Results 131 to 140 of about 5,512,004 (328)
An open resource of structural variation for medical and population genetics
, 2019 Structural variants (SVs) rearrange the linear and three-dimensional organization of the genome, which can have profound consequences in evolution, diversity, and disease.Ryan L. Collins, H. Brand, K. Karczewski, Xuefang Zhao, Jessica Alföldi, A. Khera, L. Francioli, L. Gauthier, Harold Wang, N. Watts, M. Solomonson, A. O’Donnell-Luria, Alexander Baumann, Ruchi Munshi, Chelsea Lowther, Mark Walker, Christopher W. Whelan, Yongqing Huang, Ted Brookings, Ted Sharpe, M. Stone, E. Valkanas, Jack M. Fu, G. Tiao, Kristen M. Laricchia, C. Stevens, N. Gupta, L. Margolin, J. Spertus, K. Taylor, Henry J. Lin, S. Rich, W. Post, Y. Ida Chen, J. Rotter, C. Nusbaum, A. Philippakis, E. Lander, S. Gabriel, B. Neale, S. Kathiresan, M. Daly, E. Banks, D. MacArthur, M. Talkowski +44 moresemanticscholar +1 more sourceTargeting the AKT/mTOR pathway attenuates the metastatic potential of colorectal carcinoma circulating tumor cells in a murine xenotransplantation model
Molecular Oncology, EarlyView.Dual targeting of AKT and mTOR using MK2206 and RAD001 reduces tumor burden in an intracardiac colon cancer circulating tumor cell xenotransplantation model. Analysis of AKT isoform‐specific knockdowns in CTC‐MCC‐41 reveals differentially regulated proteins and phospho‐proteins by liquid chromatography coupled mass spectrometry. Circulating tumor cells Daniel J. Smit, Thais Pereira‐Veiga, Helena Brauer, Michael Horn, Paula Nissen, Thomas Mair, Bente Siebels, Hannah Voß, Ruimeng Zhuang, Marie‐Therese Haider, Desiree Loreth, Margarita Iskhakova, Bele Lindemann, Julian Kött, Laure Cayrefourcq, Jasmin Wellbrock, Hartmut Schlüter, Klaus Pantel, Catherine Alix‐Panabières, Manfred Jücker +19 morewiley +1 more sourceChemoresistome mapping in individual breast cancer patients unravels diversity in dynamic transcriptional adaptation
Molecular Oncology, EarlyView.This study used longitudinal transcriptomics and gene‐pattern classification to uncover patient‐specific mechanisms of chemotherapy resistance in breast cancer. Findings reveal preexisting drug‐tolerant states in primary tumors and diverse gene rewiring patterns across patients, converging on a few dysregulated functional modules. Despite receiving the Maya Dadiani, Gilgi Friedlander, Gili Perry, Nora Balint‐Lahat, Shlomit Gilad, Dana Morzaev‐Sulzbach, Anjana Shenoy, Noa Bossel Ben‐Moshe, Anya Pavlovsky, Rinat Bernstein‐Molho, Eytan Domany, Iris Barshack, Tamar Geiger, Bella Kaufman, Einav Nili Gal‐Yam +14 morewiley +1 more sourceNext-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Genetics in Medicine, 2021 C. Rehder, Lora J. H. Bean, D. Bick, E. Chao, W. Chung, Soma Das, Julianne M. O’Daniel, H. Rehm, V. Shashi, L. Vincent +9 moresemanticscholar +1 more sourceTonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages
Molecular Oncology, EarlyView.B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...Paula Díez, Pablo Juanes‐Velasco, Marina L. García‐Vaquero, Conrad Droste, Alicia Landeira‐Viñuela, Miguel Alcoceba, Helena Fidalgo‐Gómez, Sara Misiego‐Herrero, Almudena Navarro‐Bailón, Mónica Baile, José M. Bastida, Jose Manuel Sanchez‐Santos, Rafael Góngora, Julia Almeida, Marcos Gonzalez‐Diaz, Alberto Orfao, Javier De Las Rivas, Manuel Fuentes +17 morewiley +1 more sourceExpression and DNA methylation of 20S proteasome subunits as prognostic and resistance markers in cancer
Molecular Oncology, EarlyView.Comprehensive analysis of genomic mutations, gene expression, DNA methylation, and pathway analysis of TCGA data was carried out to define cancer types in which proteasome subunits expression is associated with worse survival. Albeit the effect of specific proteasome subunits on cellular function, the main role of the proteasome is better evaluated ...Ruba Al‐Abdulla, Simone Venz, Ruslan Al‐Ali, Martin Wendlandt, Mandy Radefeldt, Elke Krüger +5 morewiley +1 more sourceEarly metastasis is characterized by Gr1+ cell dysregulation and is inhibited by immunomodulatory nanoparticles
Molecular Oncology, EarlyView.Breast cancer metastasis is associated with myeloid cell dysregulation and the lung‐specific accumulation of tumor‐supportive Gr1+ cells. Gr1+ cells support metastasis, in part, through a CHI3L1‐mediated mechanism, which can be targeted and inhibited with cargo‐free, polymeric nanoparticles.Jeffrey A. Ma, Sophia M. Orbach, Kate V. Griffin, Kathryn Kang, Yining Zhang, Rebecca S. Pereles, Ian A. Schrack, Guillermo Escalona, Jacqueline S. Jeruss, Lonnie D. Shea +9 morewiley +1 more sourceThe FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. [PDF]
, 2019 Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk.Aalfs, Cora M, ABCTB Investigators, Adank, Muriel A, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B, Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E, Beauparlant, Charles Joly, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M, Blomqvist, Carl, Bogdanova, Natalia V, Bogliolo, Massimo, Bojesen, Anders, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Brady, Angela F, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Cadoo, Karen, Caldés, Trinidad, Caleca, Laura, Caliebe, Almuth, Caligo, Maria A, Campa, Daniele, Campbell, Ian G, Canzian, Federico, Castelao, Jose E, Catucci, Irene, Chang-Claude, Jenny, Chanock, Stephen J, Claes, Kathleen BM, Clarke, Christine L, Collavoli, Anita, Conner, Thomas A, Cox, David G, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figlioli, Gisella, Figueroa, Jonine, Flyger, Henrik, Foulkes, William D, Friebel, Tara M, Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Kiiski, Johanna I, Lasheras, Sandra Viz, Leslie, Goska, Michailidou, Kyriaki, Muranen, Taru A, Pujol, Roser +99 morecore Detecting homologous recombination deficiency for breast cancer through integrative analysis of genomic data
Molecular Oncology, EarlyView.This study develops a semi‐supervised classifier integrating multi‐genomic data (1404 training/5893 validation samples) to improve homologous recombination deficiency (HRD) detection in breast cancer. Our method demonstrates prognostic value and predicts chemotherapy/PARP inhibitor sensitivity in HRD+ tumours.Rong Zhu, Katherine Eason, Suet‐Feung Chin, Paul A. W. Edwards, Raquel Manzano Garcia, Richard Moulange, Jia Wern Pan, Soo Hwang Teo, Sach Mukherjee, Maurizio Callari, Carlos Caldas, Stephen‐John Sammut, Oscar M. Rueda +12 morewiley +1 more source
