Zobrazeno 1 - 10
of 153
pro vyhledávání: '"Jacob O Kitzman"'
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:
Translational Medicine Communications, Vol 8, Iss 1, Pp 1-8 (2023)
Abstract Purpose Clonal hematopoiesis (CH) describes the aging-associated expansion of mutant hematopoietic cell populations. In various cohorts, CH has been associated with increased morbidity and mortality from non-hematologic diseases such as card
Externí odkaz:
https://doaj.org/article/09b601e593de483ba48725a13164ba92
Autor:
Anthony Scott, Felicia Hernandez, Adam Chamberlin, Cathy Smith, Rachid Karam, Jacob O. Kitzman
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-16 (2022)
Abstract 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 s
Externí odkaz:
https://doaj.org/article/0080f1f8ea404267bac04f1cbc48a869
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, Vol 13, Iss 1, Pp 1-17 (2022)
Lysosomal biogenesis errors often result in diseases including mucolipidosis. Here Zhang and Yang et al. identify TMEM251/GCAF as a mannose-6-phosphate modification regulator that is necessary for correct lysosomal targeting, and classify Mucolipidos
Externí odkaz:
https://doaj.org/article/ae8f3150cfe9400da30750f6e5142f77
Autor:
Md Mesbah Uddin, Ying Zhou, Alexander G. Bick, Bala Bharathi Burugula, Siddhartha Jaiswal, Pinkal Desai, Michael C. Honigberg, Shelly-Ann Love, Ana Barac, Kathleen M. Hayden, JoAnn E. Manson, Eric A. Whitsel, Charles Kooperberg, Pradeep Natarajan, Alexander P. Reiner, Jacob O. Kitzman
Publikováno v:
Immunity & Ageing, Vol 19, Iss 1, Pp 1-10 (2022)
Abstract Background Clonal hematopoiesis of indeterminate potential (CHIP), the age-related expansion of mutant hematopoietic stem cells, confers risk for multiple diseases of aging including hematologic cancer and cardiovascular disease. Whole-exome
Externí odkaz:
https://doaj.org/article/5670ae5d22a24c91b17e0de5cef958b8
Autor:
Ricardo D’Oliveira Albanus, Yasuhiro Kyono, John Hensley, Arushi Varshney, Peter Orchard, Jacob O. Kitzman, Stephen C. J. Parker
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Interaction between transcription factors and chromatin is fundamental for genome organization and regulation. Here, the authors use information theory to measure signatures of organized chromatin resulting from transcription factor-chromatin interac
Externí odkaz:
https://doaj.org/article/50eaff8488d344aaafb37f1d19c687ba
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:
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:
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
