The high rates of mutation, recombination, and replication drive HIV-1 diversity. In this study, we investigated how cell type affects viral mutation rate and mutation spectra. In studying four different cell types, no differences in mutation rate were observed, but intriguingly cell type differences impacted HIV-1 mutation spectra. This is the first description of significant differences in HIV-1 mutation spectra observed in different cell types in the absence of changes in the viral mutation rate.
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http://dx.doi.org/10.1128/JVI.03576-12 | DOI Listing |
Brief Bioinform
November 2024
Ruhr University Bochum, Medical Faculty, Core Unit Bioinformatics - CUBiMed.RUB, Universitätsstr. 105, 44789 Bochum, Germany.
Due to computational resource limitations, in mass spectrometry based proteomics only a limited set of peptide sequences is used for the matching against measured spectra. We present an approach to represent proteins by graphs and allow not only the canonical sequences but also known isoforms and annotated amino acid variations, e.g.
View Article and Find Full Text PDFJ Cancer
January 2025
Department of Urology, Renmin Hospital of Wuhan University, 430060 Wuhan, Hubei, China.
Pro-apoptotic coiled-coil domain containing 8 (CCDC8) has been linked to tumor progression and metastasis, yet its prognostic significance and underlying molecular mechanisms in bladder cancer remain to be elucidated. This study utilized raw data from public databases along with a single-center retrospective case series. We performed bioinformatics analysis and immunohistochemistry to investigate the biological landscape of CCDC8 in various tumors, with a particular focus on bladder cancer.
View Article and Find Full Text PDFAdv Sci (Weinh)
December 2024
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, 510515, China.
Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.
View Article and Find Full Text PDFBiomed Rep
February 2025
Newborn Screening Center, Foshan Women and Children Hospital, Foshan, Guangdong 528000, P.R. China.
Congenital hypothyroidism (CH) is a common neonatal endocrine disorder that is characterized by irreversible neurodevelopmental and growth retardation due to insufficient biosynthesis of thyroid hormones at birth. Determining the causative genetic variants in infants is important for neonatal management. It was aimed to evaluate the variant frequencies and spectrum of CH in the neonatal population of Foshan, China.
View Article and Find Full Text PDFNanoImpact
December 2024
In Vitro Toxicology Group, Faculty of Medicine, Health and Life Sciences, Institute of Life Sciences, Swansea University Medical School, Singleton Park, Swansea SA2 8PP, UK. Electronic address:
Multi-walled carbon nanotubes (MWCNTs) are a desirable class of high aspect ratio nanomaterials (HARNs) owing to their extensive applications. Given their demand, the growing occupational and consumer exposure to these materials has warranted an extensive investigation into potential hazards they may pose towards human health. This study utilised both the in vitro mammalian cell gene mutation and the cytokinesis-blocked micronucleus (CBMN) assays to investigate genotoxicity in human lymphoblastoid (TK6) and 16HBE14o human lung epithelial cells, following exposure to NM-400 and NM-401 MWCNTs for 24 h.
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