Results 121 to 130 of about 125,484 (288)

Genome-wide analysis of DNA copy-number changes using cDNA microarrays [PDF]

, 1999
Gene amplifications and deletions frequently contribute to tumorigenesis. Characterization of these DNA copy-number changes is important for both the basic understanding of cancer and its diagnosis.
Botstein, David, Pollack, Jonathan R., Alizadeh, Ash A., Eisen, Michael B., Williams, Cheryl F., Perou, Charles M., Pergamenschikov, Alexander, Jeffrey, Stefanie S., Brown, Patrick O.   +8 more
core   +2 more sources

DNA alterations in Cd133+ and Cd133- tumour cells enriched from intra-operative human colon tumour biopsies

BMC Cancer, 2017
Background Tumour stem cells are considered important to promote disease progression, recurrence and treatment resistance following chemotherapy in colon cancer.
Diana Cervantes-Madrid, Yvonne Wettergren, Peter Falk, Kent Lundholm, Annika G. Asting   +4 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

Benchmarking strategies for CNV calling from whole genome bisulfite data in humans

Computational and Structural Biotechnology Journal
It’s important to dissect the relationship between copy number variations (CNVs) and DNA methylation, because both greatly change the dosages of genes and are responsible for diverse human cancers.
Shanghui Zhao, Dantong Xu, Jiali Cai, Qingpeng Shen, Mingran He, Xiangchun Pan, Yahui Gao, Jiaqi Li, Xiaolong Yuan   +8 more
doaj   +1 more source

Interaction of HS1BP3 with cortactin modulates TKS5 localisation, cell secretion and cancer malignancy

Molecular Oncology, EarlyView.
Here, we demonstrate that HS1BP3 interacts with Cortactin through a proline‐rich region (PRR3.1) and show that this interaction, and HS1BP3 itself, promote cancer cell proliferation and invasion. Inhibition of this interaction leads to build‐up of TKS5 in multivesicular endosomes and altered secretion of CD63 and CD9, providing an explanation for the ...
Arja Arnesen Løchen, Kristiane Søreng, Chiara Veroni, Laura Trachsel‐Moncho, Nagham Asp, Robin Gaupset, Lars Gustav Lyckander, Helene Knævelsrud, Lars Eftang, Anne Simonsen   +9 more
wiley   +1 more source

Mosaic TP63 variant and associated ectodermal dysplasia features

JAAD Case Reports, 2021
Vivien Chen, BS, Naiem Issa, MD, PhD, Fernanda Bellodi Schmidt, MD   +2 more
doaj   +1 more source

Telomere Length and Mitochondrial DNA Copy Number Variations in Patients with Obesity: Effect of Diet-Induced Weight Loss-A Pilot Study. [PDF]

Nutrients, 2022
Cancello R, Rey F, Carelli S, Cattaldo S, Fontana JM, Goitre I, Ponzo V, Merlo FD, Zuccotti G, Bertoli S, Capodaglio P, Bo S, Brunani A.   +12 more
europepmc   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Mitochondrial DNA Copy Number Variations and Serum Pepsinogen Levels for Risk Assessment in Gastric Cancer [PDF]

Iran Biomed J, 2021
Alikhani M, Saberi S, Esmaeili M, Michel V, Tashakoripour M, Abdirad A, Aghakhani A, Eybpoosh S, Vosough M, Mohagheghi MA, Eshagh Hosseini M, Touati E, Mohammadi M.   +12 more
europepmc   +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