Results 61 to 70 of about 297,565 (330)

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

DNA Rereplication Is Susceptible to Nucleotide-Level Mutagenesis. [PDF]

, 2019
The sources of genome instability, a hallmark of cancer, remain incompletely understood. One potential source is DNA rereplication, which arises when the mechanisms that prevent the reinitiation of replication origins within a single cell cycle are ...
Bui, Duyen T, Li, Joachim J
core  

High fidelity of RecA-catalyzed recombination: a watchdog of genetic diversity [PDF]

, 2006
Homologous recombination plays a key role in generating genetic diversity, while maintaining protein functionality. The mechanisms by which RecA enables a single-stranded segment of DNA to recognize a homologous tract within a whole genome are poorly ...
Sagi, Dror, Stavans, Joel, Tlusty, Tsvi
core   +6 more sources

Microbial profile of the appendix niche in acute appendicitis: a novel sampling approach

FEBS Open Bio, EarlyView.
This study utilized a novel sampling method, ERAT (i.e. endoscopic retrograde appendicitis treatment)‐guided lumen aspiration, to obtain samples from the appendix, and shotgun metagenomic sequencing was performed for in situ characterization of the appendix microbiome in patients with acute appendicitis.
Huimin Ma, Mingfei Wang, Yanhu Feng, Wanqi Zhang, Wenbo Wang, Yanfeng Xie, Guixiang Kong, Jie Feng, Pengfei Wang, Qi Wang, Xiaojun Huang   +10 more
wiley   +1 more source

Mismatch repair and repair of insertion/deletion loops in eukaryotic DNA

Acta Biomedica Scientifica, 2016
The mismatch repair (MMR) system detects non-Watson - Crick base pairs as well as the defects, appearing in course of DNA replication, and helps to eliminate them by catalyzing the excision of the defect-containing region of daughter DNA and its error ...
L. O. Gutsol, I. E. Egorova, S. F. Nepomnyashchikh, L. N. Minakina, M. V. Yas'ko   +4 more
doaj   +1 more source

Association of clinicopathological features with DNA mismatch repair status among colorectal cancer patients presenting to a Tertiary Care Cancer Hospital

International Journal of Advanced Medical and Health Research, 2022
Background: About 12%–15% of sporadic colorectal cancers (CRCs) display a defect in the DNA mismatch repair (MMR) system resulting in microsatellite instability (MSI).
Gayathri G Nair, Vijayalakshmi Nair, Usha Mary Abraham   +2 more
doaj   +1 more source

Defective DNA repair mechanisms in prostate cancer: impact of olaparib [PDF]

, 2017
The field of prostate oncology has continued to change dramatically. It has truly become a field that is intensely linked to molecular genetic alterations, especially DNA-repair defects.
De Felice, Francesca, Marampon, Francesco, Marchetti, Claudia, Musella, Angela, Tombolini, Vincenzo   +4 more
core   +2 more sources

The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh, Ruchi Tanavade, Nik Krajnc, Fabian Föttinger, Theresa König, Martin Krenn, Lukas Haider, Barbara Kornek, Fritz Leutmezer, Kerstin U. Ludwig, Stefan Macher, Tobias Monschein, Markus Ponleitner, Paulus Rommer, Christiane Schmied, Karin Zebenholzer, Tobias Zrzavy, Gudrun Zulehner, Franziska Di Pauli, Axel Schmidt, Harald Hegen, Berthold Pemp, Thomas Berger   +22 more
wiley   +1 more source

Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell‐only syndrome [PDF]

, 2017
Microsatellite instability is characteristic of certain types of cancer, and is present in rodents lacking specific DNA mismatch repair proteins. These azoospermic mice exhibit spermatogenic defects similar to some human testicular failure patients ...
Casella, R., Kim, E., Lamb, D.J., Lipshultz, L.I., Lévy, N., Maduro, M.R., Niederberger, C.   +6 more
core  

MutS regulates access of the error-prone DNA polymerase Pol IV to replication sites: a novel mechanism for maintaining replication fidelity [PDF]

, 2016
Translesion DNA polymerases (Pol) function in the bypass of template lesions to relieve stalled replication forks but also display potentially deleterious mutagenic phenotypes that contribute to antibiotic resistance in bacteria and lead to human disease.
Argaraña, Carlos Enrique, Fernández, Marisa Mariel, Malchiodi, Emilio Luis, Margara, Lucía, Monti, Mariela Roxana   +4 more
core   +1 more source