Results 41 to 50 of about 311,710 (149)

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

Molecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source

Generation of iPSC lines (ICHi001-A, ICHi002-A, ICHi003-A, ICHi004-A) from four patients carrying Titin truncating variants associated with dilated cardiomyopathy

Stem Cell Research
Inherited dilated cardiomyopathy (iDCM) is a disease of the heart muscle, characterized by left ventricle enlargement, systolic dysfunction and arrhythmias.
Cecilia Thairi, Rebecca Artioli, Marianna Paulis, Camilla Galli, Simon Cotič, Alessia Paldino, Ilenia Marino, Gianfranco Sinagra, Chiara Collesi, Matteo Dal Ferro, Elisa Di Pasquale   +10 more
doaj   +1 more source

Hijacking emergency granulopoiesis: Neutrophil ontogeny and reprogramming in cancer

Molecular Oncology, EarlyView.
Neutrophils are highly plastic innate immune cells; their functions in cancer extend beyond the tumour microenvironment. This Review summarises current understanding of neutrophil maturation and heterogeneity and highlights tumour‐induced granulopoiesis as a systemic programme that expands immature, immunosuppressive neutrophils via tumour‐derived ...
Gabriela Marinescu, Yi Feng
wiley   +1 more source

Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort

Open Heart
Background Hypertrophic cardiomyopathy (HCM) is an inherited disorder whose causal variants involve sarcomeric protein genes. One of these is myosin-binding protein C (MYBPC3), being previously associated with a favourable prognosis.
Carles Díez-López, María Luisa Peña-Peña, Hector Bueno, Fernando Arribas Ynsaurriaga, Vicente Climent-Payá, Maria Melendo-Viu, Rafael Salguero-Bodes, María Valverde-Gómez, Jose María Larrañaga-Moreira, Roberto Barriales, Javier Limeres Freire, Pablo Garcia Pavia, Tomas Ripoll, Maria Gallego Delgado, Esther Zorio, Francisco José Bermudez Jimenez, José Manuel García-Pinilla, Irene Méndez Fernández, Maria Sabater-Molina, Ana Perez Asensio, Álvaro Marchán-Lopez, Julián A Palomino Doza   +21 more
doaj   +1 more source

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Cardiac Resynchronization Therapy, Remodeling, and Outcome in Patients With Amyloid Transthyretin Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Transthyretin amyloid cardiomyopathy (ATTR‐CM) has a specific pathophysiology, with myocardial stiffening and systolic dysfunction only in advanced stages. We aimed to investigate the response to cardiac resynchronization therapy (CRT) in ATTR‐
Alberto Aimo, Martina Nesti, Giuseppe Vergaro, Ammar M. Killu, Dimitrios Bampatsias, Daniela Tomasoni, Cinzia Forleo, Francesco Musca, Matteo Serenelli, Julie Rosenthal, Sergio L. Teruya, Nader J. Al‐Shakarchi, Mariel S. Tameze, Vincenzo Castiglione, Alessio Nicolai, Giorgia Panichella, Riccardo Saro, Aldostefano Porcari, Giulio Sinigiani, Vera Fico, Elisa Frau, Reem Matar, Andrea I. Guaricci, Giacomo Tini, Alberto Cipriani, Maria B. Musumeci, Simone Longhi, Cristina Chimenti, Marco Metra, Martha Grogan, Federico Perfetto, Francesco Cappelli, Marco Merlo, Gianfranco Sinagra, Mathew S. Maurer, Ahmad Masri, Michele Emdin   +36 more
doaj   +1 more source

ESR1 methylation and ESR1 mutations in circulating tumor cells (CTCs) and paired plasma‐cfDNA of advanced breast cancer patients: A feasibility proof‐of‐concept study

Molecular Oncology, EarlyView.
Circulating tumor cells (CTCs) and plasma cell‐free DNA (cfDNA) were analyzed to detect ESR1 mutations and methylation in patients with advanced breast cancer. CTC‐derived DNA showed higher sensitivity for mutation detection and revealed complementary genetic and epigenetic alterations, highlighting the added value of CTC analysis for understanding ...
Dimitra Stergiopoulou, Athina Markou, Eleonora Nicolo, Mara S Serafini, Qiang Zhang, Youbin Zhang, Lorenzo Gerratana, Andrew A. Davis, Huiping Liu, William J Gradishar, Carolina Reduzzi, Massimo Cristofanilli, Evi Lianidou   +12 more
wiley   +1 more source

Final farewell to Claudio Rapezzi: observation, deduction and knowledge in medicine

Frontiers in Cardiovascular Medicine, 2023
Aldostefano Porcari, Aldostefano Porcari, Aldostefano Porcari, Gianfranco Sinagra, Gianfranco Sinagra, Cristina Candida Quarta, Marianna Fontana, Julian D. Gillmore   +7 more
doaj   +1 more source

Automated Exploration of Radical-molecule Chemistry: The Case of Oxirane + CH in the Interstellar Medium

The Astrophysical Journal
Quantum chemistry provides accurate and reliable methods to investigate reaction pathways of reactive molecular systems relevant to the interstellar medium.
Moritz Bensberg, Silvia Alessandrini, Mattia Melosso, Cristina Puzzarini, Markus Reiher   +4 more
doaj   +1 more source

DNA methylation and expression of MAPRE3 affect overall survival of early‐stage non‐small cell lung cancer patients

Molecular Oncology, EarlyView.
Both cg12821679MAPRE3 methylation and MAPRE3 expression are significantly associated with overall survival (OS) of non‐small cell lung cancer. Meanwhile, MAPRE3 expression significantly modified the effect of smoking cessation on OS. Smoking cessation benefits OS merely for patients with high MAPRE3 expression.
Chao Chen, Jiancheng Cheng, Ruili Hou, Xiaoyuan Zheng, Li Su, Maria Moksnes Bjaanæs, Anna Karlsson, Maria Planck, Johan Staaf, Åslaug Helland, Manel Esteller, David C. Christiani, Feng Chen, Xiaofei Cao, Ruyang Zhang   +14 more
wiley   +1 more source