Results 121 to 130 of about 1,051,148 (367)
Genome‐wide association studies of multiple sclerosis [PDF]
Clinical & Translational Immunology, 2018 AbstractLarge‐scale genetic studies of multiple sclerosis have identified over 230 risk effects across the human genome, making it a prototypical common disease with complex genetic architecture. Here, after a brief historical background on the discovery and definition of the disease, we summarise the last fifteen years of genetic discoveries and map ...Chris Cotsapas, Mitja Mitrovic, Mitja Mitrovic +2 moreopenaire +5 more sourcesTOMM20 as a driver of cancer aggressiveness via oxidative phosphorylation, maintenance of a reduced state, and resistance to apoptosis
Molecular Oncology, EarlyView.TOMM20 increases cancer aggressiveness by maintaining a reduced state with increased NADH and NADPH levels, oxidative phosphorylation (OXPHOS), and apoptosis resistance while reducing reactive oxygen species (ROS) levels. Conversely, CRISPR‐Cas9 knockdown of TOMM20 alters these cancer‐aggressive traits.Ranakul Islam, Megan E. Roche, Zhao Lin, Diana Whitaker‐Menezes, Victor Diaz‐Barros, Eurico Serrano, Maria Paula Martinez Cantarin, Nancy J. Philp, Atrayee Basu Mallick, Ubaldo Martinez‐Outschoorn +9 morewiley +1 more sourceGenetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability
eLife, 2018 Uterine leiomyomas (ULs) are benign tumors that are a major burden to women’s health. A genome-wide association study on 15,453 UL cases and 392,628 controls was performed, followed by replication of the genomic risk in six cohorts.Niko Välimäki, Heli Kuisma, Annukka Pasanen, Oskari Heikinheimo, Jari Sjöberg, Ralf Bützow, Nanna Sarvilinna, Hanna-Riikka Heinonen, Jaana Tolvanen, Simona Bramante, Tomas Tanskanen, Juha Auvinen, Outi Uimari, Amjad Alkodsi, Rainer Lehtonen, Eevi Kaasinen, Kimmo Palin, Lauri A Aaltonen +17 moredoaj +1 more sourceGenome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
bioRxiv, 2019 Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype 1 – 3 . To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 ...Haoyu Zhang, T. Ahearn, J. Lecarpentier, D. Barnes, J. Beesley, Xia Jiang, T. O’Mara, Guanghao Qi, Ni Zhao, M. Bolla, A. Dunning, J. Dennis, Qin Wang, Z. Ful, K. Aittomäki, I. Andrulis, H. Anton-Culver, V. Arndt, K. Aronson, B. Arun, P. Auer, J. Azzollini, D. Barrowdale, H. Becher, M. Beckmann, S. Behrens, J. Benítez, M. Bermisheva, K. Białkowska, A. Blanco, C. Blomqvist, N. Bogdanova, S. Bojesen, B. Bonanni, Davide Bondavalli, Å. Borg, H. Brauch, H. Brenner, I. Briceño, A. Broeks, S. Brucker, T. Brüning, B. Burwinkel, S. Buys, H. Byers, T. Caldés, M. Caligo, M. Calvello, D. Campa, J. Castelao, J. Chang-Claude, S. Chanock, M. Christiaens, H. Christiansen, W. Chung, K. Claes, C. Clarke, S. Cornelissen, F. Couch, A. Cox, S. Cross, K. Czene, M. Daly, P. Devilee, O. Díez, S. Domchek, T. Dörk, M. Dwek, D. Eccles, A. Ekici, D. Evans, P. Fasching, J. Figueroa, L. Foretova, F. Fostira, E. Friedman, D. Frost, M. Gago-Domínguez, S. Gapstur, J. Garber, J. García-Saenz, M. Gaudet, S. Gayther, G. Giles, A. Godwin, M. Goldberg, D. Goldgar, A. González-Neira, M. Greene, J. Gronwald, P. Guénel, L. Häberle, E. Hahnen, C. Haiman, Christopher R. Hake, P. Hall, U. Hamann, E. Harkness, B. Heemskerk-Gerritsen, P. Hillemanns, F. Hogervorst, B. Holleczek, A. Hollestelle, M. Hooning, R. Hoover, J. Hopper, A. Howell, H. Huebner, P. Hulick, E. Imyanitov, C. Isaacs, L. Izatt, A. Jager, M. Jakimovska, A. Jakubowska, P. James, R. Janavicius, W. Janni, E. John, Michael E. Jones, A. Jung, R. Kaaks, P. Kapoor, B. Karlan, R. Keeman, Sofia Khan, E. Khusnutdinova, C. Kitahara, Y. Ko, I. Konstantopoulou, L. Koppert, Stella Koutros, V. Kristensen, A. Laenkholm, D. Lambrechts, S. Larsson, P. Laurent-Puig, C. Lázaro, E. Lazarova, F. Lejbkowicz, Goska Leslie, F. Lesueur, A. Lindblom, J. Lissowska, W. Lo, J. Loud, J. Lubiński, A. Lukomska, R. MacInnis, A. Mannermaa, M. Manoochehri, S. Manoukian, S. Margolin, M. Martínez, L. Matricardi, L. McGuffog, C. Mclean, Noura Mebirouk, A. Meindl, U. Menon, Austin Miller, E. Mingazheva, M. Montagna, A. Mulligan, C. Mulot, T. Muranen, K. Nathanson, S. Neuhausen, H. Nevanlinna, P. Neven, W. Newman, F. Nielsen, L. Nikitina-Zake, J. Nodora, K. Offit, E. Oláh, O. Olopade, H. Olsson, N. Orr, L. Papi, J. Papp, T. Park-Simon, M. Parsons, B. Peissel, Ana Peixoto, B. Peshkin, P. Peterlongo, J. Peto, K. Phillips, M. Piedmonte, D. Plaseska‐Karanfilska, Karolina Prajzendanc, R. Prentice, D. Prokofyeva, B. Rack, P. Radice, S. Ramus, Johanna Rantala, M. Rashid, G. Rennert, H. Rennert, H. Risch, A. Romero, M. Rookus, M. Rübner, T. Rüdiger, E. Saloustros, S. Sampson, D. Sandler, E. Sawyer, M. Scheuner, R. Schmutzler, A. Schneeweiss, M. Schoemaker, B. Schöttker, P. Schürmann, L. Senter, Priyanka Sharma, M. Sherman, X. Shu, C. Singer, S. Smichkoska, P. Soucy, M. Southey, J. Spinelli, J. Stone, D. Stoppa-Lyonnet, A. Swerdlow, C. Szabo, R. Tamimi, W. Tapper, Jack A. Taylor, M. Teixeira, M. Terry, M. Thomassen, D. Thull, M. Tischkowitz, A. Toland, R. Tollenaar, I. Tomlinson, Diana Torres, M. Troester, Thérèse Truong, N. Tung, M. Untch, C. Vachon, A. V. D. van den Ouweland, L. van der Kolk, Elke M. van Veen, E. J. van Rensburg, A. Vega, B. Wappenschmidt, C. Weinberg, J. Weitzel, H. Wildiers, R. Winqvist, A. Wolk, Xiaohong R. Yang, D. Yannoukakos, W. Zheng, K. Zorn, M. Zuradelli, R. Milne, P. Kraft, J. Simard, P. Pharoah, K. Michailidou, A. Antoniou, M. Schmidt, G. Chenevix-Trench, D. Easton, M. García-Closas, N. Chatterjee +272 moresemanticscholar +1 more sourceIdentification of Risk Loci for Parkinson Disease in Asians and Comparison of Risk Between Asians and Europeans: A Genome-Wide Association Study.
JAMA Neurology, 2020 Importance
Large-scale genome-wide association studies in the European population have identified 90 risk variants associated with Parkinson disease (PD); however, there are limited studies in the largest population worldwide (ie, Asian).
Objectives
To J. Foo, E. Chew, S. Chung, R. Peng, C. Blauwendraat, M. Nalls, K. Mok, W. Satake, T. Toda, Y. Chao, L. Tan, M. Tandiono, M. Lian, E. Ng, K. Prakash, W. Au, W. Meah, S. Mok, A. A. Annuar, Anne Y. Y. Chan, Ling Chen, Yongping Chen, B. Jeon, Lulu Jiang, Jia Lun Lim, Juei-Jueng Lin, Chunfeng Liu, C. Mao, V. Mok, Z. Pei, H. Shang, Changhe Shi, K. Song, A. Tan, Yih-Ru Wu, Yu-ming Xu, Renshi Xu, Yaping Yan, Jing Yang, Baorong Zhang, W. Koh, Shen-Yang Lim, C. Khor, Jianjun Liu, E. Tan +44 moresemanticscholar +1 more sourceTranscriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM
Molecular Oncology, EarlyView.CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.Julia Latowska‐Łysiak, Żaneta Zarębska, Marcin P. Sajek, Adriana Grabowska, Alessia Buratin, Paweł Głodowicz, Julia O. Misiorek, Konrad Kuczyński, Stefania Bortoluzzi, Marek Żywicki, Jan G. Kosiński, Agnieszka Rybak‐Wolf, Rafał Piestrzeniewicz, Anna M. Barciszewska, Katarzyna Rolle +14 morewiley +1 more sourceGenome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances [PDF]
, 2013 Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption we performed a population based genome-wide association study ...Alexei I. Zhurov, Anja Taanila, Anneli Pouta, Arshed M. Toma, Bakrania, Bayés de Luna, Beate St Pourcain, Bei, Bjarke Feenstra, Clive J. Hoggart, Cole, Cornelis, David M. Evans, Demetris Pillas, Di Cello, Eleftherohorinou, Eleftherohorinou, Elks, Ellen A. Nohr, Frank Geller, Freedman, Fujiwara, Geller, George Davey Smith, Ghazaleh Fatemifar, Golding, Goyal, Gu, Gudbjartsson, Hammarsund, Haraguchi, Hikake, Holmans, Horikoshi, Houlston, Hughes, Inga Prokopenko, Jernvall, Jia, John P. Kemp, Jon H. Tobias, Jussila, Kang, Kere, Kirsi Sipila, Lango Allen, Lavinia Paternoster, Levy, Li, Ligon, Mads Melbye, Marjo-Riitta Jarvelin, Meindl, Mikkola, Momoko Horikoshi, Mustonen, Nicholas J. Timpson, Nohr, Nunes, Nyholt, Paternoster, Pillas, Pispa, Pruim, Raija Lähdesmäki, Sabatti, Sakuraba, Simón-Sánchez, Soranzo, Srivastava, Stein, Stephen Richmond, Susan M. Ring, Taal, Taviaux, Tummers, Vainio, Vaz, Victoria J. Wright, Weedon, Willer, Wise, Yabe, Yang, Zhang +84 morecore +2 more sourcesEnhancer RNA Transcriptome‐Wide Association Study Reveals a Distinctive Class of Pan‐Cancer Susceptibility eRNAs
Advanced ScienceMany cancer risk variants are located within enhancer regions and lack sufficient molecular interpretation. Here, we constructed the first comprehensive atlas of enhancer RNA (eRNA)‐mediated genetic effects from 28 033 RNA sequencing samples across 11 ...Wenyan Chen, Zeyang Wang, Yinuo Wang, Jianxiang Lin, Shuxin Chen, Hui Chen, Xuelian Ma, Xudong Zou, Xing Li, Yangmei Qin, Kewei Xiong, Xixian Ma, Qi Liao, Yunbo Qiao, Lei Li +14 moredoaj +1 more sourceTargeting the MDM2‐MDM4 interaction interface reveals an otherwise therapeutically active wild‐type p53 in colorectal cancer
Molecular Oncology, EarlyView.This study investigates an alternative approach to reactivating the oncosuppressor p53 in cancer. A short peptide targeting the association of the two p53 inhibitors, MDM2 and MDM4, induces an otherwise therapeutically active p53 with unique features that promote cell death and potentially reduce toxicity towards proliferating nontumor cells.Sonia Valentini, Giada Mele, Marika Attili, Maria Rita Assenza, Fulvio Saccoccia, Francesca Sardina, Cinzia Rinaldo, Roberto Massari, Nicola Tirelli, Alfredo Pontecorvi, Fabiola Moretti +10 morewiley +1 more sourceA pathway analysis of genome-wide association study highlights novel type 2 diabetes risk pathways. [PDF]
, 2017 Genome-wide association studies (GWAS) have been widely used to identify common type 2 diabetes (T2D) variants. However, the known variants just explain less than 20% of the overall estimated genetic contribution to T2D.Hu, Yang, Jiang, Guohua, Jiang, Tao, Liu, Yang, Yu, Mei, Zhao, Jing +5 morecore +3 more sources
