Results 91 to 100 of about 9,010,468 (307)

Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset. [PDF]

, 2010
Recent studies demonstrated an association of STAT4 variants with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA), indicating that multiple autoimmune diseases share common susceptibility genes. We therefore investigated the influence of
Seiderer, J., Seiderer Julia, Folwaczny, M., Ochsenkühn, Thomas, Fries, C., Beigel, F., Klein, Wolfram, Glas, J., Müller-Myhsok, B., Folwaczny Matthias, Darina Roeske, Matthias Folwaczny, Bertram Müller-Myhsok, Göke, Burkard, Jörg T Epplen, Epplen Jörg T., Diegelmann Julia, Fries Christoph, Melinda Nagy, Pfennig Simone, Brand, Stephan, Nagy, M., Göke, B., Brand Stephan, Nagy, Melinda, Thomas Ochsenkühn, Weidinger Maria, Beigel, Florian, Weidinger, Maria, Ochsenkühn, T., Klein, Wolfgang, Epplen, Jörg T., Julia Diegelmann, Beigel Florian, Müller-Myhsok Bertram, Göke, Burkhard, Fries, Christoph, Folwaczny, Matthias, Pfennig, S., Pfennig, Simone, Peter Lohse, Seiderer, Julia, Roeske, Darina, Glas, Jürgen, Epplen, J., Diegelmann, J., Lohse, P., Christoph Fries, Ochsenkühn Thomas, Müller-Myhsok, Bertram, Weidinger, M., Burkhard Göke, Göke Burkhard, Klein, W., Stephan Brand, Maria Weidinger, Roeske Darina, Brand, S., Jürgen Glas, Klein Wolfram, Roeske, D., Lohse, Peter, Diegelmann, Julia, Nagy Melinda, Simone Pfennig, Wolfram Klein, Glas Jürgen, Florian Beigel, Lohse Peter, Julia Seiderer   +69 more
core   +2 more sources

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Melanoma Genomics

Acta Dermato-Venereologica, 2020
The incidence of cutaneous melanoma continues to increase in pale skinned peoples in Europe and elsewhere. Epidemiological studies identified genetically determined phenotypes such as pale skin, freckles and red hair, and sunburn as risk factors for this
Julia Newton-Bishop, D. Timothy Bishop, Mark Harland   +2 more
doaj   +1 more source

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

Nature Genetics, 2018
The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely unknown.
Lang Wu, Wei Shi, J. Long, Xing-Yi Guo, K. Michailidou, J. Beesley, M. Bolla, X. Shu, Ying-Chang Lu, Q. Cai, F. Al-Ejeh, E. Rozali, Qin Wang, J. Dennis, Bing-Shan Li, Chen-Jie Zeng, Helian Feng, Alexander Gusev, R. Barfield, I. Andrulis, H. Anton-Culver, V. Arndt, K. Aronson, P. Auer, Myrto Barrdahl, C. Baynes, M. Beckmann, J. Benítez, M. Bermisheva, C. Blomqvist, N. Bogdanova, S. Bojesen, H. Brauch, H. Brenner, L. Brinton, P. Broberg, S. Brucker, B. Burwinkel, T. Caldés, F. Canzian, B. Carter, J. Castelao, J. Chang-Claude, Xiao-Qing Chen, T. Cheng, H. Christiansen, C. Clarke, M. Collée, S. Cornelissen, F. Couch, D. Cox, A. Cox, S. Cross, J. Cunningham, K. Czene, M. Daly, P. Devilee, K. Doheny, T. Dörk, I. dos-Santos-Silva, M. Dumont, M. Dwek, D. Eccles, U. Eilber, A. Eliassen, C. Engel, M. Eriksson, L. Fachal, P. Fasching, J. Figueroa, D. Flesch-Janys, O. Fletcher, H. Flyger, L. Fritschi, M. Gabrielson, M. Gago-Domínguez, S. Gapstur, M. García-Closas, M. Gaudet, M. Ghoussaini, G. Giles, M. Goldberg, D. Goldgar, A. González-Neira, P. Guénel, E. Hahnen, C. Haiman, N. Håkansson, P. Hall, Emily J. Hallberg, U. Hamann, P. Harrington, A. Hein, B. Hicks, P. Hillemanns, A. Hollestelle, R. Hoover, J. Hopper, Guanmengqian Huang, K. Humphreys, D. Hunter, A. Jakubowska, W. Janni, E. John, N. Johnson, K. Jones, Michael E. Jones, A. Jung, R. Kaaks, M. Kerin, E. Khusnutdinova, V. Kosma, V. Kristensen, D. Lambrechts, L. Le Marchand, J. Li, S. Lindström, J. Lissowska, Wing-Yee Lo, S. Loibl, J. Lubiński, C. Luccarini, M. Lux, R. MacInnis, T. Maishman, I. M. Kostovska, A. Mannermaa, J. Manson, S. Margolin, D. Mavroudis, H. Meijers-Heijboer, A. Meindl, U. Menon, Jeffery M. Meyer, A. Mulligan, S. Neuhausen, H. Nevanlinna, P. Neven, S. F. Nielsen, B. Nordestgaard, O. Olopade, J. Olson, H. Olsson, P. Peterlongo, J. Peto, D. Plaseska-Karanfilska, R. Prentice, N. Presneau, K. Pylkäs, B. Rack, P. Radice, N. Rahman, G. Rennert, H. Rennert, V. Rhenius, A. Romero, Jane M. Romm, A. Rudolph, E. Saloustros, D. Sandler, E. Sawyer, M. Schmidt, R. Schmutzler, A. Schneeweiss, R. Scott, Christopher G. Scott, S. Seal, M. Shah, M. Shrubsole, A. Smeets, M. Southey, J. Spinelli, J. Stone, H. Surowy, A. Swerdlow, R. Tamimi, W. Tapper, Jack A. Taylor, M. Terry, D. Tessier, Abigail S. Thomas, K. Thöne, R. Tollenaar, Diana Torres, T. Truong, M. Untch, C. Vachon, D. V. Van Den Berg, D. Vincent, Q. Waisfisz, C. Weinberg, Camilla Wendt, A. Whittemore, H. Wildiers, W. Willett, R. Winqvist, A. Wolk, L. Xia, Xiao-Hong R. Yang, A. Ziogas, E. Ziv, A. Dunning, P. Pharoah, J. Simard, R. Milne, S. Edwards, P. Kraft, D. Easton, G. Chenevix-Trench, Wei Zheng   +209 more
semanticscholar   +1 more source

Partial depletion of plasminogen activator inhibitor‐1 decreases subcutaneous fat cell hypertrophy and liver cholesterol in high‐fat‐fed female mice

FEBS Letters, EarlyView.
Obesity raises blood levels of PAI‐1, a protein linked to metabolic dysfunction‐associated steatotic liver disease in people with obesity. In female mice fed a high‐fat diet, partially lowering PAI‐1 led to smaller subcutaneous fat cells and lower liver cholesterol, without changing body weight or insulin sensitivity.
Claudia E. Ramirez Bustamante, Robert Sharp, Pradip K. Saha, Elizabeth S. Anaya, Elizabeth L. Lieu, Evelyn L. de Groot, Pooja Patel, Mi Jeong Heo, Aaron R. Cox, Kang Ho Kim, Sean M. Hartig   +10 more
wiley   +1 more source

TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres. [PDF]

, 2011
Shorter telomeres have been associated with increased risk of malignancy, including colorectal cancer (CRC). Telomere length is heritable and may be an intermediate phenotype linked to genetic susceptibility to ...
Tomlinson, IP, A M Jones, Beggs, A. D., Jones, A. M., M Walker, Jones, A.M., Dunlop, MG, Beggs, A.D., Tenesa, A., A D Beggs, Kerr, D, A Zauber, A Tenesa, Hodgson, S. V., Walker, M., M Bertagnolli, R Midgley, Carvajal-Carmona, L, Dunlop, Malcolm, Tenesa, Albert, Tenesa, A, Kerr, D., Jones, AM, Beggs, AD, M G Dunlop, Jones, A M, Tomlinson, IPM, Carvajal-Carmona, L., Campbell, H.; id_orcid, Tomlinson, I P M, S Ballereau, Tomlinson, I. P. M., Zauber, A., S V Hodgson, Campbell, H, H Campbell, Farrington, S., Hodgson, SV, Ballereau, S., Campbell, H., Walker, M, S Farrington, I P M Tomlinson, Dunlop, M G, K Howarth, Farrington, S.; id_orcid, Howarth, K., Ballereau, S, Hodgson, S.V., Bertagnolli, M., Tomlinson, I.P., Beggs, A D; id_orcid, Midgley, R., D Kerr, Bertagnolli, M, L Carvajal-Carmona, Hodgson, S V, Dunlop, M. G., Midgley, R, Zauber, A, Howarth, K, Farrington, S   +61 more
core   +1 more source

Translophagy—A potential link between autophagy impairment and translational errors

FEBS Letters, EarlyView.
Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk, Gailing Ma, Robin Antrobus, Diego Manni, Marco Trevisan‐Herraz, Mustafa Khwaja, Max Brown, Gavin D. Richardson, Masaaki Komatsu, Daniel Erskine, Viktor I. Korolchuk, Tetsushi Kataura   +11 more
wiley   +1 more source

Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis

Annals of the Rheumatic Diseases, 2017
Objectives Systemic sclerosis (SSc) is an autoimmune disease characterised by skin and systemic fibrosis culminating in organ damage. Previous genetic studies including genome-wide association studies (GWAS) have identified 12 susceptibility loci ...
C. Terao, T. Kawaguchi, P. Dieudé, J. Varga, M. Kuwana, M. Hudson, Y. Kawaguchi, M. Matucci-Cerinic, K. Ohmura, G. Riemekasten, A. Kawasaki, P. Airó, T. Horita, A. Oka, E. Hachulla, H. Yoshifuji, P. Caramaschi, N. Hunzelmann, M. Baron, T. Atsumi, P. Hassoun, Takeshi Torii, Meiko Takahashi, Y. Tabara, Masakazu Shimizu, A. Tochimoto, N. Ayuzawa, H. Yanagida, H. Furukawa, S. Tohma, M. Hasegawa, M. Fujimoto, O. Ishikawa, Toshiyuki Yamamoto, D. Goto, Y. Asano, M. Jinnin, H. Endo, Hiroki Takahashi, K. Takehara, S. Sato, H. Ihn, S. Raychaudhuri, K. Liao, P. Gregersen, N. Tsuchiya, V. Riccieri, I. Melchers, G. Valentini, A. Cauvet, M. Martinez, T. Mimori, F. Matsuda, Y. Allanore   +53 more
semanticscholar   +1 more source

Functional comparison of EncB and EncC cargo proteins in iron storage within the Myxococcus xanthus encapsulin

FEBS Letters, EarlyView.
Encapsulins are protein nanocompartments that play an important role in iron storage. In the Myxococcus xanthus encapsulin system, two cargo proteins called EncB and EncC contribute to iron mineralization. Here, we show that EncB and EncC generate iron‐containing minerals with distinct chemical compositions, suggesting that the composition of stored ...
Harry B. McDowell, Thomas Walther, Egbert Hoiczyk   +2 more
wiley   +1 more source

A genome-wide association search for type 2 diabetes genes in African Americans. [PDF]

, 2012
African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity.
Kumari, Meena, Seedorf, Udo, Sladek, Rob, Wu, Guanming, Rocheleau, Ghislain, McCarroll, Steve A, Bostrom, Meredith A, Pedersen, Oluf, Sanna, Serena, Marmot, Michael, McCarthy, Mark I, Amin, Najaf, van Dijk, Ko Willems, Divers, Jasmin, Hicks, Andrew A, Yarnell, John W G, Pearson, Daniel, Langefeld, Carl D, Dedoussis, George V, Elliott, Paul, Kao, Wen H L, Owen, Katharine R, Kaprio, Jaakko, Cavalcanti-Proença, Christine, Cooper, Matthew N, van Haeften, Timon W, Navarro, Pau, Strassburger, Klaus, Hammond, Naomi, Qi, Lu, McCulloch, Laura J, Uitterlinden, André G, Groves, Christopher J, Tönjes, Anke, Barroso, Inês, Palmer, Nicholette D, Kyvik, Kirsten Ohm, Waeber, Gérard, Boehm, Bernhard O, Loos, Ruth J F, Sijbrands, Eric, Bochud, Murielle, Boerwinkle, Eric, Bowden, Donald W, Lind, Lars, Le Bacquer, Olivier, Kong, Augustine, Mooser, Vincent, Timpson, Nicholas J, Pakyz, Ruth, Meisinger, Christa, Hartikainen, Anna-Liisa, Jarvelin, Marjo-Riitta, Wichmann, H-Erich, Ardlie, Kristin, Klopp, Norman, Goel, Anuj, Wright, Alan F, Franzosi, Maria Grazia, de Geus, Eco J C, Hallmans, Göran, Pramstaller, Peter Paul, Raychaudhuri, Soumya, Syvänen, Ann-Christine, Cauchi, Stephane, Salomaa, Veikko, Han, Xijing, Zethelius, Björn, Collins, Francis S, Blagieva, Roza, Hillman, David R, Ingelsson, Erik, Singleton, Andrew, Williams, Gordon H, Fischer-Rosinsky, Antje, Zhao, Jing Hua, Sethupathy, Praveen, Pattou, François, Lajunen, Taina, Serrano-Ríos, Manuel, Walker, Mark, Zillikens, M Carola, Borecki, Ingrid B, Rotimi, Charles N, Doney, Alex S F, Shields, Beverley, Melzer, David, Vitart, Veronique, Elliott, Katherine S, Uda, Manuela, McAteer, Jarred B, Scuteri, Angelo, Isomaa, Bo, Prokopenko, Inga, Rice, Kenneth, Bergmann, Sven, Hofmann, Oliver M, Lu, Lingyi, Dupuis, Josée, Pfeiffer, Andreas F H, Hunter, David J, Sparsø, Thomas, Mukherjee, Sutapa, Sladek, Robert, Uitterlinden, Andre, Martínez-Larrad, María Teresa, Morris, Andrew P, Crisponi, Laura, Chines, Peter S, Morris, Andrew D, Hitman, Graham A, Henneman, Peter, Silveira, Angela, Rotter, Jerome I, Visvikis-Siest, Sophie, Welch, Ryan P, Böttcher, Yvonne, Thorand, Barbara, Pedersen, Nancy L, Sale, Michele M, Lewis, Joshua P, Brunner, Eric, Forouhi, Nita G, Knight, Beatrice, Wilson, James F, Adeyemo, Adebowale, Li, Yun, Palmer, Lyle J, Grarup, Niels, McCarroll, Steven A, Shields, Beverley M, Gyllensten, Ulf, van Dam, Rob M, Chen, Yii-Der Ida, Potter, Simon C, Crawford, Gabe, Dehghan, Abbas, Ferreira, Teresa, Goodarzi, Mark O, Perola, Markus, Ruokonen, Aimo, Hercberg, Serge, Kesaniemi, Y Antero, Witteman, Jaqueline C M, Delplanque, Jerome, Shuldiner, Alan R, Rayner, Nigel W, Waterworth, Dawn M, Sampson, Michael J, Polasek, Ozren, Koskinen, Seppo, van Herpt, Thijs, Charpentier, Guillaume, Graessler, Jürgen, Posthuma, Danielle, Borch-Johnsen, Knut, Wild, Sarah H, Deloukas, Panos, Jackson, Anne U, Randall, Joshua, Grundy, Scott, Stumvoll, Michael, Karpe, Fredrik, Hofman, Albert, Li, Man, Oostra, Ben A, Schlessinger, David, Illig, Thomas, Meitinger, Thomas, Cooke, Jessica N, Coin, Lachlan J M, Franks, Paul W, Laakso, Markku, Kanoni, Stavroula, Day, Ian N M, Lathrop, G Mark, Heath, Simon C, Burtt, Noël P, Wheeler, Eleanor, Roh, Bong H, Ariyurek, Yavuz, Altshuler, David, Bornstein, Stefan R, Griffin, Simon, Spector, Timothy D, Mohlke, Karen L, Luan, Jian'an, Stringham, Heather M, Beilby, John P, Walters, G Bragi, Tichet, Jean, Doney, Alex, Swift, Amy J, Stein, Lincoln D, Jørgensen, Torben, Hveem, Kristian, Ebrahim, Shah, Midthjell, Kristian, Spranger, Joachim, Guiducci, Candace, Lieverse, Aloysius, Witteman, Jacqueline, Bumpstead, Suzannah, Ferrara, Assiamira, Kaakinen, Marika, Sigurdsson, Gunnar, Robertson, Neil R, Hu, Frank B, Cornelis, Marilyn, Campbell, Harry, Bouatia-Naji, Nabila, Kivimaki, Mika, Narisu, Narisu, Bonnefond, Amélie, Naitza, Silvia, Langenberg, Claudia, Voight, Benjamin F, Bennett, Amanda J, Hicks, Pamela J, Gwilliam, Rhian, Magnusson, Patrik K E, Ferrucci, Luigi, Psaty, Bruce M, Nilsson, Peter, Ng, Maggie C Y, Sijbrands, Eric J G, Ward, Kim L, Florez, Jose C, Wagner, Peter J, Talbert, Matthew E, Roden, Michael, Swift, Amy, Roccasecca, Rosa Maria, Pouta, Anneli, Lindgren, Cecilia M, Kao, W H Linda, Wareham, Nicholas J, Meneton, Pierre, Shrader, Peter, Wing, Maria R, Zeggini, Eleftheria, Green, Todd, Palmer, Colin N A, Rivadeneira, Fernando, Franklin, Christopher S, Grallert, Harald, Manning, Alisa K, Willemsen, Gonneke, Freedman, Barry I, Zabena, Carina, Daly, Mark J, Rudock, Megan E, Rathmann, Wolfgang, Clarke, Robert, Sun, Qi, Scott, Laura J, Benediktsson, Rafn, Peltonen, Leena, Mangino, Massimo, Scheet, Paul, Boehnke, Michael, Mitchell, Braxton D, Sandhu, Manjinder, Varma, Dhiraj, Boström, Kristina Bengtsson, Thorsteinsdottir, Unnur, Steinthorsdottir, Valgerdur, Pichler, Irene, Hassanali, Neelam, Silander, Kaisa, Shriner, Daniel, Rolandsson, Olov, Lecoeur, Cécile, Zhai, Guangju, Chines, Peter, Egan, Josephine M, Meigs, James B, Rayner, N William, Meyre, David, Johnson, Paul R V, Saxena, Richa, Frayling, Timothy M, Nathan, David M, Pattaro, Cristian, Marre, Michel, Boomsma, Dorret I, Vogelzangs, Nicole, Smith, Nicholas L, Peden, John F, Payne, Felicity, Ganser, Martha, Lyssenko, Valeriya, Bravenboer, Bert, Proença, Christine, Rudan, Igor, Stefansson, Kari, Hattersley, Andrew T, Smith, George Davey, An, S Sandy, Simpson, Laila, Abecasis, Goncalo R, Kovacs, Peter, Vollenweider, Peter, Kraft, Peter, Ben-Shlomo, Yoav, Huth, Cornelia, Frants, Rune, Soranzo, Nicole, Hayward, Caroline, Wijmenga, Cisca, Weedon, Michael N, Schwarz, Peter, Mägi, Reedik, van Vliet-Ostaptchouk, Jana V, Johnson, Toby, Lauritzen, Torsten, Zelenika, Diana, Lawlor, Debbie A, Neville, Matthew J, Syddall, Holly, Willer, Cristen J, Gieger, Christian, Siscovick, David S, Ziegler, Julie T, Watanabe, Richard M, Hester, Jessica M, Walley, Andrew, Hottenga, Jouke Jan, Penninx, Brenda W J H, Hui, Jennie, Herder, Christian, Kuusisto, Johanna, Bonnycastle, Lori L, Thorleifsson, Gudmar, McDonough, Caitrin W, An, Ping, Mahley, Robert, Barter, Philip, Hide, Winston A, Elliott, Amanda, Sharp, Stephen J, Watkins, Hugh, Pankow, James S, Buchanan, Thomas A, Valle, Timo T, Segrè, Ayellet V, O'Connell, Jeffrey, Couper, David J, Hung, Joe, Bergman, Richard N, Fedson, Annette C, Morken, Mario A, Balkau, Beverley, McPherson, Ruth, Cao, Antonio, Tanaka, Toshiko, Song, Kijoung, Glazer, Nicole L, Rybin, Denis, Elliott, Amanda L, Orrù, Marco, Hansen, Torben, Dina, Christian, Hingorani, Aroon D, Sovio, Ulla, Aulchenko, Yurii S, Jula, Antti, Perry, John R B, van Hoek, Mandy, Pramstaller, Peter P, Froguel, Philippe, Province, Michael A, Gloyn, Anna L, Platou, Carl, Cooper, Cyrus, Petersen, Ann-Kristin, Sayer, Avan Aihie, Paolisso, Giuseppe, van Duijn, Cornelia M, Hadjadj, Samy, Groop, Leif, Ripatti, Samuli, Galan, Pilar, Erdos, Michael R, Bumpstead, Suzannah J, Tuomilehto, Jaakko, Hamsten, Anders, Fox, Caroline S, Tuomi, Tiinamaija, Sandbaek, Annelli   +389 more
core   +1 more source