Results 101 to 110 of about 162,786 (255)

Single-cell copy number variant detection reveals the dynamics and diversity of adaptation.

PLoS Biology, 2018
Copy number variants (CNVs) are a pervasive source of genetic variation and evolutionary potential, but the dynamics and diversity of CNVs within evolving populations remain unclear.
Stephanie Lauer, Grace Avecilla, Pieter Spealman, Gunjan Sethia, Nathan Brandt, Sasha F Levy, David Gresham   +6 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

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

Molecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel, Izabela Kubiak, Lena Rutkowska, Żaneta Kasprzyk, Łukasz Kępczyński, Michał Bednarek, Dariusz Sobieraj, Jacek Wilkosz, Piotr Kania, Adam Jędrzejczyk, Bogdan Kałużewski, Agnieszka Gach, Tadeusz Kałużewski   +12 more
wiley   +1 more source

Developmental programmes drive cellular plasticity, disease progression and therapy resistance in lung adenocarcinoma

Molecular Oncology, EarlyView.
This study shows that lung adenocarcinomas exploit developmental branching morphogenesis to acquire a therapy resistant basal‐like tumour cell state. This process was found to be regulated by combined TP53 loss‐of‐function and type‐I interferon signalling, identifying a novel axis for biomarker and therapeutic target discovery.
Kamila J Bienkowska, Stephany Gallardo, Nur S. Zainal, Leena Arora, Matthew Ellis, Maria‐Antoinette Lopez, Judith Austine, Sai Pittla, Serena J Chee, Aiman Alzetani, Emily C Shaw, Christian H Ottensmeier, Gareth J Thomas, Christopher J Hanley   +13 more
wiley   +1 more source

Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis

Saudi Journal of Medicine and Medical Sciences
Background Structural variants (SVs), such as copy number variants (CNVs), insertions, deletions, inversions, and translocations, contribute significantly to genetic diversity and disease etiology.
Raniah Saleem Alotibi, Mariam M. Al Eissa, Taghrid Aloraini, Khalidah Khalid Nasser, Muneera J. Al Shammari, Amerh S. Alqahtani   +5 more
doaj   +1 more source

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

A novel quinazolinone insulin receptor inhibitor and its synergy with an EGFR inhibitor in glucose‐driven glioblastoma

Molecular Oncology, EarlyView.
The novel styrylquinazolinone‐based molecule W1B effectively suppresses glioblastoma by inhibiting IGF1R and EGFR. In high‐glucose microenvironments driving tumor resistance, W1B acts synergistically with the EGFR inhibitor dacomitinib. This combination safely blocks compensatory survival signaling in zebrafish xenograft models. Showcasing promising in
Patryk Rurka, Wioleta Cieślik, Wojciech Płaziński, Katarzyna Stępnik, Anna Boguszewska‐Czubara, Elżbieta Kot, Robert Musioł, Mateusz Jasica, Anna Mrozek‐Wilczkiewicz, Katarzyna Malarz   +9 more
wiley   +1 more source

Tumor B‐cell infiltration in platinum‐treated advanced muscle‐invasive urothelial carcinoma

Molecular Oncology, EarlyView.
Bladder tumors with higher pretreatment memory B‐cell infiltration were linked to longer survival after cisplatin chemotherapy, but not carboplatin. These tumors also showed more organized immune structures (tertiary lymphoid structures) and a shared pro‐inflammatory B‐cell‐rich community, suggesting that memory B cells may help identify patients most ...
Konrad Stawiski, Júlia Perera‐Bel, Alejo Rodriguez‐Vida, Nuria Juanpere, Jihyun Lee, Daniel E. Michaud, Jennifer L. Guerriero, Kent W. Mouw, Aristotelis Bamias, Filipe L. F. Carvalho, Joaquim Bellmunt   +10 more
wiley   +1 more source

Genome-wide investigation to assess copy number variants in the Italian local chicken population

Journal of Animal Science and Biotechnology
Background Copy number variants (CNV) hold significant functional and evolutionary importance. Numerous ongoing CNV studies aim to elucidate the etiology of human diseases and gain insights into the population structure of livestock.
Filippo Cendron, Martino Cassandro, Mauro Penasa   +2 more
doaj   +1 more source

Loss of proton‐sensing TDAG8 increases tumor progression in mouse models of colon cancer

Molecular Oncology, EarlyView.
Loss of the pH‐sensing receptor TDAG8 accelerates colorectal cancer progression in mice. Animals lacking TDAG8 expression had increased tumor growth, DNA damage, and recruitment of tumor‐associated immune cells, including macrophages, neutrophils, and monocytes.
Ermanno Malagola, Yasmine Illi, Anna Bircher, Marijn Wilmink, Rachele F. Malagutti, Solenn Ottié, Cordelia Schuler, Pedro A. Ruiz, Cheryl de Vallière, Klaus Seuwen, Gerhard Rogler, Martin Hausmann   +11 more
wiley   +1 more source