Results 61 to 70 of about 93,154 (303)

Germline mutation contribution to chromosomal instability

, 2017
Genomic instability is a feature of cancer that fuels oncogenesis through increased frequency of genetic disruption, leading to loss of genomic integrity and promoting clonal evolution as well as tumor transformation.
Joanne Ngeow, Sock Hoai Chan
core   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Alternative Splicing of CHEK2 and Codeletion with NF2 Promote Chromosomal Instability in Meningioma

Neoplasia: An International Journal for Oncology Research, 2012
Mutations of the NF2 gene on chromosome 22q are thought to initiate tumorigenesis in nearly 50% of meningiomas, and 22q deletion is the earliest and most frequent large-scale chromosomal abnormality observed in these tumors.
Hong Wei Yang, Tae-Min Kim, Sydney S. Song, Nihal Shrinath, Richard Park, Michel Kalamarides, Peter J. Park, Peter M. Black, Rona S. Carroll, Mark D. Johnson   +9 more
doaj   +1 more source

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

Transcriptional profiling of circulating extracellular vesicles from prebiopsy prostate cancer patients

Molecular Oncology, EarlyView.
RNA profiling of circulating extracellular vesicles (EVs) from blood samples of men undergoing prostate biopsy identifies transcripts associated with clinically significant prostate cancer. Integrative analysis with public tumor datasets links EV‐derived gene signatures to tumor stage and progression‐free survival, highlighting CASP3, XRCC2, and RIT1 ...
Stefan Werner, Pierre Tennstedt, Randi C. Pose, Christian Müller, Katharina Besler, Svenja Schneegans, Malik Alawi, Marie C. Roesch, Sven Peine, Desiree Bonci, Joanna Budna‐Tukan, Evi Lianidou, Catherine Alix‐Panabières, Derya Tilki, Klaus Pantel   +14 more
wiley   +1 more source

Fluconazole induces ROS in Cryptococcus neoformans and contributes to DNA damage in vitro.

PLoS ONE, 2018
Pathogenic basidiomycetous yeast, Cryptococcus neoformans, causes fatal meningitis in immunocompromised individuals. Fluconazole (FLC) is a fungistatic drug commonly administered to treat cryptococcosis. Unfortunately, FLC-resistant strains characterized
Congyue Annie Peng, Andrea A E Gaertner, Sarah Ana Henriquez, Diana Fang, Rodney J Colon-Reyes, Julia L Brumaghim, Lukasz Kozubowski   +6 more
doaj   +1 more source

A phylogenetically-restricted essential cell cycle progression factor in the human pathogen Candida albicans

Nature Communications, 2022
Chromosomal instability caused by cell division errors is associated with antifungal drug resistance in fungal pathogens. Here, Jaitly et al. identify several genes involved in chromosomal stability in Candida albicans, including a phylogenetically ...
Priya Jaitly, Mélanie Legrand, Abhijit Das, Tejas Patel, Murielle Chauvel, Corinne Maufrais, Christophe d’Enfert, Kaustuv Sanyal   +7 more
doaj   +1 more source

DNA Double-Strand Breaks Affect Chromosomal Rearrangements during Methotrexate-Mediated Gene Amplification in Chinese Hamster Ovary Cells

Pharmaceutics, 2021
Methotrexate (MTX)-mediated gene amplification has been widely used in Chinese hamster ovary (CHO) cells for the biomanufacturing of therapeutic proteins.
Jong Youn Baik, Hye-Jin Han, Kelvin H. Lee   +2 more
doaj   +1 more source

Chromosome instability syndromes

Best Practice & Research Clinical Haematology, 2001
The chromosome instability syndromes, ataxia telangiectasia (A-T), Fanconi anaemia (FA) and Bloom syndrome (BS) have been known for many years. More recently Nijmegen breakage syndrome (NBS) and ataxia telangiectasia-like disorder (ATLD) have been identified.
openaire   +3 more sources

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