Výsledky vyhľadávania - "Gloudemans, Michael J."

FAM13A affects body fat distribution and adipocyte function Autor Fathzadeh, Mohsen, Li, Jiehan, Rao, Abhiram, Cook, Naomi, Chennamsetty, Indumathi, Seldin, Marcus, Zhou, Xiang, Sangwung, Panjamaporn, Gloudemans, Michael J., Keller, Mark, Attie, Allan, Yang, Jing, Wabitsch, Martin, Carcamo-Orive, Ivan, Tada, Yuko, Lusis, Aldons J., Shin, Myung Kyun, Molony, Cliona M., McLaughlin, Tracey, Reaven, Gerald, Montgomery, Stephen B., Reilly, Dermot, Quertermous, Thomas, Ingelsson, Erik, Knowles, Joshua W.

“…Genetic variation in the FAM13A (Family with Sequence Similarity 13 Member A) locus has been associated with several glycemic and metabolic traits in…”
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Genetic regulation of gene expression and splicing during a 10-year period of human aging Autor Balliu, Brunilda, Durrant, Matthew, Goede, Olivia de, Abell, Nathan, Li, Xin, Liu, Boxiang, Gloudemans, Michael J., Cook, Naomi L., Smith, Kevin S., Knowles, David A., Pala, Mauro, Cucca, Francesco, Schlessinger, David, Jaiswal, Siddhartha, Sabatti, Chiara, Lind, Lars, Ingelsson, Erik, Montgomery, Stephen B.

“…Background Molecular and cellular changes are intrinsic to aging and age-related diseases. Prior cross-sectional studies have investigated the combined effects…”
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Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes Autor Gloudemans, Michael J., Balliu, Brunilda, Nachun, Daniel, Schnurr, Theresia M., Durrant, Matthew G., Ingelsson, Erik, Wabitsch, Martin, Quertermous, Thomas, Montgomery, Stephen B., Knowles, Joshua W., Carcamo-Orive, Ivan

“…Background Identification of causal genes for polygenic human diseases has been extremely challenging, and our understanding of how physiological and…”
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Abundant associations with gene expression complicate GWAS follow-up Autor Liu, Boxiang, Gloudemans, Michael J., Rao, Abhiram S., Ingelsson, Erik, Montgomery, Stephen B.

“…With increasing cohort size and phenotyping, GWAS have identified more than 70,000 associated variants1. Because as many as 90% of GWAS variants fall within…”
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Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms Autor Liu, Boxiang, Calton, Melissa A., Abell, Nathan S., Benchorin, Gillie, Gloudemans, Michael J., Chen, Ming, Hu, Jane, Li, Xin, Balliu, Brunilda, Bok, Dean, Montgomery, Stephen B., Vollrath, Douglas

“…The retinal pigment epithelium (RPE) serves vital roles in ocular development and retinal homeostasis but has limited representation in large-scale functional…”
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Multiple causal variants underlie genetic associations in humans Autor Abell, Nathan S, DeGorter, Marianne K, Gloudemans, Michael J, Greenwald, Emily, Smith, Kevin S, He, Zihuai, Montgomery, Stephen B

“…Associations between genetic variation and traits are often in noncoding regions with strong linkage disequilibrium (LD), where a single causal variant is…”
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Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer’s and Parkinson’s diseases Autor Corces, M. Ryan, Shcherbina, Anna, Kundu, Soumya, Gloudemans, Michael J., Frésard, Laure, Granja, Jeffrey M., Louie, Bryan H., Eulalio, Tiffany, Shams, Shadi, Bagdatli, S. Tansu, Mumbach, Maxwell R., Liu, Boxiang, Montine, Kathleen S., Greenleaf, William J., Kundaje, Anshul, Montgomery, Stephen B., Chang, Howard Y., Montine, Thomas J.

“…Genome-wide association studies of neurological diseases have identified thousands of variants associated with disease phenotypes. However, most of these…”
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RNA editing underlies genetic risk of common inflammatory diseases Autor Li, Qin, Gloudemans, Michael J., Geisinger, Jonathan M., Fan, Boming, Aguet, François, Sun, Tao, Ramaswami, Gokul, Li, Yang I., Ma, Jin-Biao, Pritchard, Jonathan K., Montgomery, Stephen B., Li, Jin Billy

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RNA editing underlies genetic risk of common inflammatory diseases Autor Li, Qin, Gloudemans, Michael J., Geisinger, Jonathan M., Fan, Boming, Aguet, François, Sun, Tao, Ramaswami, Gokul, Li, Yang I., Ma, Jin-Biao, Pritchard, Jonathan K., Montgomery, Stephen B., Li, Jin Billy

“…A major challenge in human genetics is to identify the molecular mechanisms of trait-associated and disease-associated variants. To achieve this, quantitative…”
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An integrated approach to identify environmental modulators of genetic risk factors for complex traits Autor Balliu, Brunilda, Carcamo-Orive, Ivan, Gloudemans, Michael J, Nachun, Daniel C, Durrant, Matthew G, Gazal, Steven, Park, Chong Y, Knowles, David A, Wabitsch, Martin, Quertermous, Thomas, Knowles, Joshua W, Montgomery, Stephen B

“…Complex traits and diseases can be influenced by both genetics and environment. However, given the large number of environmental stimuli and power challenges…”
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Integration of rare expression outlier-associated variants improves polygenic risk prediction Autor Smail, Craig, Ferraro, Nicole M, Hui, Qin, Durrant, Matthew G, Aguirre, Matthew, Tanigawa, Yosuke, Keever-Keigher, Marissa R, Rao, Abhiram S, Justesen, Johanne M, Li, Xin, Gloudemans, Michael J, Assimes, Themistocles L, Kooperberg, Charles, Reiner, Alexander P, Huang, Jie, O'Donnell, Christopher J, Sun, Yan V, Rivas, Manuel A, Montgomery, Stephen B

“…Polygenic risk scores (PRSs) quantify the contribution of multiple genetic loci to an individual's likelihood of a complex trait or disease. However, existing…”
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Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics Autor Bonder, Marc Jan, Smail, Craig, Gloudemans, Michael J., Frésard, Laure, Jakubosky, David, D’Antonio, Matteo, Li, Xin, Ferraro, Nicole M., Carcamo-Orive, Ivan, Mirauta, Bogdan, Seaton, Daniel D., Cai, Na, Vakili, Dara, Horta, Danilo, Zhao, Chunli, Zastrow, Diane B., Bonner, Devon E., Wheeler, Matthew T., Kilpinen, Helena, Knowles, Joshua W., Smith, Erin N., Frazer, Kelly A., Montgomery, Stephen B., Stegle, Oliver

“…Induced pluripotent stem cells (iPSCs) are an established cellular system to study the impact of genetic variants in derived cell types and developmental…”
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A single-cell CRISPRi platform for characterizing candidate genes relevant to metabolic disorders in human adipocytes Autor Bielczyk-Maczynska, Ewa, Sharma, Disha, Blencowe, Montgomery, Saliba Gustafsson, Peter, Gloudemans, Michael J, Yang, Xia, Carcamo-Orive, Ivan, Wabitsch, Martin, Svensson, Katrin J, Park, Chong Y, Quertermous, Thomas, Knowles, Joshua W, Li, Jiehan

“…CROP-Seq combines gene silencing using CRISPR interference with single-cell RNA sequencing. Here, we applied CROP-Seq to study adipogenesis and adipocyte…”
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Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure Autor Cordero, Pablo, Parikh, Victoria N., Chin, Elizabeth T., Erbilgin, Ayca, Gloudemans, Michael J., Shang, Ching, Huang, Yong, Chang, Alex C., Smith, Kevin S., Dewey, Frederick, Zaleta, Kathia, Morley, Michael, Brandimarto, Jeff, Glazer, Nicole, Waggott, Daryl, Pavlovic, Aleksandra, Zhao, Mingming, Moravec, Christine S., Tang, W. H. Wilson, Skreen, Jamie, Malloy, Christine, Hannenhalli, Sridhar, Li, Hongzhe, Ritter, Scott, Li, Mingyao, Bernstein, Daniel, Connolly, Andrew, Hakonarson, Hakon, Lusis, Aldons J., Margulies, Kenneth B., Depaoli-Roach, Anna A., Montgomery, Stephen B., Wheeler, Matthew T., Cappola, Thomas, Ashley, Euan A.

“…Heart failure is a leading cause of mortality, yet our understanding of the genetic interactions underlying this disease remains incomplete. Here, we harvest…”
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Population- and individual-specific regulatory variation in Sardinia Autor Pala, Mauro, Zappala, Zachary, Marongiu, Mara, Li, Xin, Davis, Joe R, Cusano, Roberto, Crobu, Francesca, Kukurba, Kimberly R, Gloudemans, Michael J, Reinier, Frederic, Berutti, Riccardo, Piras, Maria G, Mulas, Antonella, Zoledziewska, Magdalena, Marongiu, Michele, Sorokin, Elena P, Hess, Gaelen T, Smith, Kevin S, Busonero, Fabio, Maschio, Andrea, Steri, Maristella, Sidore, Carlo, Sanna, Serena, Fiorillo, Edoardo, Bassik, Michael C, Sawcer, Stephen J, Battle, Alexis, Novembre, John, Jones, Chris, Angius, Andrea, Abecasis, Gonçalo R, Schlessinger, David, Cucca, Francesco, Montgomery, Stephen B

“…Francesco Cucca, Stephen Montgomery and colleagues identify regulatory variants that influence gene expression and splicing using whole-genome and…”
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Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genes Autor Gloudemans, Michael J., Balliu, Brunilda, Nachun, Daniel, Durrant, Matthew G., Ingelsson, Erik, Wabitsch, Martin, Quertermous, Thomas, Montgomery, Stephen B., Knowles, Joshua W., Carcamo-Orive, Ivan

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Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases Autor Corces, M Ryan, Shcherbina, Anna, Kundu, Soumya, Gloudemans, Michael J, Frésard, Laure, Granja, Jeffrey M, Louie, Bryan H, Eulalio, Tiffany, Shams, Shadi, Bagdatli, S Tansu, Mumbach, MAXWELL R, Liu, Boxiang, Montine, Kathleen S, Greenleaf, William J, Kundaje, Anshul, Montgomery, Stephen B, Chang, Howard Y, Montine, Thomas J

“…Genome-wide association studies of neurological diseases have identified thousands of variants associated with disease types. most of these variants do not…”
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An integrated approach to identify environmental modulators of genetic risk factors for complex traits Autor Balliu, Brunilda, Ivan Carcamo -Orive, Gloudemans, Michael J, Nachun, Daniel C, Durrant, Matthew G, Gazal, Steven, Park, Chong Y, Knowles, David A, Wabitsch, Martin, Quertermous, Thomas, Knowles, Joshua W, Montgomery, Stephen B

“…Abstract Complex traits and diseases can be influenced by both genetics and environment. However, given the large number of environmental stimuli and power…”
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Single-cell epigenomic identification of inherited risk loci in Alzheimer's and Parkinson's disease Autor M Ryan Corces, Shcherbina, Anna, Kundu, Soumya, Gloudemans, Michael J, Fresard, Laure, Granja, Jeffrey M, Louie, Bryan H, Shams, Shadi, Bagdatli, S Tansu, Maxwell Robert Mumbach, Liu, Bosh, Montine, Kathleen S, Greenleaf, William J, Kundaje, Anshul, Montgomery, Stephen B, Chang, Howard Y, Montine, Thomas J

“…Genome-wide association studies (GWAS) have identified thousands of variants associated with disease phenotypes. However, the majority of these variants do not…”
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Systematic assessment of regulatory effects of human disease variants in pluripotent cells Autor Bonder, Marc Jan, Smail, Craig, Gloudemans, Michael J, Fresard, Laure, Jakubosky, David, D'antonio, Matteo, Li, Xin, Ferraro, Nicole M, Carcamo-Orive, Ivan, Mirauta, Bogdan, Seaton, Daniel D, Cai, Na, Horta, Danilo, Consortium, Hipsci, Consortium, Ipscore, Consortium, Genesips, Phlips Consortium, Smith, Erin N, Frazer, Kelly A, Montgomery, Stephen B, Stegle, Oliver

“…Identifying regulatory genetic effects in pluripotent cells provides important insights into disease variants with potentially transient or developmental…”
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