Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Anuar Konkashbaev"'
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Abstract We performed a whole-genome scan of genetic variants in splicing regulatory elements (SREs) and evaluated the extent to which natural selection has shaped extant patterns of variation in SREs. We investigated the degree of differentiation of
Externí odkaz:
https://doaj.org/article/12fc5fba7bf3435dbf229f585abdd9e0
Autor:
Vasiliki Thomeas-McEwing, Mitchell A. Psotka, Eric R. Gamazon, Paula Friedman, Anuar Konkashbaev, Michiaki Kubo, Yusuke Nakamura, Mark J. Ratain, Raymond L. Benza, Nancy J. Cox, Mardi I. Gomberg-Maitland, Michael L. Maitland
Publikováno v:
Pharmacogenetics and Genomics. 32:144-151
Prostacyclin infusion for pulmonary arterial hypertension (PAH) is an effective therapy with varied dosing requirements and clinical response. The major aim of this study was to determine new biologically-based predictors of prostacyclin treatment re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40a9c33ad0cf26c8cf9910654e4cb0c1
https://doi.org/10.1097/fpc.0000000000000463
https://doi.org/10.1097/fpc.0000000000000463
Autor:
Peter Straub, Daniel Berner, Julia Sealock, Patrick Evans, Milam A. Brantley, Chiea Chuen Khor, Francesca Pasutto, Eric R. Gamazon, Ursula Schlötzer-Schrehardt, Jibril Hirbo, Ran Tao, Priyanka Pawar, Max Breyer, Karen M. Joos, André Reis, Nancy J. Cox, Anuar Konkashbaev
Exfoliation syndrome (XFS) is an age-related systemic disorder characterized by excessive production and progressive accumulation of abnormal extracellular material, with pathognomonic ocular manifestations. It is the most common cause of secondary g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa62ddad11cb7971f86af9db97078b8e
https://doi.org/10.1101/2020.12.17.423318
https://doi.org/10.1101/2020.12.17.423318
Autor:
Jibril Hirbo, Francesca Pasutto, Eric Gamazon, Patrick Evans, Priyanka Pawar, Daniel Berner, Julia Sealock, Ran Tao, Peter Straub, Anuar Konkashbaev, Max Breyer, Ursula Schlötzer-Schrehardt, Andre Reis, Milam Brantley, Chiea Chuen Khor, Karen Joos, Nancy Cox
Exfoliation syndrome (XFS) is an age-related systemic disorder characterized by excessive production and progressive accumulation of abnormal extracellular material, with pathognomonic ocular manifestations. It is the most common cause of secondary g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d4e3f596dad3490dea5338afa9ae49d
https://doi.org/10.21203/rs.3.rs-53203/v1
https://doi.org/10.21203/rs.3.rs-53203/v1
Autor:
Nancy J. Cox, Mark I. McCarthy, Martijn van de Bunt, Anuar Konkashbaev, Halit Ongen, Farhad Hormozdiari, Eric R. Gamazon, Xiaoquan Wen, Hualin S. Xi, Jie Quan, Manolis Kellis, Eleazar Eskin, Emmanouil T. Dermitzakis, François Aguet, Ayellet V. Segrè, Gad Getz, Eske M. Derks, Kristin G. Ardlie, Dan L. Nicolae
Publikováno v:
Nature Genetics, Vol. 50, No 7 (2018) pp. 956-967
PMC
Nature genetics
PMC
Nature genetics
We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues from the Genotype-Tissue Expression project and genome-wide association study data. About 60% of known trait-associated loci are in linkage disequilibrium with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a81614cea735accd1872429b0e0ca84
http://ora.ox.ac.uk/objects/uuid:
http://ora.ox.ac.uk/objects/uuid:
Autor:
Ronald M. Krauss, Deanna L. Kroetz, Steven E. Brenner, Eric R. Gamazon, Kathleen M. Giacomini, Audrey C. Papp, Marisa W. Medina, Wolfgang Sadee, Anuar Konkashbaev, Deborah A. Nickerson, Courtney E. French, Doug Stryke, Elizabeth Theusch, Katrina Mitchel, Aparna Chhibber, Xiang Qin, Sook Wah Yee, Steven E. Scherer, Ann Wang, Thomas E. Ferrin, Amy Webb, Christine Q. Simmons, Amarjit S. Chaudhry, Scott T. Weiss, Erin G. Schuetz, Alfred L. George, Nancy J. Cox
Publikováno v:
The pharmacogenomics journal, vol 17, iss 2
Chhibber, A; French, CE; Yee, SW; Gamazon, ER; Theusch, E; Qin, X; et al.(2017). Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. Pharmacogenomics Journal, 17(2), 137-145. doi: 10.1038/tpj.2015.93. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/32q7j2fz
The Pharmacogenomics Journal
pharmacogenomics journal, 17(2), 137-145. Nature Publishing Group
Chhibber, A; French, CE; Yee, SW; Gamazon, ER; Theusch, E; Qin, X; et al.(2017). Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. Pharmacogenomics Journal, 17(2), 137-145. doi: 10.1038/tpj.2015.93. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/32q7j2fz
The Pharmacogenomics Journal
pharmacogenomics journal, 17(2), 137-145. Nature Publishing Group
© 2017 The Author(s). Variation in the expression level and activity of genes involved in drug disposition and action ('pharmacogenes') can affect drug response and toxicity, especially when in tissues of pharmacological importance. Previous studies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::111ad07fcece60bbe4d4870869f41376
https://escholarship.org/uc/item/32q7j2fz
https://escholarship.org/uc/item/32q7j2fz
Publikováno v:
Scientific reports, 7(1). Nature Publishing Group
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Scientific Reports
We performed a whole-genome scan of genetic variants in splicing regulatory elements (SREs) and evaluated the extent to which natural selection has shaped extant patterns of variation in SREs. We investigated the degree of differentiation of single n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a9549ef225f80ac63f345eee3804ecd
https://doi.org/10.1038/s41598-017-05744-9
https://doi.org/10.1038/s41598-017-05744-9
Autor:
Mark J. Ratain, Yusuke Nakamura, Nancy J. Cox, Xiao Liu, Anuar Konkashbaev, Hae Kyung Im, Peter H. O'Donnell, Jacqueline Ramírez, Noura Choudhury, Michiaki Kubo, Hua Fang
Publikováno v:
The pharmacogenomics journal
Cytochrome P450 2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6, or CYP2D6), a highly polymorphic drug metabolizing enzyme, is involved in the metabolism of one quarter of the most commonly prescribed medications. Here, we have applied mul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6453e19adae4840a8691a157a057417c
http://europepmc.org/articles/PMC4237721
http://europepmc.org/articles/PMC4237721
Autor:
Amy L. Stark, Wendy B. London, Navin Pinto, Sharon J. Diskin, Nancy J. Cox, M E Dolan, Susan L. Cohn, Hae Kyung Im, Nirav N. Antao, Eric R. Gamazon, Jamie Myers, Anuar Konkashbaev, John M. Maris, Susan M. Ludeman
Publikováno v:
Clinical pharmacology and therapeutics
High-risk neuroblastoma is an aggressive malignancy, with high rates of treatment failure. We evaluated genetic variants associated with in vitro sensitivity to two derivatives of cyclophosphamide for association with clinical response in a separate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::678982b07d2f849ae1809e26f0b8689d
http://europepmc.org/articles/PMC4029857
http://europepmc.org/articles/PMC4029857
Autor:
V. Thomeas-McEwing, Mark J. Ratain, Eric R. Gamazon, Yusuke Nakamura, Raymond L. Benza, M.A. Psotka, T. Hirota, Mardi Gomberg-Maitland, Michiaki Kubo, P.N. Friedman, Nancy J. Cox, Michael L. Maitland, Anuar Konkashbaev
Publikováno v:
The Journal of Heart and Lung Transplantation. 38:S208
Purpose Prostacyclin infusion is an effective therapy for pulmonary arterial hypertension (PAH) but has variable clinical response and dosing requirements. We performed a genome-wide association study (GWAS) to identify biologically-based predictors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c02cb03af7515751918085b8e604f3b
https://doi.org/10.1016/j.healun.2019.01.505
https://doi.org/10.1016/j.healun.2019.01.505