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Risk factors for isolated congenital heart defects in infants from Western Mexico.
Congenit Anom (Kyoto)
December 2024
Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetics Unit, Pediatrics Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Jalisco, Mexico.
Congenital heart defects (CHDs) are caused by a complex interaction between numerous genetic and environmental risk factors, some of which may differ between different populations. A case-control study was conducted among 1232 newborns, including 308 patients with isolated CHDs (cases) and 924 infants without birth defects (controls), born all during the period 2009-2023 at the Hospital Civil de Guadalajara "Dr. Juan I.
View Article and Find Full Text PDFHuman telomere length detected by quantitative fluorescent in situ hybridization: overlooked importance and application.
Crit Rev Clin Lab Sci
December 2024
Department of Occupational Health and Occupational Diseases, College of Public Health, Zhengzhou University, Zhengzhou, Henan, China.
The technique of Quantitative Fluorescence Hybridization (Q-FISH) plays a crucial role in determining the length of telomeres for studies in molecular biology and cytogenetics. Throughout the years, the use of Q-FISH for measuring telomere length has made substantial contributions to research in aging, cancer, and stem cells. The objective of this analysis is to delineate the categorization, fundamental concepts, pros and cons, and safety measures of Q-FISH in telomere length analysis, encapsulate, and anticipate its principal uses across diverse human biomedical research fields.
View Article and Find Full Text PDFNGS Detects Extensive Genomic Alterations in Survivors of Irradiated Normal Human Fibroblast Cells.
Radiat Res
December 2024
Institute of Medical Radiation Biology, University of Duisburg-Essen Medical School, Essen, Germany.
It is thought that cells surviving ionizing radiation exposure repair DNA double-strand breaks (DSBs) and restore their genomes. However, the recent biochemical and genetic characterization of DSB repair pathways reveals that only homologous recombination (HR) can function in an error-free manner and that the non-homologous end joining (NHEJ) pathways canonical NHEJ (c-NHEJ), alternative end joining (alt-EJ), and single-strand annealing (SSA) are error-prone, and potentially leave behind genomic scars and altered genomes. The strong cell cycle restriction of HR to S/G2 phases and the unparalleled efficiency of c-NHEJ throughout the cell cycle, raise the intriguing question as to how far a surviving cell "reaches" after repairing the genome back to its pre-irradiation state.
View Article and Find Full Text PDFGenomic scarring score predicts the response to PARP inhibitors in non-small cell lung cancer.
NPJ Precis Oncol
December 2024
Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
PARP inhibitors (PARPi) have shown efficacy in tumours harbouring mutations in homologous recombination repair (HRR) genes. Somatic HRR mutations have been described in patients with Non-Small Cell Lung Cancer (NSCLC), but PARP inhibitors (PARPi) are not yet a therapeutic option. Here we assessed the homologous recombination status of early-stage NSCLC and explored the therapeutic benefit of PARPi in preclinical models.
View Article and Find Full Text PDFAllium chromosome evolution and DNA sequence localization.
Mol Biol Rep
December 2024
Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, LE1 7RH, UK.
Background: Molecular cytogenetics, utilizing DNA probes, serves as a critical tool for mapping genes to the physical structures of chromosomes.
Methods: In this study, we examined three Allium species: A. cepa L.
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