Results 41 to 50 of about 988,007 (335)

Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma

Nature Communications, 2017
Osteosarcoma is a primary malignancy of bone that affects children and adults. Here, the authors sequence childhood and adult osteosarcomas, identifying mutations in insulin-like growth factor signalling genes and distinct genomic rearrangement profiles ...
Sam Behjati, Patrick S. Tarpey, Kerstin Haase, Hongtao Ye, Matthew D. Young, Ludmil B. Alexandrov, Sarah J. Farndon, Grace Collord, David C. Wedge, Inigo Martincorena, Susanna L. Cooke, Helen Davies, William Mifsud, Mathias Lidgren, Sancha Martin, Calli Latimer, Mark Maddison, Adam P. Butler, Jon W. Teague, Nischalan Pillay, Adam Shlien, Ultan McDermott, P. Andrew Futreal, Daniel Baumhoer, Olga Zaikova, Bodil Bjerkehagen, Ola Myklebost, M. Fernanda Amary, Roberto Tirabosco, Peter Van Loo, Michael R. Stratton, Adrienne M. Flanagan, Peter J. Campbell   +32 more
doaj   +1 more source

Anaplastic thyroid cancer: genome-based search for new targeted therapy options

Endocrine Connections, 2022
Objective: Anaplastic thyroid cancer (ATC) is one of the most lethal human cancers with meager treatment options. We aimed to identify the targeted drugs already approved by the Food and Drug Administration (FDA) for solid cancer in general, which could ...
Daniel Alexander Hescheler, Milan Janis Michael Hartmann, Burkhard Riemann, Maximilian Michel, Christiane Josephine Bruns, Hakan Alakus, Costanza Chiapponi   +6 more
doaj   +1 more source

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis

Frontiers in Endocrinology, 2021
BackgroundA limited number of targeted therapy options exist for papillary thyroid cancer (PTC) to date. Based on genetic alterations reported by the “The Cancer Genome Atlas (TCGA)”, we explored whether PTC shows alterations that may be targetable by ...
Daniel A. Hescheler, Daniel A. Hescheler, Burkhard Riemann, Milan J. M. Hartmann, Maximilian Michel, Michael Faust, Christiane J. Bruns, Hakan Alakus, Costanza Chiapponi   +8 more
doaj   +1 more source

Race: How the Post-Genomic Era Has Unmasked a Misconception Promoted by Healthcare

Medicina, 2023
The term “race” has been employed to categorize human beings into distinct groups based on some perceived biological distinctions. This concept was debunked with the completion of the Human Genome Project and its revolutionary findings that all humans ...
Donna Schaare, Ludovico Abenavoli, Luigi Boccuto   +2 more
doaj   +1 more source

EPSIN 3, A Novel p53 Target, Regulates the Apoptotic Pathway and Gastric Carcinogenesis

Neoplasia: An International Journal for Oncology Research, 2017
BACKGROUND & AIM: p53 activation by cellular stresses induces the transcription of hundreds of its target genes. To elucidate the entire picture of its downstream pathway, we screened a cDNA microarray dataset of adriamycin-treated HCT116 p53−/− or p53+/+
Jinichi Mori, Chizu Tanikawa, Naomi Ohnishi, Yuki Funauchi, Osamu Toyoshima, Koji Ueda, Koichi Matsuda   +6 more
doaj   +1 more source

Novel HLA allele associations with susceptibility, staging, symptomatic state, autoimmune hepatitis and hepatocellular carcinoma events for primary biliary cholangitis in the Japanese population

Frontiers in Immunology, 2023
Primary biliary cholangitis (PBC) is a rare autoimmune disease with a clear predisposition for human leukocyte antigen (HLA)-DR/DQ-associated loss of immune tolerance for the E2 component of the pyruvate dehydrogenase complex.
Seik-Soon Khor, Kazuko Ueno, Nao Nishida, Nao Nishida, Minae Kawashima, Yosuke Kawai, Yoshihiro Aiba, Yuki Hitomi, Masao Nagasaki, Masao Nagasaki, Minoru Nakamura, Minoru Nakamura, Minoru Nakamura, Katsushi Tokunaga   +13 more
doaj   +1 more source

A map of human genome variation from population-scale sequencing

Nature, 2010
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype.
G. Abecasis, D. Altshuler, A. Auton, L. Brooks, R. Durbin, R. Gibbs, M. Hurles, G. McVean   +7 more
semanticscholar   +1 more source

Gene editing using gamma modified PNA: HBB gene as a model

Journal of Genetic Engineering and Biotechnology
PNAs have emerged as a powerful tool in gene editing, particularly for correcting monogenic disorders by enhancing targeted recombination and genomic modifications.
Noha Eltaweel, Ghada Elkamah, Nesma Elaraby, Iman Hassan, Ahmed Wassel, Nahla Abdel-Aziz, Khalda Amr   +6 more
doaj   +1 more source

The human genome sequencing race ended 20 years ago [PDF]

The Ukrainian Biochemical Journal, 2020
The Human Genome Project, one of the most grandiose in contemporary science, was officially launched in 1990. The project aimed at determining the human DNA primary structure and gene localization and functions as well as ensuring free access of ...
M. V. Grigorieva, S. V. Komisarenko
doaj   +1 more source

The Deep Genome Project

Genome Biology, 2020
In vivo research is critical to the functional dissection of multi-organ systems and whole organism physiology, and the laboratory mouse remains a quintessential animal model for studying mammalian, especially human, pathobiology.
K. C. K. Lloyd, D. Adams, Gareth Baynam, Gareth Baynam, Gareth Baynam, A. Beaudet, F. Bosch, K. Boycott, R. Braun, M. Caulfield, R. Cohn, M. Dickinson, M. Dobbie, A. Flenniken, Paul Flicek, S. Galande, Xiang Gao, A. Grobler, Jason D. Heaney, Y. Hérault, M. H. Angelis, J. Lupski, S. Lyonnet, A. Mallon, F. Mammano, C. Macrae, R. Mcinnes, C. McKerlie, T. Meehan, S. Murray, L. Nutter, Y. Obata, H. Parkinson, M. Pepper, R. Sedláček, J. Seong, T. Shiroishi, D. Smedley, G. Tocchini-Valentini, D. Valle, C. Wang, S. Wells, Jacqueline K. White, W. Wurst, W. Wurst, Ying Xu, Steve D. M. Brown   +46 more
semanticscholar   +1 more source