Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Jacob C Ulirsch"'
Autor:
Satish K Nandakumar, Sean K McFarland, Laura M Mateyka, Caleb A Lareau, Jacob C Ulirsch, Leif S Ludwig, Gaurav Agarwal, Jesse M Engreitz, Bartlomiej Przychodzen, Marie McConkey, Glenn S Cowley, John G Doench, Jaroslaw P Maciejewski, Benjamin L Ebert, David E Root, Vijay G Sankaran
Publikováno v:
eLife, Vol 8 (2019)
Genome-wide association studies (GWAS) have identified thousands of variants associated with human diseases and traits. However, the majority of GWAS-implicated variants are in non-coding regions of the genome and require in depth follow-up to identi
Externí odkaz:
https://doaj.org/article/09881636b6d7446194ad63718568b54a
Autor:
Shuping Zhang, Alejandra Macias-Garcia, Jacob C Ulirsch, Jason Velazquez, Vincent L Butty, Stuart S Levine, Vijay G Sankaran, Jane-Jane Chen
Publikováno v:
eLife, Vol 8 (2019)
Iron and heme play central roles in the production of red blood cells, but the underlying mechanisms remain incompletely understood. Heme-regulated eIF2α kinase (HRI) controls translation by phosphorylating eIF2α. Here, we investigate the global im
Externí odkaz:
https://doaj.org/article/9c7a78b9c73a4cf8925af57b0da38a26
Autor:
Laura M Raffield, Jacob C Ulirsch, Rakhi P Naik, Samuel Lessard, Robert E Handsaker, Deepti Jain, Hyun M Kang, Nathan Pankratz, Paul L Auer, Erik L Bao, Joshua D Smith, Leslie A Lange, Ethan M Lange, Yun Li, Timothy A Thornton, Bessie A Young, Goncalo R Abecasis, Cathy C Laurie, Deborah A Nickerson, Steven A McCarroll, Adolfo Correa, James G Wilson, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology & Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups, Guillaume Lettre, Vijay G Sankaran, Alex P Reiner
Publikováno v:
PLoS Genetics, Vol 14, Iss 3, p e1007293 (2018)
Co-inheritance of α-thalassemia has a significant protective effect on the severity of complications of sickle cell disease (SCD), including stroke. However, little information exists on the association and interactions for the common African ancest
Externí odkaz:
https://doaj.org/article/9ca17fd0506d404caeb1d4f46a790b11
Autor:
Jacob C Ulirsch, Jessica N Lacy, Xiuli An, Narla Mohandas, Tarjei S Mikkelsen, Vijay G Sankaran
Publikováno v:
PLoS Genetics, Vol 10, Iss 12, p e1004890 (2014)
Erythropoiesis is one of the best understood examples of cellular differentiation. Morphologically, erythroid differentiation proceeds in a nearly identical fashion between humans and mice, but recent evidence has shown that networks of gene expressi
Externí odkaz:
https://doaj.org/article/62902e3ad7a84ba4a3686b75f8c39554
Autor:
Shubham Khetan, Susan Kales, Romy Kursawe, Alexandria Jillette, Jacob C. Ulirsch, Steven K. Reilly, Duygu Ucar, Ryan Tewhey, Michael L. Stitzel
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Identifying causal variants at GWAS loci is important to understand disease mechanisms. Here the authors use massively parallel reporter assays to identify type 2 diabetes-associated variants that alter cis-regulatory activity, narrowing in on the ca
Externí odkaz:
https://doaj.org/article/7935194eff76489e8d239c6329e3802f
Autor:
John P. Ray, Carl G. de Boer, Charles P. Fulco, Caleb A. Lareau, Masahiro Kanai, Jacob C. Ulirsch, Ryan Tewhey, Leif S. Ludwig, Steven K. Reilly, Drew T. Bergman, Jesse M. Engreitz, Robbyn Issner, Hilary K. Finucane, Eric S. Lander, Aviv Regev, Nir Hacohen
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
While genome-wide association studies have yielded thousands of trait-associated loci, identifying causal variants remains challenging. Here, the authors perform seven genomics assays in various cell types to prioritize genetic variants in the TNFAIP
Externí odkaz:
https://doaj.org/article/1ebe14a757924ee7b684604e682e0db0
Autor:
Leif S. Ludwig, Caleb A. Lareau, Erik L. Bao, Satish K. Nandakumar, Christoph Muus, Jacob C. Ulirsch, Kaitavjeet Chowdhary, Jason D. Buenrostro, Narla Mohandas, Xiuli An, Martin J. Aryee, Aviv Regev, Vijay G. Sankaran
Publikováno v:
Cell Reports, Vol 27, Iss 11, Pp 3228-3240.e7 (2019)
Summary: Human erythropoiesis serves as a paradigm of physiologic cellular differentiation. This process is also of considerable interest for better understanding anemias and identifying new therapies. Here, we apply deep transcriptomic and accessibl
Externí odkaz:
https://doaj.org/article/6398f2df4d4c4128b606c247249494a4
Autor:
Petko Fiziev, Jeremy McRae, Jacob C. Ulirsch, Jacqueline S. Dron, Tobias Hamp, Yanshen Yang, Pierrick Wainschtein, Zijian Ni, Joshua G. Schraiber, Hong Gao, Dylan Cable, Yair Field, Francois Aguet, Marc Fasnacht, Ahmed Metwally, Jeffrey Rogers, Tomas Marques-Bonet, Heidi L. Rehm, Anne O’Donnell-Luria, Amit V. Khera, Kyle Kai-How Farh
Publikováno v:
medRxiv
We examined 454,712 exomes for genes associated with a wide spectrum of complex traits and common diseases and observed that rare, penetrant mutations in genes implicated by genome-wide association studies confer ∼10-fold larger effects than common
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15dd56c1a31aa4f239fad0b89c32d801
https://doi.org/10.1101/2023.05.01.23289356
https://doi.org/10.1101/2023.05.01.23289356
Autor:
Danya J. Martell, Hope E. Merens, Claudia Fiorini, Alexis Caulier, Jacob C. Ulirsch, Robert Ietswaart, Karine Choquet, Giovanna Graziadei, Valentina Brancaleoni, Maria Domenica Cappellini, Caroline Scott, Nigel Roberts, Melanie Proven, Noémi BA Roy, Christian Babbs, Douglas R. Higgs, Vijay G. Sankaran, L. Stirling Churchman
SummaryThe controlled release of promoter-proximal paused RNA polymerase II (Pol II) into productive elongation is a major step in gene regulation. However, functional analysis of Pol II pausing is difficult because factors that regulate pause releas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::800915e53878822adec809d30f93ead3
https://doi.org/10.1101/2023.03.03.23286760
https://doi.org/10.1101/2023.03.03.23286760
Autor:
Leif S. Ludwig, Caleb A. Lareau, Erik L. Bao, Nan Liu, Taiju Utsugisawa, Alex M. Tseng, Samuel A. Myers, Jeffrey M. Verboon, Jacob C. Ulirsch, Wendy Luo, Christoph Muus, Claudia Fiorini, Meagan E. Olive, Christopher M. Vockley, Mathias Munschauer, Abigail Hunter, Hiromi Ogura, Toshiyuki Yamamoto, Hiroko Inada, Shinichiro Nakagawa, Shuichi Ohzono, Vidya Subramanian, Roberto Chiarle, Bertil Glader, Steven A. Carr, Martin J. Aryee, Anshul Kundaje, Stuart H. Orkin, Aviv Regev, Timothy L. McCavit, Hitoshi Kanno, Vijay G. Sankaran
Publikováno v:
Blood
Master regulators, such as the hematopoietic transcription factor (TF) GATA1, play an essential role in orchestrating lineage commitment and differentiation. However, the precise mechanisms by which such TFs regulate transcription through interaction
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef5641e60cf7f369f62d5e4aa732d9b7
https://doi.org/10.1182/blood.2021013753
https://doi.org/10.1182/blood.2021013753