Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Genetics of Common, Complex Coronary Artery Disease.

Musunuru, Kiran; Kathiresan, Sekar.

Cell ; 177(1): 132-145, 2019 03 21.

Artigo em Inglês | MEDLINE | ID: mdl-30901535

2.

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.

Khera, Amit V; Chaffin, Mark; Wade, Kaitlin H; Zahid, Sohail; Brancale, Joseph; Xia, Rui; Distefano, Marina; Senol-Cosar, Ozlem; Haas, Mary E; Bick, Alexander; Aragam, Krishna G; Lander, Eric S; Smith, George Davey; Mason-Suares, Heather; Fornage, Myriam; Lebo, Matthew; Timpson, Nicholas J; Kaplan, Lee M; Kathiresan, Sekar.

Cell ; 177(3): 587-596.e9, 2019 04 18.

Artigo em Inglês | MEDLINE | ID: mdl-31002795

3.

GPR146 Deficiency Protects against Hypercholesterolemia and Atherosclerosis.

Yu, Haojie; Rimbert, Antoine; Palmer, Alice E; Toyohara, Takafumi; Xia, Yulei; Xia, Fang; Ferreira, Leonardo M R; Chen, Zhifen; Chen, Tao; Loaiza, Natalia; Horwitz, Nathaniel Brooks; Kacergis, Michael C; Zhao, Liping; Soukas, Alexander A; Kuivenhoven, Jan Albert; Kathiresan, Sekar; Cowan, Chad A.

Cell ; 179(6): 1276-1288.e14, 2019 11 27.

Artigo em Inglês | MEDLINE | ID: mdl-31778654

4.

A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression.

Gupta, Rajat M; Hadaya, Joseph; Trehan, Aditi; Zekavat, Seyedeh M; Roselli, Carolina; Klarin, Derek; Emdin, Connor A; Hilvering, Catharina R E; Bianchi, Valerio; Mueller, Christian; Khera, Amit V; Ryan, Russell J H; Engreitz, Jesse M; Issner, Robbyn; Shoresh, Noam; Epstein, Charles B; de Laat, Wouter; Brown, Jonathan D; Schnabel, Renate B; Bernstein, Bradley E; Kathiresan, Sekar.

Cell ; 170(3): 522-533.e15, 2017 Jul 27.

Artigo em Inglês | MEDLINE | ID: mdl-28753427

5.

PCSK9 Inhibitors.

Natarajan, Pradeep; Kathiresan, Sekar.

Cell ; 165(5): 1037, 2016 May 19.

Artigo em Inglês | MEDLINE | ID: mdl-27203103

6.

Genetics of human cardiovascular disease.

Kathiresan, Sekar; Srivastava, Deepak.

Cell ; 148(6): 1242-57, 2012 Mar 16.

Artigo em Inglês | MEDLINE | ID: mdl-22424232

7.

In vivo CRISPR base editing of PCSK9 durably lowers cholesterol in primates.

Musunuru, Kiran; Chadwick, Alexandra C; Mizoguchi, Taiji; Garcia, Sara P; DeNizio, Jamie E; Reiss, Caroline W; Wang, Kui; Iyer, Sowmya; Dutta, Chaitali; Clendaniel, Victoria; Amaonye, Michael; Beach, Aaron; Berth, Kathleen; Biswas, Souvik; Braun, Maurine C; Chen, Huei-Mei; Colace, Thomas V; Ganey, John D; Gangopadhyay, Soumyashree A; Garrity, Ryan; Kasiewicz, Lisa N; Lavoie, Jennifer; Madsen, James A; Matsumoto, Yuri; Mazzola, Anne Marie; Nasrullah, Yusuf S; Nneji, Joseph; Ren, Huilan; Sanjeev, Athul; Shay, Madeleine; Stahley, Mary R; Fan, Steven H Y; Tam, Ying K; Gaudelli, Nicole M; Ciaramella, Giuseppe; Stolz, Leslie E; Malyala, Padma; Cheng, Christopher J; Rajeev, Kallanthottathil G; Rohde, Ellen; Bellinger, Andrew M; Kathiresan, Sekar.

Nature ; 593(7859): 429-434, 2021 05.

Artigo em Inglês | MEDLINE | ID: mdl-34012082

8.

A brief history of human disease genetics.

Claussnitzer, Melina; Cho, Judy H; Collins, Rory; Cox, Nancy J; Dermitzakis, Emmanouil T; Hurles, Matthew E; Kathiresan, Sekar; Kenny, Eimear E; Lindgren, Cecilia M; MacArthur, Daniel G; North, Kathryn N; Plon, Sharon E; Rehm, Heidi L; Risch, Neil; Rotimi, Charles N; Shendure, Jay; Soranzo, Nicole; McCarthy, Mark I.

Nature ; 577(7789): 179-189, 2020 01.

Artigo em Inglês | MEDLINE | ID: mdl-31915397

9.

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.

Bao, Erik L; Nandakumar, Satish K; Liao, Xiaotian; Bick, Alexander G; Karjalainen, Juha; Tabaka, Marcin; Gan, Olga I; Havulinna, Aki S; Kiiskinen, Tuomo T J; Lareau, Caleb A; de Lapuente Portilla, Aitzkoa L; Li, Bo; Emdin, Connor; Codd, Veryan; Nelson, Christopher P; Walker, Christopher J; Churchhouse, Claire; de la Chapelle, Albert; Klein, Daryl E; Nilsson, Björn; Wilson, Peter W F; Cho, Kelly; Pyarajan, Saiju; Gaziano, J Michael; Samani, Nilesh J; Regev, Aviv; Palotie, Aarno; Neale, Benjamin M; Dick, John E; Natarajan, Pradeep; O'Donnell, Christopher J; Daly, Mark J; Milyavsky, Michael; Kathiresan, Sekar; Sankaran, Vijay G.

Nature ; 586(7831): 769-775, 2020 10.

Artigo em Inglês | MEDLINE | ID: mdl-33057200

10.

A structural variation reference for medical and population genetics.

Collins, Ryan L; Brand, Harrison; Karczewski, Konrad J; Zhao, Xuefang; Alföldi, Jessica; Francioli, Laurent C; Khera, Amit V; Lowther, Chelsea; Gauthier, Laura D; Wang, Harold; Watts, Nicholas A; Solomonson, Matthew; O'Donnell-Luria, Anne; Baumann, Alexander; Munshi, Ruchi; Walker, Mark; Whelan, Christopher W; Huang, Yongqing; Brookings, Ted; Sharpe, Ted; Stone, Matthew R; Valkanas, Elise; Fu, Jack; Tiao, Grace; Laricchia, Kristen M; Ruano-Rubio, Valentin; Stevens, Christine; Gupta, Namrata; Cusick, Caroline; Margolin, Lauren; Taylor, Kent D; Lin, Henry J; Rich, Stephen S; Post, Wendy S; Chen, Yii-Der Ida; Rotter, Jerome I; Nusbaum, Chad; Philippakis, Anthony; Lander, Eric; Gabriel, Stacey; Neale, Benjamin M; Kathiresan, Sekar; Daly, Mark J; Banks, Eric; MacArthur, Daniel G; Talkowski, Michael E.

Nature ; 581(7809): 444-451, 2020 05.

Artigo em Inglês | MEDLINE | ID: mdl-32461652

11.

Neurocognitive trajectory and proteomic signature of inherited risk for Alzheimer's disease.

Paranjpe, Manish D; Chaffin, Mark; Zahid, Sohail; Ritchie, Scott; Rotter, Jerome I; Rich, Stephen S; Gerszten, Robert; Guo, Xiuqing; Heckbert, Susan; Tracy, Russ; Danesh, John; Lander, Eric S; Inouye, Michael; Kathiresan, Sekar; Butterworth, Adam S; Khera, Amit V.

PLoS Genet ; 18(9): e1010294, 2022 09.

Artigo em Inglês | MEDLINE | ID: mdl-36048760

12.

Efficacy and Safety of an Investigational Single-Course CRISPR Base-Editing Therapy Targeting PCSK9 in Nonhuman Primate and Mouse Models.

Lee, Richard G; Mazzola, Anne Marie; Braun, Maurine C; Platt, Colin; Vafai, Scott B; Kathiresan, Sekar; Rohde, Ellen; Bellinger, Andrew M; Khera, Amit V.

Circulation ; 147(3): 242-253, 2023 01 17.

Artigo em Inglês | MEDLINE | ID: mdl-36314243

13.

Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.

Portilla-Fernandez, Eliana; Klarin, Derek; Hwang, Shih-Jen; Biggs, Mary L; Bis, Joshua C; Weiss, Stefan; Rospleszcz, Susanne; Natarajan, Pradeep; Hoffmann, Udo; Rogers, Ian S; Truong, Quynh A; Völker, Uwe; Dörr, Marcus; Bülow, Robin; Criqui, Michael H; Allison, Matthew; Ganesh, Santhi K; Yao, Jie; Waldenberger, Melanie; Bamberg, Fabian; Rice, Kenneth M; Essers, Jeroen; Kapteijn, Daniek M C; van der Laan, Sander W; de Knegt, Rob J; Ghanbari, Mohsen; Felix, Janine F; Ikram, M Arfan; Kavousi, Maryam; Uitterlinden, Andre G; Roks, Anton J M; Danser, A H Jan; Tsao, Philip S; Damrauer, Scott M; Guo, Xiuqing; Rotter, Jerome I; Psaty, Bruce M; Kathiresan, Sekar; Völzke, Henry; Peters, Annette; Johnson, Craig; Strauch, Konstantin; Meitinger, Thomas; O'Donnell, Christopher J; Dehghan, Abbas.

Hum Mol Genet ; 31(20): 3566-3579, 2022 10 10.

Artigo em Inglês | MEDLINE | ID: mdl-35234888

14.

New Approaches for Targeting PCSK9: Small-Interfering Ribonucleic Acid and Genome Editing.

Oostveen, Reindert F; Khera, Amit V; Kathiresan, Sekar; Stroes, Erik S G; Fitzgerald, Kevin; Harms, Matthew J; Oakes, Benjamin L; Kastelein, John J P.

Arterioscler Thromb Vasc Biol ; 43(7): 1081-1092, 2023 07.

Artigo em Inglês | MEDLINE | ID: mdl-37259866

15.

Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

Emdin, Connor A; Haas, Mary E; Khera, Amit V; Aragam, Krishna; Chaffin, Mark; Klarin, Derek; Hindy, George; Jiang, Lan; Wei, Wei-Qi; Feng, Qiping; Karjalainen, Juha; Havulinna, Aki; Kiiskinen, Tuomo; Bick, Alexander; Ardissino, Diego; Wilson, James G; Schunkert, Heribert; McPherson, Ruth; Watkins, Hugh; Elosua, Roberto; Bown, Matthew J; Samani, Nilesh J; Baber, Usman; Erdmann, Jeanette; Gupta, Namrata; Danesh, John; Saleheen, Danish; Chang, Kyong-Mi; Vujkovic, Marijana; Voight, Ben; Damrauer, Scott; Lynch, Julie; Kaplan, David; Serper, Marina; Tsao, Philip; Program, Million Veteran; Mercader, Josep; Hanis, Craig; Daly, Mark; Denny, Joshua; Gabriel, Stacey; Kathiresan, Sekar.

PLoS Genet ; 17(4): e1009503, 2021 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-33822779

16.

Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics.

Chun, Sung; Imakaev, Maxim; Hui, Daniel; Patsopoulos, Nikolaos A; Neale, Benjamin M; Kathiresan, Sekar; Stitziel, Nathan O; Sunyaev, Shamil R.

Am J Hum Genet ; 107(1): 46-59, 2020 07 02.

Artigo em Inglês | MEDLINE | ID: mdl-32470373

17.

Coronary Disease Association With ADAMTS7 Is Due to Protease Activity.

Mizoguchi, Taiji; MacDonald, Bryan T; Bhandary, Bidur; Popp, Nicholas R; Laprise, Dylan; Arduini, Alessandro; Lai, Daniel; Zhu, Qiuyu Martin; Xing, Yi; Kaushik, Virendar K; Kathiresan, Sekar; Ellinor, Patrick T.

Circ Res ; 129(4): 458-470, 2021 08 06.

Artigo em Inglês | MEDLINE | ID: mdl-34176299

18.

Genetics of coronary artery disease: discovery, biology and clinical translation.

Khera, Amit V; Kathiresan, Sekar.

Nat Rev Genet ; 18(6): 331-344, 2017 06.

Artigo em Inglês | MEDLINE | ID: mdl-28286336

19.

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen, Danish; Natarajan, Pradeep; Armean, Irina M; Zhao, Wei; Rasheed, Asif; Khetarpal, Sumeet A; Won, Hong-Hee; Karczewski, Konrad J; O'Donnell-Luria, Anne H; Samocha, Kaitlin E; Weisburd, Benjamin; Gupta, Namrata; Zaidi, Mozzam; Samuel, Maria; Imran, Atif; Abbas, Shahid; Majeed, Faisal; Ishaq, Madiha; Akhtar, Saba; Trindade, Kevin; Mucksavage, Megan; Qamar, Nadeem; Zaman, Khan Shah; Yaqoob, Zia; Saghir, Tahir; Rizvi, Syed Nadeem Hasan; Memon, Anis; Hayyat Mallick, Nadeem; Ishaq, Mohammad; Rasheed, Syed Zahed; Memon, Fazal-Ur-Rehman; Mahmood, Khalid; Ahmed, Naveeduddin; Do, Ron; Krauss, Ronald M; MacArthur, Daniel G; Gabriel, Stacey; Lander, Eric S; Daly, Mark J; Frossard, Philippe; Danesh, John; Rader, Daniel J; Kathiresan, Sekar.

Nature ; 544(7649): 235-239, 2017 04 12.

Artigo em Inglês | MEDLINE | ID: mdl-28406212

20.

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

Emdin, Connor A; Haas, Mary E; Khera, Amit V; Aragam, Krishna; Chaffin, Mark; Klarin, Derek; Hindy, George; Jiang, Lan; Wei, Wei-Qi; Feng, Qiping; Karjalainen, Juha; Havulinna, Aki; Kiiskinen, Tuomo; Bick, Alexander; Ardissino, Diego; Wilson, James G; Schunkert, Heribert; McPherson, Ruth; Watkins, Hugh; Elosua, Roberto; Bown, Matthew J; Samani, Nilesh J; Baber, Usman; Erdmann, Jeanette; Gupta, Namrata; Danesh, John; Saleheen, Danish; Chang, Kyong-Mi; Vujkovic, Marijana; Voight, Ben; Damrauer, Scott; Lynch, Julie; Kaplan, David; Serper, Marina; Tsao, Philip; Mercader, Josep; Hanis, Craig; Daly, Mark; Denny, Joshua; Gabriel, Stacey; Kathiresan, Sekar.

PLoS Genet ; 16(4): e1008629, 2020 04.

Artigo em Inglês | MEDLINE | ID: mdl-32282858

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