Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Jacob O Kitzman"'
Autor:
Joe J Harrison, Henrik Almblad, Yasuhiko Irie, Daniel J Wolter, Heather C Eggleston, Trevor E Randall, Jacob O Kitzman, Bethany Stackhouse, Julia C Emerson, Sharon Mcnamara, Tyler J Larsen, Jay Shendure, Lucas R Hoffman, Daniel J Wozniak, Matthew R Parsek
Publikováno v:
PLoS Genetics, Vol 16, Iss 6, p e1008848 (2020)
Pseudomonas aeruginosa colonizes the airways of cystic fibrosis (CF) patients, causing infections that can last for decades. During the course of these infections, P. aeruginosa undergoes a number of genetic adaptations. One such adaptation is the lo
Externí odkaz:
https://doaj.org/article/acbec44d4bbb4dbeb96f2b9bdc39b2fa
Autor:
Hunter R Underhill, Jacob O Kitzman, Sabine Hellwig, Noah C Welker, Riza Daza, Daniel N Baker, Keith M Gligorich, Robert C Rostomily, Mary P Bronner, Jay Shendure
Publikováno v:
PLoS Genetics, Vol 12, Iss 7, p e1006162 (2016)
Malignant tumors shed DNA into the circulation. The transient half-life of circulating tumor DNA (ctDNA) may afford the opportunity to diagnose, monitor recurrence, and evaluate response to therapy solely through a non-invasive blood draw. However, d
Externí odkaz:
https://doaj.org/article/51be2cc80ef6462197e8973b01295358
Publikováno v:
PLoS Pathogens, Vol 10, Iss 3, p e1004002 (2014)
The majority of recently emerging infectious diseases in humans is due to cross-species pathogen transmissions from animals. To establish a productive infection in new host species, viruses must overcome barriers to replication mediated by diverse an
Externí odkaz:
https://doaj.org/article/5b62cfb866064f33b0bd91a2b29ab9fd
Autor:
Cathy Smith, Jacob O. Kitzman
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-22 (2023)
Abstract Background Variants that disrupt mRNA splicing account for a sizable fraction of the pathogenic burden in many genetic disorders, but identifying splice-disruptive variants (SDVs) beyond the essential splice site dinucleotides remains diffic
Externí odkaz:
https://doaj.org/article/d141156059f840e09ed9f38ed2fa5957
Publikováno v:
BMC Genomics, Vol 21, Iss 1, Pp 1-28 (2020)
Abstract Background Multicellular organisms adopt various strategies to tailor gene expression to cellular contexts including the employment of multiple promoters (and the associated transcription start sites (TSSs)) at a single locus that encodes di
Externí odkaz:
https://doaj.org/article/b8e71188e97c4a94be995e53061251c6
Autor:
Peter G. Miller, Geoffrey G. Fell, Brody H. Foy, Allison K. Scherer, Christopher J. Gibson, Adam S. Sperling, Bala B. Burugula, Tetsushi Nakao, Md M. Uddin, Hailey Warren, Lynn Bry, Olga Pozdnyakova, Matthew J. Frigault, Alex G. Bick, Donna Neuberg, John M. Higgins, Michael K. Mansour, Pradeep Natarajan, Annette S. Kim, Jacob O. Kitzman, Benjamin L. Ebert
Publikováno v:
Blood. 140:1993-1997
Two Letters to Blood address the risks of COVID-19 in populations with precursors of hematological disease. In the first article, Miller and colleagues report on whether clonal hematopoiesis of intermediate potential (CHIP) is associated with adverse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbc5f01e34603d8e57272f12ccd2fabc
https://doi.org/10.1182/blood.2022018052
https://doi.org/10.1182/blood.2022018052
Autor:
Cathy Smith, Bala Bharathi Burugula, Ian Dunn, Swaroop Aradhya, Jacob O. Kitzman, Jennifer Lai Yee
Frasier Syndrome (FS) is a rare Mendelian form of nephrotic syndrome caused by variants which disrupt the proper splicing ofWT1. This key transcription factor gene is alternatively spliced at exon 9 to produce two isoforms (“KTS+” and “KTS-”)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6e881f35db3dce31371267a329922ac
https://doi.org/10.1101/2023.03.14.23287117
https://doi.org/10.1101/2023.03.14.23287117
Autor:
Weichao Zhang, Xi Yang, Yingxiang Li, Linchen Yu, Bokai Zhang, Jianchao Zhang, Woo Jung Cho, Varsha Venkatarangan, Liang Chen, Bala Bharathi Burugula, Sarah Bui, Yanzhuang Wang, Cunming Duan, Jacob O. Kitzman, Ming Li
Publikováno v:
Nature Communications. 13
The mannose-6-phosphate (M6P) biosynthetic pathway for lysosome biogenesis has been studied for decades and is considered a well-understood topic. However, whether this pathway is regulated remains an open question. In a genome-wide CRISPR/Cas9 knock
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8cfd6ce225d40144f301d39150894cc
https://doi.org/10.1038/s41467-022-33025-1
https://doi.org/10.1038/s41467-022-33025-1
Autor:
Anthony Scott, Felicia Hernandez, Adam Chamberlin, Cathy Smith, Rachid Karam, Jacob O. Kitzman
Background Lynch syndrome (LS) is a cancer predisposition syndrome affecting more than 1 in every 300 individuals worldwide. Clinical genetic testing for LS can be life-saving but is complicated by the heavy burden of variants of uncertain significan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae6b0cb91963f09b4a91bad03839004
https://doi.org/10.1101/2022.08.08.22278549
https://doi.org/10.1101/2022.08.08.22278549
Autor:
Shefali Banerjee, Cathy Smith, Adam Geballe, Stefan Rothenburg, Jacob O. Kitzman, Greg Brennan
Publikováno v:
Virus evolution, vol 8, iss 2
bioRxiv
bioRxiv
Cross-species spillover events are responsible for many of the pandemics in human history including COVID-19; however, the evolutionary mechanisms that enable these events are poorly understood. We have previously modeled this process using a chimeri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe6aae4c456dd2f063994d71aa2707b0
https://doi.org/10.1093/ve/veac105
https://doi.org/10.1093/ve/veac105