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16 results on '"Cebola, Ines"'

2. The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits

Author

Abecasis, Gonçalo, Akolkar, Beena, Alexander, Benjamin R., Allred, Nicholette D., Altshuler, David, Below, Jennifer E., Bergman, Richard, Beulens, Joline W.J., Blangero, John, Boehnke, Michael, Bokvist, Krister, Bottinger, Erwin, Boughton, Andrew P., Bowden, Donald, Brosnan, M. Julia, Brown, Christopher, Bruskiewicz, Kenneth, Burtt, Noël P., Carmichael, Mary, Caulkins, Lizz, Cebola, Inês, Chambers, John, Ida Chen, Yii-Der, Cherkas, Andriy, Chu, Audrey Y., Clark, Christopher, Claussnitzer, Melina, Costanzo, Maria C., Cox, Nancy J., Hoed, Marcel den, Dong, Duc, Duby, Marc, Duggirala, Ravindranath, Dupuis, Josée, Elders, Petra J.M., Engreitz, Jesse M., Fauman, Eric, Ferrer, Jorge, Flannick, Jason, Flicek, Paul, Flickinger, Matthew, Florez, Jose C., Fox, Caroline S., Frayling, Timothy M., Frazer, Kelly A., Gaulton, Kyle J., Gilbert, Clint, Gloyn, Anna L., Green, Todd, Hanis, Craig L., Hanson, Robert, Hattersley, Andrew T., Hoang, Quy, Im, Hae Kyung, Iqbal, Sidra, Jacobs, Suzanne B.R., Jang, Dong-Keun, Jordan, Tad, Kamphaus, Tania, Karpe, Fredrik, Keane, Thomas M., Kim, Seung K., Kluge, Alexandria, Koesterer, Ryan, Kudtarkar, Parul, Lage, Kasper, Lange, Leslie A., Lazar, Mitchell, Lehman, Donna, Liu, Ching-Ti, Loos, Ruth J.F., Ma, Ronald Ching-wan, MacDonald, Patrick, Massung, Jeffrey, Maurano, Matthew T., McCarthy, Mark I., McVean, Gil, Meigs, James B., Mercader, Josep M., Miller, Melissa R., Mitchell, Braxton, Mohlke, Karen L., Morabito, Samuel, Morgan, Claire, Mullican, Shannon, Narendra, Sharvari, Ng, Maggie C.Y., Nguyen, Lynette, Palmer, Colin N.A., Parker, Stephen C.J., Parrado, Antonio, Parsa, Afshin, Pawlyk, Aaron C., Pearson, Ewan R., Plump, Andrew, Province, Michael, Quertermous, Thomas, Redline, Susan, Reilly, Dermot F., Ren, Bing, Rich, Stephen S., Richards, J. Brent, Rotter, Jerome I., Ruebenacker, Oliver, Ruetten, Hartmut, Salem, Rany M., Sander, Maike, Sanders, Michael, Sanghera, Dharambir, Scott, Laura J., Sengupta, Sebanti, Siedzik, David, Sim, Xueling, Singh, Preeti, Sladek, Robert, Small, Kerrin, Smith, Philip, Stein, Peter, Spalding, Dylan, Stringham, Heather M., Sun, Ying, Susztak, Katalin, ’t Hart, Leen M., Taliun, Daniel, Taylor, Kent, Thomas, Melissa K., Todd, Jennifer A., Udler, Miriam S., Voight, Benjamin, von Grotthuss, Marcin, Wan, Andre, Welch, Ryan P., Wholley, David, Yuksel, Kaan, Zaghloul, Norann A., Jang, Dongkeun, Moriondo, Annie, Nguyen, Trang, Smadbeck, Patrick, Brandes, MacKenzie, Dornbos, Peter, Huellas-Bruskiewicz, Kenneth C., Ji, Yue, McMahon, Aoife C., Fauman, Eric B., Kamphaus, Tania Nayak, and Abecasis, Gonçalo R.

Published
2023
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3. Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

Author

Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stéphanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe G N, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, MacKenzie Ross, Robert V, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Vonk Noordegraaf, Anton, Waisfisz, Quinten, Walsworth, Anna K, Walter, Robert E, Wharton, John, White, R James, Wilt, Jeffrey, Wort, Stephen J, Yung, Delphine, Lawrie, Allan, Humbert, Marc, Soubrier, Florent, Trégouët, David-Alexandre, Prokopenko, Inga, Kittles, Richard, Gräf, Stefan, Nichols, William C, Trembath, Richard C, Desai, Ankit A, Morrell, Nicholas W, and Wilkins, Martin R

Published
2019
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5. Identification of a transcription factor that modulates ER[alpha]-Dependent Hypothalamic Estrogen Sensing

Author

Fernandes-Freitas, Isabel, primary, Milona, Alexandra, additional, Ramos-Pittol, Jose, additional, Manchishi, Stephen, additional, Rainbow, Kara, additional, Lam, Brian, additional, Tadross, John, additional, Beucher, Anthony, additional, Colledge, William, additional, Cebola, Ines, additional, Murphy, Kevin, additional, Miguel-Aliaga, Irene, additional, Yeo, Giles, additional, Dhillo, Waljit, additional, and Owen, Bryn, additional

Published
2022
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7. Regulation and role of MiR-125b in [beta]-cells

Author

Pizza, Grazia, primary, Cheung, Rebecca, additional, Rolando, Delphine, additional, Nguyen-Tu, Marie-Sophie, additional, Cebola, Ines, additional, Chabosseau, Pauline, additional, Marchetti, Piero, additional, Shapiro, James, additional, Piemonti, Lorenzo, additional, Sakamoto, Kei, additional, Smith, David M, additional, Rutter, Guy A, additional, and Martinez-Sanchez, Aida, additional

Published
2019
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9. De novo variants in population constrained fetal brain enhancers and intellectual disability

Author

De Vas, Matias G, primary, Garstang, Myles G, additional, Joshi, Shweta S, additional, Khan, Tahir N, additional, Atla, Goutham, additional, Parry, David, additional, Moore, David, additional, Cebola, Ines, additional, Zhang, Shuchen, additional, Cui, Wei, additional, Lampe, Anne K, additional, Lam, Wayne W, additional, FitzPatrick, David R, additional, Ferrer, Jorge, additional, Pradeepa, Madapura M, additional, and Atanur, Santosh S, additional

Published
2019
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10. Chromatin 3D Interaction Analysis of the STARD10 Locus Unveils FCHSD2 as a New Regulator of Insulin Secretion

Author

Hu, Ming, primary, Cebola, Ines, additional, Carrat, Gaelle, additional, Jiang, Shuying, additional, Khamis, Amna, additional, Canouil, Mickael, additional, Froguel, Philippe, additional, Schulte, Anke, additional, Solimena, Michele, additional, Ibberson, Mark, additional, Marchetti, Piero, additional, Cardenas-Diaz, Fabian, additional, Gadue, Paul, additional, Alemeida-Souza, Leonardo, additional, McMahon, Harvey, additional, and Rutter, Guy A., additional

Published
2019
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11. MiR-184 expression is regulated by AMPK in pancreatic islets

Author

Martinez-Sanchez, Aida, Nguyen-Tu, Marie Sophie, Cebola, Ines, Yavari, Arash, Marchetti, Piero, Piemonti, Lorenzo, De Koning, Eelco, Shapiro, A. M.James, Johnson, Paul, Sakamoto, Kei, Smith, David M., Leclerc, Isabelle, Ashrafian, Houman, Ferrer, Jorge, Rutter, Guy A., Pathology/molecular and cellular medicine, Hubrecht Institute for Developmental Biology and Stem Cell Research, Martinez-Sanchez, Aida, Nguyen-Tu, Marie-Sophie, Cebola, Ine, Yavari, Arash, Marchetti, Piero, Piemonti, Lorenzo, de Koning, Eelco, Shapiro, A M Jame, Johnson, Paul, Sakamoto, Kei, Smith, David M, Leclerc, Isabelle, Ashrafian, Houman, Ferrer, Jorge, Rutter, Guy A, Medical Research Council (MRC), and Wellcome Trust

Subjects
Life Sciences & Biomedicine - Other Topics, Male, Diabetes Mellitus/genetics, β cell, Mirnas, AMP-Activated Protein Kinases, Biochemistry, Mice, Insulin-Secreting Cells, genetics, AMP-Activated Protein Kinases/genetics, Mice, Knockout, B cell, Sex Characteristics, diabetes, Diabetes, GLUCOSE-METABOLISM, CANCER, β-cell, Glucose, Biotechnology, Molecular Biology, Genetics, miRNAs, Female, Life Sciences & Biomedicine, Glucose/genetics, biotechnology, Biochemistry & Molecular Biology, MODELS, MicroRNAs/biosynthesis, Cell Line, Insulin-Secreting Cells/metabolism, STIMULATED INSULIN-SECRETION, BETA-CELL FUNCTION, Journal Article, Diabetes Mellitus, Animals, Humans, Biology, miRNA, Science & Technology, Energy Metabolism/genetics, Research, 0601 Biochemistry And Cell Biology, Cell Biology, PROTEIN-KINASE, 0606 Physiology, beta cell, MicroRNAs, Gene Expression Regulation, diabete, 1116 Medical Physiology, IDENTITY, Energy Metabolism
Abstract

AMPK is a critical energy sensor and target for widely used antidiabetic drugs. In β cells, elevated glucose concentrations lower AMPK activity, and the ablation of both catalytic subunits [β-cell–specific AMPK double-knockout (βAMPKdKO) mice] impairs insulin secretion in vivo and β-cell identity. MicroRNAs (miRNAs) are small RNAs that silence gene expression that are essential for pancreatic β-cell function and identity and altered in diabetes. Here, we have explored the miRNAs acting downstream of AMPK in mouse and human β cells. We identified 14 down-regulated and 9 up-regulated miRNAs in βAMPKdKO vs. control islets. Gene ontology analysis of targeted transcripts revealed enrichment in pathways important for β-cell function and identity. The most down-regulated miRNA was miR-184 (miR-184-3p), an important regulator of β-cell function and compensatory expansion that is controlled by glucose and reduced in diabetes. We demonstrate that AMPK is a potent regulator and an important mediator of the negative effects of glucose on miR-184 expression. Additionally, we reveal sexual dimorphism in miR-184 expression in mouse and human islets. Collectively, these data demonstrate that glucose-mediated changes in AMPK activity are central for the regulation of miR-184 and other miRNAs in islets and provide a link between energy status and gene expression in β cells.—Martinez-Sanchez, A., Nguyen-Tu, M.-S., Cebola, I., Yavari, A., Marchetti, P., Piemonti, L., de Koning, E., Shapiro, A. M. J., Johnson, P., Sakamoto, K., Smith, D. M., Leclerc, I., Ashrafian, H., Ferrer, J., Rutter, G. A. MiR-184 expression is regulated by AMPK in pancreatic islets.

Published
2017

12. MiR-184 expression is regulated by AMPK in pancreatic islets

Author

Martinez-Sanchez, Aida, Nguyen-Tu, Marie Sophie, Cebola, Ines, Yavari, Arash, Marchetti, Piero, Piemonti, Lorenzo, De Koning, Eelco, Shapiro, A. M.James, Johnson, Paul, Sakamoto, Kei, Smith, David M., Leclerc, Isabelle, Ashrafian, Houman, Ferrer, Jorge, Rutter, Guy A., Martinez-Sanchez, Aida, Nguyen-Tu, Marie Sophie, Cebola, Ines, Yavari, Arash, Marchetti, Piero, Piemonti, Lorenzo, De Koning, Eelco, Shapiro, A. M.James, Johnson, Paul, Sakamoto, Kei, Smith, David M., Leclerc, Isabelle, Ashrafian, Houman, Ferrer, Jorge, and Rutter, Guy A.

Published
2018

13. MiR-184 expression is regulated by AMPK in pancreatic islets

Author

Hubrecht Institute with UMC, Regenerative Medicine and Stem Cells, Martinez-Sanchez, Aida, Nguyen-Tu, Marie Sophie, Cebola, Ines, Yavari, Arash, Marchetti, Piero, Piemonti, Lorenzo, De Koning, Eelco, Shapiro, A. M.James, Johnson, Paul, Sakamoto, Kei, Smith, David M., Leclerc, Isabelle, Ashrafian, Houman, Ferrer, Jorge, Rutter, Guy A., Hubrecht Institute with UMC, Regenerative Medicine and Stem Cells, Martinez-Sanchez, Aida, Nguyen-Tu, Marie Sophie, Cebola, Ines, Yavari, Arash, Marchetti, Piero, Piemonti, Lorenzo, De Koning, Eelco, Shapiro, A. M.James, Johnson, Paul, Sakamoto, Kei, Smith, David M., Leclerc, Isabelle, Ashrafian, Houman, Ferrer, Jorge, and Rutter, Guy A.

Published
2018

14. Glucose regulates miR-184 via AMP-activated protein kinase (AMPK) in pancreatic [beta]-cells

Author

Pizza, Grazia, primary, Nguyen-Tu, Marie-Sophie, additional, Cebola, Ines, additional, Yavari, Arash, additional, Marchetti, Piero, additional, Piemonti, Lorenzo, additional, De, Koning Eelco, additional, Shapiro, AM James, additional, Johnson, Paul, additional, Sakamoto, Kei, additional, Smith, David M, additional, Leclerc, Isabelle, additional, Ashrafian, Houman, additional, Ferrer, Jorge, additional, and Martinez-Sanchez, Aida, additional

Published
2018
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15. MiR-184 expression is regulated by AMPK in pancreatic islets.

Author

Martinez-Sanchez A, Nguyen-Tu MS, Cebola I, Yavari A, Marchetti P, Piemonti L, de Koning E, Shapiro AMJ, Johnson P, Sakamoto K, Smith DM, Leclerc I, Ashrafian H, Ferrer J, and Rutter GA

Subjects
AMP-Activated Protein Kinases genetics, Animals, Cell Line, Diabetes Mellitus genetics, Diabetes Mellitus pathology, Energy Metabolism genetics, Female, Glucose genetics, Glucose metabolism, Humans, Insulin-Secreting Cells pathology, Male, Mice, Mice, Knockout, MicroRNAs genetics, Sex Characteristics, AMP-Activated Protein Kinases metabolism, Diabetes Mellitus metabolism, Gene Expression Regulation, Insulin-Secreting Cells metabolism, MicroRNAs biosynthesis
Abstract

AMPK is a critical energy sensor and target for widely used antidiabetic drugs. In β cells, elevated glucose concentrations lower AMPK activity, and the ablation of both catalytic subunits [β-cell-specific AMPK double-knockout (βAMPKdKO) mice] impairs insulin secretion in vivo and β-cell identity. MicroRNAs (miRNAs) are small RNAs that silence gene expression that are essential for pancreatic β-cell function and identity and altered in diabetes. Here, we have explored the miRNAs acting downstream of AMPK in mouse and human β cells. We identified 14 down-regulated and 9 up-regulated miRNAs in βAMPKdKO vs. control islets. Gene ontology analysis of targeted transcripts revealed enrichment in pathways important for β-cell function and identity. The most down-regulated miRNA was miR-184 (miR-184-3p), an important regulator of β-cell function and compensatory expansion that is controlled by glucose and reduced in diabetes. We demonstrate that AMPK is a potent regulator and an important mediator of the negative effects of glucose on miR-184 expression. Additionally, we reveal sexual dimorphism in miR-184 expression in mouse and human islets. Collectively, these data demonstrate that glucose-mediated changes in AMPK activity are central for the regulation of miR-184 and other miRNAs in islets and provide a link between energy status and gene expression in β cells.-Martinez-Sanchez, A., Nguyen-Tu, M.-S., Cebola, I., Yavari, A., Marchetti, P., Piemonti, L., de Koning, E., Shapiro, A. M. J., Johnson, P., Sakamoto, K., Smith, D. M., Leclerc, I., Ashrafian, H., Ferrer, J., Rutter, G. A. MiR-184 expression is regulated by AMPK in pancreatic islets.

Published
2018
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16. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.

Author

Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A, Ellard S, Ferrer J, and Hattersley AT

Subjects
Chromosomes, Human, Pair 10, Embryonic Stem Cells physiology, Epigenomics methods, Female, Genes, Recessive, Humans, Male, Pancreatic Diseases genetics, Pedigree, Enhancer Elements, Genetic genetics, Mutation, Pancreas abnormalities, Pancreatic Diseases congenital, Transcription Factors genetics
Abstract

The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal regulatory mutations represents a formidable challenge. We used epigenomic annotation in human embryonic stem cell (hESC)-derived pancreatic progenitor cells to guide the interpretation of whole-genome sequences from individuals with isolated pancreatic agenesis. This analysis uncovered six different recessive mutations in a previously uncharacterized ~400-bp sequence located 25 kb downstream of PTF1A (encoding pancreas-specific transcription factor 1a) in ten families with pancreatic agenesis. We show that this region acts as a developmental enhancer of PTF1A and that the mutations abolish enhancer activity. These mutations are the most common cause of isolated pancreatic agenesis. Integrating genome sequencing and epigenomic annotation in a disease-relevant cell type can thus uncover new noncoding elements underlying human development and disease.

Published
2014
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