Buscar
Mostrando ítems 11-20 de 30
Human syndromes with genomic instability and multiprotein machines that repair DNA double-strand breaks
(2003)
The present report deals with the functional relationships among protein complexes which, when mutated, are responsible for four human syndromes displaying cancer proneness, and whose cells are deficient in DNA double-strand ...
Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer
(W B Saunders Co-Elsevier Inc, 2017-04)
Up to 10% of cases of gastric cancer are familial, but so far, only mutations in CDH1 have been associated with gastric cancer risk. To identify genetic variants that affect risk for gastric cancer, we collected blood ...
Inflammatory breast cancer: Clinical implications of genomic alterations and mutational profiling
(2020-10-01)
Inflammatory breast cancer (IBC) is a rare and aggressive type of breast cancer whose molecular basis is poorly understood. We performed a comprehensive molecular analysis of 24 IBC biopsies naïve of treatment, using a ...
An azoospermic man with a double-strand DNA break-processing deficiency in the spermatocyte nuclei: Case report
(Oxford University Press, 2006-05)
BACKGROUND: The mechanisms of meiotic arrest in human spermatogenesis are poorly known. METHODS AND RESULTS: A testicular biopsy from an azoospermic male showed complete spermatogenesis arrest at the spermatocyte stage, ...
DNA-PKcs-dependent NHEJ pathway supports the progression of topoisomerase II poison-induced chromosome aberrant cells
(Wiley-liss, Div John Wiley & Sons Inc, 2012-10)
The role of DNA double strand break (DSB) repair pathways, non-homologous end joining (NHEJ), and homologous recombination (HR) was evaluated to prevent the chromosome instability induced by the topoisomerase II (Top2) ...
Allelotyping, Microsatellite Instability, and BRAF Mutation Analyses in Common and Atypical Melanocytic Nevi and Primary Cutaneous Melanomas
(LIPPINCOTT WILLIAMS & WILKINS, 2009)
Loss of heterozygosity (LOH) in several chromosomal regions is found in melanoma, and it has been partially studied in nevi. BRAF mutations are found in melanoma and nevi and in colorectal cancer are linked to mismatch ...
Non-homologous end joining is the responsible pathway for the repair of fludarabine-induced DNA double strand breaks in mammalian cells
(Elsevier Science, 2008-11)
Fludarabine (FLU), an analogue of adenosine, interferes with DNA synthesis and inhibits the chain elongation leading to replication arrest and DNA double strand break (DSB) formation. Mammalian cells use two main pathways ...