Results 81 to 90 of about 2,938,873 (406)

Targeting 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 more
wiley   +1 more source

Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023
Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler, Anita E. Beck, Ball Susie, Bartolomaeus Tobias, Amber Begtrup, Saskia Biskup, Oana Caluseriu, Norman Delanty, Christine Fröhlich, Marie T. Greally, Maike Karnstedt, Chiara Klöckner, Joanne Kurtzberg, Susanna Schubert, Martin Schulze, Michael Weidenbach, Dominik S. Westphal, Maire White, Cordula M. Wolf, Jacob Zyskind, Bernt Popp, Vincent Strehlow   +21 more
wiley   +1 more source

Immunohistochemical Expression of p53 Gene and Clinicopathological Assessment of Low-grade Serous Ovarian Cancer and High-grade Serous Ovarian Cancer: A Cohort Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Ovarian cancer is a significant global health concern for women. More than 85-90% of ovarian cancer cases originates from epithelial causes. Dysfunctional p53 is a hallmark of many cancers, including ovarian cancer.
Geeta Bazard, Minakshi Vashist, Sunita Singh, Gulshan Rohilla, Nidhi Paliwal   +4 more
doaj   +1 more source

Interactions of physical activity, muscular fitness, adiposity, and genetic risk for NAFLD

Hepatology Communications, 2022
Genetic predisposition and unhealthy lifestyle are risk factors for nonalcoholic fatty liver disease (NAFLD). We investigated whether the genetic risk of NAFLD is modified by physical activity, muscular fitness, and/or adiposity.
Theresia M. Schnurr, Sophia Figueroa Katz, Johanne M. Justesen, Jack W. O’Sullivan, Peter Saliba‐Gustafsson, Themistocles L. Assimes, Ivan Carcamo‐Orive, Aijaz Ahmed, Euan A. Ashley, Torben Hansen, Joshua W. Knowles   +10 more
doaj   +1 more source

Stroke genetics: prospects for personalized medicine. [PDF]

, 2012
Epidemiologic evidence supports a genetic predisposition to stroke. Recent advances, primarily using the genome-wide association study approach, are transforming what we know about the genetics of multifactorial stroke, and are identifying novel stroke ...
A Gschwendtner, A Hassan, A Helgadottir, A Helgadottir, A Joutel, A Viswanathan, AB Singleton, AJ Bowes, AV Shirodkar, B Rohrer, C Bellenguez, CAPRIE Steering Committee, CS Ku, D Sibbing, DF Gudbjartsson, DJ Klionsky, DK Wysowski, DL Bhatt, DR Holmes Jr, DS Budnitz, E Flossmann, G Paré, HC Diener, HS Markus, HS Markus, Hugh S Markus, J Hardy, JA Johnson, JB Olesen, JF Meschia, JL Mega, JN Hirschhorn, JT O'Brien, L Wang, M Dichgans, M Kubo, M Serizawa, MA Ikram, MV Holmes, P Jerrard-Dunne, P Kraft, P Polychronopoulos, PC Ng, RL Sacco, RS Epstein, S Bevan, S Gretarsdottir, S Gretarsdottir, S Lanfranconi, S Olsson, S Seshadri, S Seshadri, SE Nissen, The International Warfarin Pharmacogenetics Consortium, VG Manolopoulos, VL Roger   +55 more
core   +2 more sources

Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition

Journal of the National Cancer Institute, 2019
Background Women with epithelial ovarian cancer (OC) have a higher chance to benefit from poly (ADP-ribose) polymerase inhibitor (PARPi) therapy if their tumor has a somatic or hereditary BRCA1/2 pathogenic variant.
J. Vos, Ingrid E Fakkert, J. D. de Hullu, A. van Altena, A. S. Sie, H. Ouchene, R. Willems, I. Nagtegaal, M. Jongmans, A. Mensenkamp, G. Woldringh, J. Bulten, E. Leter, C. Kets, M. Simons, M. Ligtenberg, N. Hoogerbrugge, Inge M W Ineke M Nicole G Nelleke Robbert J M Caroline Ebisch de Kievit Laurens Ottevanger van Alphen Vos, Inge M W Ebisch, I. D. de Kievit, N. Laurens, N. Ottevanger, R. van Alphen, M. Vos, Anneke A M van den Wurff, Roel van Kampen, H. Mertens, P. Sastrowijoto, M. Engelen, R. Lalisang, B. Slangen, L. Kooreman, G. Creemers, J. Piek, P. Klinkhamer, J. Jeuken, A. L. Aalders, R. Aliredjo   +37 more
semanticscholar   +1 more source

Highly multiplexed digital PCR assay for simultaneous quantification of variant allele frequencies and copy number alterations of KRAS and GNAS in pancreatic cancer precursors

Molecular Oncology, EarlyView.
Combining melting curve analysis enhances the multiplexing capability of digital PCR. Here, we developed a 14‐plex assay to simultaneously measure single nucleotide mutations and amplifications of KRAS and GNAS, which are common driver genes in pancreatic cancer precursors. This assay accurately quantified variant allele frequencies in clinical samples
Junko Tanaka, Tatsuo Nakagawa, Yusuke Ono, Yoshio Kamura, Takeshi Ishida, Hidemasa Kawabata, Kenji Takahashi, Hiroki Sato, Andrew S. Liss, Yusuke Mizukami, Takahide Yokoi   +10 more
wiley   +1 more source

Genetic Influences on Snoring: A Narrative Review [PDF]

Sleep Medicine Research
Snoring is a sound that results from vibrations of soft tissues in the narrowed upper airway during sleep. Obstructive sleep apnea (OSA) is a disease entity that must be properly treated.
Sun A Han, Jeong-Whun Kim
doaj   +1 more source

Are Genetics Involved in the Development of Multisystem Inflammatory Syndromes in Children?

Trends in Pediatrics, 2022
The relationship between Multisystem Inflammatory Syndrome in Children (MIS-C) and genetic predisposition is not well established. The aim of this article emphasize the presence of genetic predisposition in MIS-C by presenting two sibling cases from two
Sevcan Ipek, Ufuk Utku Güllü
doaj   +1 more source

Understanding the Use of Genetic Predisposition in Canadian Legal Decisions [PDF]

, 2014
Since the advent of the Human Genome Project in 1989, the ethical, legal, and social implications inherent in future genetic science and its applications have worried researchers and scholars in law and ethics. Concern that the results of genetic testing
Finkler, Lilith, Mykitiuk, Roxanne, Nisker, Jeff, Pioro, Mark   +3 more
core   +1 more source