17 results match your criteria: "Institute of Biochemistry and Genetics of the Ufa Federal Research Centre[Affiliation]"

Background: The 313-variant polygenic risk score (PRS) provides a promising tool for clinical breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed.

Methods: We explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer diagnosis, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 223,316 females without breast cancer diagnosis from the UK Biobank.

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Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.

Am J Hum Genet

September 2024

Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia; Faculty of Medicine, The University of Queensland, Brisbane, QLD 4072, Australia. Electronic address:

Article Synopsis
  • * Analysis of data from over 55,000 breast cancer patients showed that co-observation of variants in BRCA1, BRCA2, and PALB2 with other breast cancer genes occurred less frequently than expected, suggesting a potential correlation with pathogenicity.
  • * The findings indicate that identifying a variant of uncertain significance alongside a known pathogenic variant supports evidence against the variant's pathogenicity, which could improve variant classification in clinical settings and for other genetic conditions.
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Beneficial endophytic bacteria can suppress the development of insect pests through direct antagonism, with the help of metabolites, or indirectly by the induction of systemic resistance through the regulation of hormonal signaling pathways. Lipopeptides are bacterial metabolites that exhibit direct antagonistic activity against many organisms, including insects. Also, lipopeptides are able to trigger induced systemic resistance (ISR) in plants against harmful organisms, but the physiological mechanisms of their action are just beginning to be studied.

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Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Nat Genet

July 2024

MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK.

Article Synopsis
  • Scientists looked at the timing of when girls start their periods (called menarche) and how it can affect their health later in life.
  • They studied about 800,000 women and found over a thousand genetic signals that influence when menstruation starts.
  • Some women have a much higher chance of starting their periods too early or too late based on their genetic makeup, suggesting that genes play a big role in this process!
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Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.

Am J Hum Genet

June 2024

Center for Bioinformatics and Functional Genomics and the Cedars Sinai Genomics Core, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Electronic address:

To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five histotype-specific EOC risk regions (p value <5 × 10) and confirmed previously reported associations for 27 risk regions. Conditional analyses identified an additional 11 signals independent of the primary signal at six risk regions (p value <10).

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The 313-variant polygenic risk score (PRS) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS across different European populations which could influence risk estimation has not been performed. Here, we explored the distribution of PRS across European populations using genotype data from 94,072 females without breast cancer, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 225,105 female participants from the UK Biobank.

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Berliner () and sensu stricto Frankland and Frankland are closely related species of aerobic, spore-forming bacteria included in the sensu lato group. This group is one of the most studied, but it remains also the most mysterious species of bacteria. Despite more than a century of research on the features of these ubiquitous bacteria, there are a lot of questionable issues related to their taxonomy, resistance to external influences, endophytic existence, their place in multidimensional relationships in the ecosystem, and many others.

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We present a major update of the HOCOMOCO collection that provides DNA binding specificity patterns of 949 human transcription factors and 720 mouse orthologs. To make this release, we performed motif discovery in peak sets that originated from 14 183 ChIP-Seq experiments and reads from 2554 HT-SELEX experiments yielding more than 400 thousand candidate motifs. The candidate motifs were annotated according to their similarity to known motifs and the hierarchy of DNA-binding domains of the respective transcription factors.

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Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

medRxiv

June 2023

MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.

Pubertal timing varies considerably and has been associated with a range of health outcomes in later life. To elucidate the underlying biological mechanisms, we performed multi-ancestry genetic analyses in ~800,000 women, identifying 1,080 independent signals associated with age at menarche. Collectively these loci explained 11% of the trait variance in an independent sample, with women at the top and bottom 1% of polygenic risk exhibiting a ~11 and ~14-fold higher risk of delayed and precocious pubertal development, respectively.

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Article Synopsis
  • * The study revealed significant variation in the prevalence of four common PTVs across different regions in Europe, with p.Gln1701* being most common in Northern Europe and p.Gly1906Alafs*12 most common in Southern Europe.
  • * Findings suggest that the distribution of rare PTVs is more heterogeneous in Southwestern and Central Europe compared to Northeastern Europe, which will aid in crafting targeted genetic testing for breast cancer in specific European populations.
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Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry.

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Plant damage caused by defoliating insects has a long-term negative effect on plant growth and productivity. Consequently, the restoration of plant growth after exposure to pathogens or pests is the main indicator of the effectiveness of the implemented defense reactions. A short-term Say attack on potato tube-grown plantlets ( L.

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Novel properties of a previously obtained 26DCryChS strain are described. The 26DCryChS strain is able to produce Cry1Ia δ-endotoxin from B-5351 and to exist in internal plant tissues of potato plants in the same manner as the endophytic 26D source strain (487 ± 53 and 420 ± 63 CFU*10/g, respectively). 26DCryChS, as much as the original 26D strain, inhibited mycelium growth of oomycete (Mont.

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This article presents the results of comprehensive studies to analyze the effect of a mixture of phytoecdysteroids extracted from the juice of Serratula coronata L. on the productivity and vitality of ducklings when grown for meat, and the optimal doses of its inclusion in the diet of the bird are revealed. The methodological basis of this study was the earlier works of domestic and foreign scientists on the topic under study.

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Two truncating variants in FANCC and breast cancer risk.

Sci Rep

August 2019

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies.

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Molecular genetic studies of attention deficit hyperactivity disorder (ADHD) have demonstrated the involvement of multiple genes in the etiology of ADHD. A polygenic hypothesis of the etiopathogenesis was formulated without clear knowledge of common mechanisms of ADHD development. Twin, family and adoption studies have established the heritability of 70-80% for ADHD.

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