Results 51 to 60 of about 1,085 (147)
Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways [PDF]
, 2020 Background
The Chr17q12-21.2 region is the strongest and most consistently associated region with asthma susceptibility. The functional genes or single nucleotide polymorphisms (SNPs) are not obvious due to linkage disequilibrium.
Objectives
We sought Bleecker, Eugene R, Busse, William W, Castro, Mario, Christenson, Stephanie A, Denlinger, Loren C, Erzurum, Serpil C, Fahy, John V, Gaston, Benjamin, Hastie, Annette T, Israel, Elliot, Jarjour, Nizar N, Kaminski, Naftali, Levy, Bruce D, Li, Huashi, Li, Xingnan, Meyers, Deborah A, Modena, Brian, Moore, Wendy C, Program, NHLBI Severe Asthma Research, Wenzel, Sally E, Woodruff, Prescott G +20 morecore +1 more sourceSmoking, DNA Methylation, and Lung Function:a Mendelian Randomization Analysis to Investigate Causal Pathways [PDF]
, 2020 Whether smoking-associated DNA methylation has a causal effect on lung function has not been thoroughly evaluated. We first investigated the causal effects of 474 smoking-associated CpGs on forced expiratory volume in 1 s (FEV1) in UK Biobank (n = 321 ...Battram, Thomas, Burrows, Kimberley, Davey Smith, George, Gaunt, Tom R., Guyatt, Anna L., Jamieson, Emily, Korologou-Linden, Roxanna, Munafò, Marcus, Relton, Caroline, Richardson, Tom G., Richmond, Rebecca C., Tilling, Kate, Tobin, Martin D., Wootton, Robyn E. +13 morecore +2 more sourcesAgnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer [PDF]
, 2018 Background Genome-wide association studies (GWAS) identify associations of individual single-nucleotide polymorphisms (SNPs) with cancer risk but usually only explain a fraction of the inherited variability.Albanes, Demetrius, Amundadottir, Laufey T, Andreotti, Gabriella, Arslan, Alan A, Babic, Ana, Bamlet, William R, Beane-Freeman, Laura, Berndt, Sonja I, Borgida, Ayelet, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brais, Lauren, Brennan, Paul, Brennan, Paul, Bueno-de-Mesquita, Bas, Buring, Julie, Canzian, Federico, Chaffee, Kari G, Chanock, Stephen, Childs, Erica J, Cleary, Sean, Collins, Irene, Cotterchio, Michelle, Duell, Eric J, Foretova, Lenka, Fuchs, Charles, Gallinger, Steven, Giles, Graham G, Giovannucci, Edward, Goggins, Michael, Goggins, Michael, Goodman, Gary E, Goodman, Phyllis J, Hackert, Thilo, Haiman, Christopher, Hartge, Patricia, Hasan, Manal, Helzlsouer, Kathy J, Herman, Joseph, Holcatova, Ivana, Holly, Elizabeth A, Hoover, Robert, Hung, Rayjean J, Hung, Rayjean J, Hyland, Paula L, Jacobs, Eric J, Janout, Vladimir, Klein, Alison P, Klein, Eric A, Kooperberg, Charles, Kraft, Peter, Kurtz, Robert C, Kurtz, Robert C, Laheru, Daniel, Lee, I-Min, LeMarchand, Loic, Li, Donghui, Lu, Lingeng, M Gaziano, J Michael, Malats, Núria, Malats, Núria, Mannisto, Satu, Milne, Roger L, Mocci, Evelina, Neale, Rachel E, Oberg, Ann L, Olson, Sara H, Orlow, Irene, PanScan and PanC4 consortia, Patel, Alpa V, Peters, Ulrike, Petersen, Gloria M, Porta, Miquel, Real, Francisco X, Risch, Harvey A, Rothman, Nathaniel, Scelo, Ghislaine, Sesso, Howard D, Severi, Gianluca, Shu, Xiao O, Silverman, Debra, Stolzenberg-Solomon, Rachael Z, Strobel, Oliver, Sund, Malin, Thornquist, Mark D, Tobias, Geoffrey S, Van Den Eeden, Stephen K, Visvanathan, Kala, Wactawski-Wende, Jean, Walsh, Naomi, Wang, Zhaoming, Wareham, Nick, Weiderpass, Elisabete, Wentzensen, Nicolas, Wheeler, William, White, Emily, Wolpin, Brian M, Yang, Qi, Yu, Herbert, Yu, Kai, Zeleniuch-Jacquotte, Anne, Zhang, Han, Zhang, Mingfeng, Zheng, Wei +103 morecore +4 more sourcesA GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO [PDF]
, 2016 ©2016 Gun-Hee Lee et al. Originally published in Journal of Cell Biology.Fujihara, Yoshitaka, Fujita, Morihisa, Hamada, Hiroshi, Ikawa, Masahito, Kajikawa, Eriko, Kanzawa, Noriyuki, Kinoshita, Taroh, Lee, Gun Hee, Maeda, Yusuke, Murakami, Kei-Ichi, Murakami, Yoshiko, Saito, Kazunobu, Takada, Yoko, Takaoka, Katsuyoshi +13 morecore +1 more sourceA CRISPR-Cas9-engineered mouse model for GPI anchor deficiency mirrors human phenotype and shows hippocampal synaptic dysfunctions [PDF]
, 2020 Pathogenic germline mutations in PIGV lead to glycosylphosphatidylinositol biosynthesis deficiency. Individuals with pathogenic biallelic mutations in genes of the glycosylphosphatidylinositol anchor pathway show cognitive impairments, a motor delay and ...David, F.S., Horn, D., Knaus, A., Kornak, U., Krawitz, P.M., Long, M., Mattei, D., Mundlos, S., Rivalan, M., Robinson, P.N., Rodríguez de los Santos, M., Schmitz, D., Stumpf, A., Timmermann, B., Velasquez, L.M., Vogt, G., Voigt, A., Winter, Y., Wittler, L. +18 morecore +1 more sourceConfirmation of Exome Sequencing Results Using Sanger Sequencing—Considerations in a Low‐Resource Setting
Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.In our African developmental disorder cohort, high confidence variants in the first 64 probands that underwent ES were confirmed using Sanger sequencing. Our study suggests that confirming exome sequencing results with an orthogonal approach like Sanger sequencing is unnecessary in a resource‐limited setting, when robust, context‐informed quality ...Nadja Louw, Samantha Schnell, Mhlekazi Molatoli, Ingrid Smit, Robyn Kerr, Koen Devriendt, Aimé Lumaka, Amanda Krause, Nadia Carstens, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium +10 morewiley +1 more sourceCharacterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
Genome Medicine, 2018 Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding ...Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz +35 moredoaj +1 more sourceExome-wide association study of pancreatic cancer risk [PDF]
, 2018 We conducted a case-control exome-wide association study to discover germline variants in coding regions that affect risk for pancreatic cancer, combining data from 5 studies. We analyzed exome and genome sequencing data from 437 patients with pancreatic Biankin, Andrew, Borgida, Ayelet, Cleary, Sean, Connor, Ashton A., Cook, Natalie, Denroche, Robert E., Gallinger, Steven, Grant, Robert C., Grimmond, Sean M., Klein, Alison P., Lemire, Mathieu, Moore, Malcolm, Peterson, Gloria, Roberts, Nicholas J., Smith, Alyssa L., Stein, Lincoln, Virtanen, Carl, Wilson, Julie M., Zogopolous, George +18 morecore +1 more sourceCD24 is a promising immunotherapeutic target for enhancing efficacy of third‐generation EGFR‐TKIs on EGFR‐mutated lung cancer
Cancer Communications, Volume 45, Issue 11, Page 1547-1578, November 2025.Abstract Background
Third‐generation epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) show initial efficacy in EGFR‐mutated lung cancer, but residual disease persists. This study aimed to investigate cluster of differentiation 24 (CD24) as a translational immunotherapeutic target for enhancing third‐generation EGFR‐TKI efficacy.Jiaqi Liang, Guoshu Bi, Xiaolong Huang, Zhijie Xu, Yiwei Huang, Yunyi Bian, Guangyao Shan, Wei Guo, Yuanliang Yan, Qihai Sui, Xiaodong Yang, Zhencong Chen, Tao Lu, Huan Zhang, Qun Wang, Wei Jiang, Cheng Zhan +16 morewiley +1 more source
