Results 91 to 100 of about 41,016 (281)

Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families [PDF]

, 2017
The introduction of multigene panel testing for hereditary breast/ovarian cancer screening has greatly improved efficiency, speed, and costs. However, its clinical utility is still debated, mostly due to the lack of conclusive evidences on the impact of ...
Antoniou, Antoniou, Belardinilli, Bernstein, Broeks, Brown, Buffone, Capalbo, Capalbo, Castera, Chen, Coppa, Couch, Cybulski, Daly, Desmond, Easton, Economopoulou, Foulkes, Gad, Giannini, Giannini, Goldgar, Kurian, LaDuca, Li, Lincoln, Lindor, Neitzel, Nicolussi, Os, Plon, Prodosmo, Rebbeck, Renwick, Sandoval, Steffensen, Stratton, Telatar, Thompson, Thompson, Tung, Walsh, Walsh, Weischer, Williams   +45 more
core   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

The Chromosome Passenger Complex (CPC) Components and Its Associated Pathways Are Promising Candidates to Differentiate Between Normosensitive and Radiosensitive ATM-Mutated Cells

Biomarker Insights
Background: Sensitivity to ionizing radiation differs between individuals, but there is a limited understanding of the biological mechanisms that account for these variations.
Anne Dietz, Prabal Subedi, Omid Azimzadeh, Lukas Duchrow, Felix Kaestle, Juliane Paetzold, Sarah Katharina Payer, Sabine Hornhardt, Christine von Toerne, Stefanie M Hauck, Bettina Kempkes, Cornelia Kuklik-Roos, Danielle Brandes, Arndt Borkhardt, Simone Moertl, Maria Gomolka   +15 more
doaj   +1 more source

A Macrohistone Variant Links Dynamic Chromatin Compaction to BRCA1-Dependent Genome Maintenance

Cell Reports, 2014
Appropriate DNA double-strand break (DSB) repair factor choice is essential for ensuring accurate repair outcome and genomic integrity. The factors that regulate this process remain poorly understood. Here, we identify two repressive chromatin components,
Simran Khurana, Michael J. Kruhlak, Jeongkyu Kim, Andy D. Tran, Jinping Liu, Katherine Nyswaner, Lei Shi, Parthav Jailwala, Myong-Hee Sung, Ofir Hakim, Philipp Oberdoerffer   +10 more
doaj   +1 more source

Cisplatin resistance in non-small cell lung cancer cells is associated with an abrogation of cisplatin-induced G2/M cell cycle arrest. [PDF]

PLoS ONE, 2017
The efficacy of cisplatin-based chemotherapy in cancer is limited by the occurrence of innate and acquired drug resistance. In order to better understand the mechanisms underlying acquired cisplatin resistance, we have compared the adenocarcinoma-derived
Navin Sarin, Florian Engel, Ganna V Kalayda, Mareike Mannewitz, Jindrich Cinatl, Florian Rothweiler, Martin Michaelis, Hisham Saafan, Christoph A Ritter, Ulrich Jaehde, Roland Frötschl   +10 more
doaj   +1 more source

Epidermal Growth Factor Sensitizes Cells to Ionizing Radiation by Down-regulating Protein Mutated in Ataxia-Telangiectasia [PDF]

Journal of Biological Chemistry, 2001
Epidermal growth factor (EGF) has been reported to either sensitize or protect cells against ionizing radiation. We report here that EGF increases radiosensitivity in both human fibroblasts and lymphoblasts and down-regulates both ATM (mutated in ataxia-telangiectasia (A-T)) and the catalytic subunit of DNA-dependent protein kinase (DNA-PKcs).
Gueven, Nuri, Keating, Katherine E., Chen, Philip, Fukao, Toshiyuki, Khanna, Kum Kum, Watters, Dianne, Rodemann, Peter H., Lavin, Martin F.   +7 more
openaire   +3 more sources

Genomic stability in response to high versus low linear energy transfer radiation in Arabidopsis thaliana. [PDF]

, 2014
Low linear energy transfer (LET) gamma rays and high LET HZE (high atomic weight, high energy) particles act as powerful mutagens in both plants and animals.
Britt, Anne B, Conklin, Phillip A, Friesner, Joanna D, Huefner, Neil D, Yoshiyama, Kaoru   +4 more
core   +1 more source

Cold atmospheric plasma‐mediated tumor microenvironment remodeling for cancer treatment

BMEMat, EarlyView.
Schematic presentation of CAP‐mediated TME remodeling. This review summarizes recent efforts in cold atmospheric plasma (CAP) application in cancer treatment, highlighting the anticancer potential of CAP, molecular mechanisms, and future perspectives for further improvement and clinical translation.
Israr Khan, Qiujie Fang, Cao Fei, Ziyuan Wang, Zhaowei Chen, Guojun Chen, Zhiming Xu, Shu Xu, Zhitong Chen   +8 more
wiley   +1 more source

MOLECULAR AND CELLULAR CHANGES IN ARTERIAL FUNCTION OVER THE LIFE COURSE – FROM ACCELERATED AGEING TO CALCIFICATION

Artery Research, 2018
Vascular stiffening and calcification are hallmarks of ageing and these pathologies are accelerated in patients with diabetes and renal failure. Emerging evidence has defined a role for nuclear lamina defects and the DNA damage response in driving ...
Catherine M. Shanahan
doaj   +1 more source

Atm inhibition decreases lens opacity in a rat model of galactose-induced cataract.

PLoS ONE, 2022
Cataract causes vision loss and blindness due to formation of opacities of the lens. The regulatory mechanisms of cataract formation and progression remain unclear, and no effective drug treatments are clinically available.
Masaya Nagaya, Fumito Kanada, Masaru Takashima, Yoshihiro Takamura, Masaru Inatani, Masaya Oki   +5 more
doaj   +1 more source