Frequency data for nine short tandem repeat (STR) loci were collected from 130 unrelated Caucasians from North Bavaria using the AmpFlSTR Profiler multiplex system. The loci D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S820 and the sex test amelogenin were investigated. Allele frequencies, rates of heterozygosity and the discrimination power of the combined systems were calculated by statistical analysis. Except for D5S818 all loci met Hardy-Weinberg expectations.
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http://dx.doi.org/10.1007/s004140050022 | DOI Listing |
J Fungi (Basel)
January 2025
Kashkin Research Institute of Medical Mycology, North-Western State Medical University Named after I.I. Mechnikov, 191015 Saint Petersburg, Russia.
is an emerging multidrug-resistant fungal pathogen causing nosocomial transmission and invasive infections with high mortality. This study aimed to investigate the genetic relationships, enzymatic activities, and drug-resistance profiles of isolates to evaluate the population and epidemiological diversity of candidiasis in Russia. A total of 112 clinical isolates of were analyzed from May 2017 to March 2023 in 18 hospitals across Saint Petersburg, the Leningrad Region, and Moscow.
View Article and Find Full Text PDFCells
January 2025
Institute for Population and Precision Health (IPPH), University of Chicago, Chicago, IL 60637, USA.
Arsenic (As) is a risk factor for non-melanoma skin cancer (NMSC). From a six-year follow-up study on 7000 adults exposed to As, we reported the associations of single-nucleotide variation in tumor tissue and gene expression. Here, we identify the associations of small deletions (DELs) and transcriptomic profiles in NMSC.
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January 2025
Department of Pathology, Xinqiao Hospital, Third Military Medical University, 183 Xinqiao Street, Shapingba District, Chongqing, 400037, PR China.
Background: Tandem C2 domains, nuclear (TC2N) is a protein that has been characterized to contain C2A domain, C2B domain, and a short C-terminus with a WHXL motif. In previous studies, we have uncovered the oncogenic role and mechanisms of TC2N in lung cancer: TC2N achieves this by inhibiting the p53 signaling pathway and activating the NF-kappaB signaling pathway. Beyond that, its precise function in tumorigenesis is not fully understood.
View Article and Find Full Text PDFAm J Kidney Dis
January 2025
Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.
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January 2025
College of Grassland Science and Technology, Sichuan Agricultural University, Chengdu 611130 China. Electronic address:
White clover (Trifolium repens L.) is a high-quality leguminous forage, but its short rooting habit, poor transpiration tolerance, and drought tolerance, have become a key factor restricting its growth and cultivation. 1R-MYB transcription factors (TFs) are a significant subfamily of TFs in plants, playing a vital role in regulating plant responses to drought stress, however, knowledge about the role of 1R-MYB transcription factors in white clover is still limited.
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