Zobrazeno 1 - 10
of 1 881
pro vyhledávání: '"Iftikhar J"'
Autor:
Elizabeth A. Jasper, Jacklyn N. Hellwege, Joseph H. Breeyear, Brenda Xiao, Gail P. Jarvik, Ian B. Stanaway, Kathleen A. Leppig, Geetha Chittoor, M. Geoffrey Hayes, Ozan Dikilitas, Iftikhar J. Kullo, Ingrid A. Holm, Shefali Setia Verma, Todd L. Edwards, Digna R. Velez Edwards
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Preeclampsia, a pregnancy complication characterized by hypertension after 20 gestational weeks, is a major cause of maternal and neonatal morbidity and mortality. Mechanisms leading to preeclampsia are unclear; however, there is evidence of
Externí odkaz:
https://doaj.org/article/593f321d88b040258ab9f27c654b2a15
Autor:
Babken Asatryan, Brittney Murray, Rafik Tadros, Marina Rieder, Ravi A. Shah, Ghaith Sharaf Dabbagh, Andrew P. Landstrom, Stephan Dobner, Patricia B. Munroe, Christopher M. Haggerty, Argelia Medeiros‐Domingo, Anjali T. Owens, Iftikhar J. Kullo, Christopher Semsarian, Tobias Reichlin, Andreas S. Barth, Dan M. Roden, Cynthia A. James, James S. Ware, C. Anwar A. Chahal
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)
Precision medicine, which among other aspects includes an individual's genomic data in diagnosis and management, has become the standard‐of‐care for Mendelian cardiovascular disease (CVD). However, early identification and management of asymptoma
Externí odkaz:
https://doaj.org/article/ff5b6bf384334df490087617c1fe6fde
Autor:
Jonathan D. Mosley, John P. Shelley, Alyson L. Dickson, Jacy Zanussi, Laura L. Daniel, Neil S. Zheng, Lisa Bastarache, Wei-Qi Wei, Mingjian Shi, Gail P. Jarvik, Elisabeth A. Rosenthal, Atlas Khan, Alborz Sherafati, Iftikhar J. Kullo, Theresa L. Walunas, Joseph Glessner, Hakon Hakonarson, Nancy J. Cox, Dan M. Roden, Stephan G. Frangakis, Brett Vanderwerff, C. Michael Stein, Sara L. Van Driest, Scott C. Borinstein, Xiao-Ou Shu, Matthew Zawistowski, Cecilia P. Chung, Vivian K. Kawai
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
Abstract Polygenic variation unrelated to disease contributes to interindividual variation in baseline white blood cell (WBC) counts, but its clinical significance is uncharacterized. We investigated the clinical consequences of a genetic predisposit
Externí odkaz:
https://doaj.org/article/aac9cb1b2aa64c909fbdd66e307ed326
Autor:
Hana Bangash, Seyedmohammad Saadatagah, Mohammadreza Naderian, Marwan E. Hamed, Lubna Alhalabi, Alborz Sherafati, Joseph Sutton, Omar Elsekaily, Ali Mir, Justin H. Gundelach, Daniel Gibbons, Paul Johnsen, Christina M. Wood-Wentz, Carin Y. Smith, Pedro J. Caraballo, Kent R. Bailey, Iftikhar J. Kullo
Publikováno v:
npj Digital Medicine, Vol 7, Iss 1, Pp 1-9 (2024)
Abstract Severe hypercholesterolemia/possible familial hypercholesterolemia (FH) is relatively common but underdiagnosed and undertreated. We investigated whether implementing clinical decision support (CDS) was associated with lower low-density lipo
Externí odkaz:
https://doaj.org/article/baebf9dbcf8642ef8f3cd6577afaf490
Autor:
Yask Gupta, David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L. Knob, Tze Y. Lim, Gerald B. Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C. Stangl, Andrew Bomback, Rik Westland, Monica Bodria, Maddalena Marasa, Ning Shang, David J. Cohen, Russell J. Crew, William Morello, Pietro Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K. Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, Qiping Feng, Chunhua Weng, Yilu Fang, Iftikhar J. Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R. Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey K. Dube, Ninad S. Chaudhary, Orlando M. Gutiérrez, Suzanne E. Judd, Mary Cushman, Leslie A. Lange, Ethan M. Lange, Daniel L. Bivona, Miguel Verbitsky, Cheryl A. Winkler, Jeffrey B. Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Simoes e Silva, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D. D’Agati, Riccardo Magistroni, Eimear E. Kenny, Ruth J. F. Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S. Paul, Slavé Petrovski, David B. Goldstein, Matthias Kretzler, Rasheed Gbadegesin, Ali G. Gharavi, Krzysztof Kiryluk, Matthew G. Sampson, Martin R. Pollak, Simone Sanna-Cherchi
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-8 (2023)
Abstract African Americans have a significantly higher risk of developing chronic kidney disease, especially focal segmental glomerulosclerosis -, than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play a major role in this di
Externí odkaz:
https://doaj.org/article/9f6233ad88a44f828fd1c0264b712139
Autor:
Kathleen Ferar, Taryn O. Hall, Dana C. Crawford, Robb Rowley, Benjamin A. Satterfield, Rongling Li, Loren Gragert, Elizabeth W. Karlson, Mariza de Andrade, Iftikhar J. Kullo, Catherine A. McCarty, Abel Kho, M. Geoffrey Hayes, Marylyn D. Ritchie, Paul K. Crane, Daniel B. Mirel, Christopher Carlson, John J. Connolly, Hakon Hakonarson, Andrew T. Crenshaw, David Carrell, Yuan Luo, Ozan Dikilitas, Joshua C. Denny, Gail P. Jarvik, David R. Crosslin
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Clostridioides difficile (C. diff.) infection (CDI) is a leading cause of hospital acquired diarrhea in North America and Europe and a major cause of morbidity and mortality. Known risk factors do not fully explain CDI susceptibility, and ge
Externí odkaz:
https://doaj.org/article/458631016886416d88885a8ac733ac36
Autor:
Milton Pividori, Sumei Lu, Binglan Li, Chun Su, Matthew E. Johnson, Wei-Qi Wei, Qiping Feng, Bahram Namjou, Krzysztof Kiryluk, Iftikhar J. Kullo, Yuan Luo, Blair D. Sullivan, Benjamin F. Voight, Carsten Skarke, Marylyn D. Ritchie, Struan F. A. Grant, eMERGE Consortium, Casey S. Greene
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Genes act in concert with each other in specific contexts to perform their functions. Determining how these genes influence complex traits requires a mechanistic understanding of expression regulation across different conditions. It has been
Externí odkaz:
https://doaj.org/article/9662721d345640b697319b4a25963163
Autor:
Zhou Zhou, Xia Tang, Wen Chen, Qianlong Chen, Bo Ye, Angad S. Johar, Iftikhar J. Kullo, Keyue Ding
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100258- (2024)
Summary: Ebstein’s anomaly, a rare congenital heart disease, is distinguished by the failure of embryological delamination of the tricuspid valve leaflets from the underlying primitive right ventricle myocardium. Gaining insight into the genetic ba
Externí odkaz:
https://doaj.org/article/f1cd320f51a440a9b19942ce3542d159
Publikováno v:
Journal of Lipid Research, Vol 64, Iss 12, Pp 100455- (2023)
The complex structure and function of low density lipoprotein receptor (LDLR) makes classification of protein-coding missense variants challenging. Deep generative models, including Evolutionary model of Variant Effect (EVE), Evolutionary Scale Model
Externí odkaz:
https://doaj.org/article/18809565e67d4db19a86416e9be59070
Autor:
Zhou Zhou, Xumei Huang, Xia Tang, Wen Chen, Qianlong Chen, Chaohui Zhang, Yuxin Li, Dachun Zhao, Zhe Zheng, Shengshou Hu, Jikui Wang, Iftikhar J. Kullo, Keyue Ding
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100227- (2023)
Summary: Ebstein’s anomaly is a rare congenital heart disease characterized by tricuspid valve downward displacement and is associated with additional cardiac phenotypes such as left ventricle non-compaction. The genetic basis of Ebstein’s anomal
Externí odkaz:
https://doaj.org/article/36284c9c22af49329b800ae08b44da6f