Results 61 to 70 of about 79,548 (256)

Diffsig: Associating Risk Factors with Mutational Signatures [PDF]

BACKGROUND: Somatic mutational signatures elucidate molecular vulnerabilities to therapy, and therefore detecting signatures and classifying tumors with respect to signatures has clinical value.
Hoadley, Katherine A., Love, Michael I., Park, Ji-Eun, Smith, Markia A., Troester, Melissa A., Van Alsten, Sarah C., Walens, Andrea, Wu, Di   +7 more
core   +2 more sources

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han, Feixia Zhan, Yuxin Yao, Li Cao, Jianguo Liu, Sheng Yao   +5 more
wiley   +1 more source

Mutational signatures are markers of drug sensitivity of cancer cells

Nature Communications, 2022
Mutational signatures can reveal the impact of mutagenic processes in cancer, including exposure to therapy. Here, the authors develop an approach that can accurately predict drug responses in cancer using mutational signatures while simultaneously ...
Jurica Levatić, Marina Salvadores, Francisco Fuster-Tormo, Fran Supek   +3 more
doaj   +1 more source

deep unfolding for non-negative matrix factorization with application to mutational signature analysis [PDF]

arXiv, 2021
Non-negative matrix factorization (NMF) is a fundamental matrix decomposition technique that is used primarily for dimensionality reduction and is increasing in popularity in the biological domain. Although finding a unique NMF is generally not possible, there are various iterative algorithms for NMF optimization that converge to locally optimal ...
arxiv  

Making tau amyloid models in vitro: a crucial and underestimated challenge

FEBS Letters, EarlyView.
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley   +1 more source

Early‐onset Alzheimer's disease shows a distinct neuropsychological profile and more aggressive trajectories of cognitive decline than late‐onset

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1962-1973, December 2022., 2022
Abstract Objectives Early‐ and late‐onset Alzheimer's disease (EOAD and LOAD) share the same neuropathological traits but show distinct cognitive features. We aimed to explore baseline and longitudinal outcomes of global and domain‐specific cognitive function in a well characterized cohort of patients with a biomarker‐based diagnosis.
Adrià Tort‐Merino, Neus Falgàs, Isabel E. Allen, Mircea Balasa, Jaume Olives, José Contador, Magdalena Castellví, Jordi Juncà‐Parella, Núria Guillén, Sergi Borrego‐Écija, Bea Bosch, Guadalupe Fernández‐Villullas, Oscar Ramos‐Campoy, Anna Antonell, Lorena Rami, Raquel Sánchez‐Valle, Albert Lladó   +16 more
wiley   +1 more source

Biological and prognostic impact of apobec-induced mutations in the spectrum of plasma cell dyscrasias [PDF]

, 2017
In multiple myeloma (MM), whole exome sequencing (WES) studies have revealed four mutational signatures: two associated with aberrant activities of APOBEC cytidine deaminases (Signatures #2 and #13) and two clock-like signatures associated with "cancer ...
Alexadrov, Ludmil, Anderson, Kenneth C., Angelopoulos, Nicos, Avet-Loiseau, Herve, Bolli, Niccolo, Campbell, Peter J., Cifola, Ingrid, Corradini, Paolo, Dawson, Kevin J., Fullam, Anthony, Keats, Jonathan, Liang, Winnie, Lionetti, Marta, Martincorena, Inigo, Maura, Francesco, Minvielle, Stephane, Munshi, Nikhil, Neri, Antonino, Petljak, Mia, Pinatel, Eva, Samur, Mehmet K., Szalat, Raphael   +21 more
core   +2 more sources

Unlocking the potential of tumor‐derived DNA in urine for cancer detection: methodological challenges and opportunities

Molecular Oncology, EarlyView.
Urine is a rich source of biomarkers for cancer detection. Tumor‐derived material is released into the bloodstream and transported to the urine. Urine can easily be collected from individuals, allowing non‐invasive cancer detection. This review discusses the rationale behind urine‐based cancer detection and its potential for cancer diagnostics ...
Birgit M. M. Wever, Renske D. M. Steenbergen   +1 more
wiley   +1 more source

Clinical applications of next‐generation sequencing‐based ctDNA analyses in breast cancer: defining treatment targets and dynamic changes during disease progression

Molecular Oncology, EarlyView.
Circulating tumor DNA (ctDNA) offers a possibility for different applications in early and late stage breast cancer management. In early breast cancer tumor informed approaches are increasingly used for detecting molecular residual disease (MRD) and early recurrence. In advanced stage, ctDNA provides a possibility for monitoring disease progression and
Eva Valentina Klocker, Samantha Hasenleithner, Rupert Bartsch, Simon P. Gampenrieder, Daniel Egle, Christian F. Singer, Gabriel Rinnerthaler, Michael Hubalek, Katja Schmitz, Zsuzsanna Bago‐Horvath, Andreas Petzer, Sonja Heibl, Ellen Heitzer, Marija Balic, Michael Gnant   +14 more
wiley   +1 more source

Association of mutation signature effectuating processes with mutation hotspots in driver genes and non-coding regions

Nature Communications, 2022
In cancer, associations between mutational signatures and driver mutations have been proposed but not fully explored. Here, the authors develop sigDriver to find associations between mutational signatures and mutation hotspots in order to predict coding ...
John K. L. Wong, Christian Aichmüller, Markus Schulze, Mario Hlevnjak, Shaymaa Elgaafary, Peter Lichter, Marc Zapatka   +6 more
doaj   +1 more source