H. Beggs, Hans T. Bjornsson, Bert Callewaert, Mei-Jan Chen, Cynthia Curry, Orrin Devinsky, Tracy Dudding-Byth, Kelly Fagan, Candice R. Finnila, Ralitza Gavrilova, Casie A. Genetti, Susan M. Hiatt, Friedhelm Hildebrandt, Monica H. Wojcik, Tjitske Kleefstra, Caroline M. Kolvenbach, Bruce R. Korf, Paul Kruszka, Hong Li, Jessica Litwin, Julien Marcadier, Konrad Platzer, Patrick R. Blackburn, Margot R. F. Reijnders, Heiko Reutter, Ina Schanze, Joseph T. Shieh, Cathy A. Stevens, Zaheer Valivullah, Marie-José van den Boogaard, Eric W. Klee, Philippe M. Campeau
Publikováno v:
Genes, Vol 15, Iss 8, p 1033 (2024)
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well, h
Externí odkaz:
https://doaj.org/article/bd7727c240f64782b2e5faaddbf4ec0a