Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.cjca.2025.01.022 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mapping the monogenic and polygenic architecture of mitral valve prolapse.
Can J Cardiol
January 2025
Institut universitaire de cardiologie et de pneumologie de Québec - Université Laval, Quebec City, Canada.
The genetic architecture of resistance to flubendiamide insecticide in Helicoverpa armigera (Hübner).
PLoS One
January 2025
Department of Entomology and Acarology, Luiz de Queiroz College of Agriculture (ESALQ), University of São Paulo (USP), Piracicaba, São Paulo, Brazil.
Insecticide resistance is a major problem in food production, environmental sustainability, and human health. The cotton bollworm Helicoverpa armigera is a globally distributed crop pest affecting over 300 crop species. H.
View Article and Find Full Text PDFAdvancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Am J Hum Genet
January 2025
UC Santa Cruz Genomics Institute, University of California, Santa Cruz, Santa Cruz, CA, USA. Electronic address:
More than 50% of families with suspected rare monogenic diseases remain unsolved after whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing and providing haplotype-resolved methylation profiling. To evaluate LRS's additional diagnostic yield, we sequenced a rare-disease cohort of 98 samples from 41 families, using nanopore sequencing, achieving per sample ∼36× average coverage and 32-kb read N50 from a single flow cell.
View Article and Find Full Text PDFSpatial covariance reveals isothiocyanate natural products adjust redox stress to restore function in alpha-1-antitrypsin deficiency.
Cell Rep Med
January 2025
Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA, USA. Electronic address:
Alpha-1 antitrypsin (AAT) deficiency (AATD) is a monogenic disease caused by misfolding of AAT variants resulting in gain-of-toxic aggregation in the liver and loss of monomer activity in the lung leading to chronic obstructive pulmonary disease (COPD). Using high-throughput screening, we discovered a bioactive natural product, phenethyl isothiocyanate (PEITC), highly enriched in cruciferous vegetables, including watercress and broccoli, which improves the level of monomer secretion and neutrophil elastase (NE) inhibitory activity of AAT-Z through the endoplasmic reticulum (ER) redox sensor protein disulfide isomerase (PDI) A4 (PDIA4). The intracellular polymer burden of AAT-Z can be managed by combination treatment of PEITC and an autophagy activator.
View Article and Find Full Text PDFMapping an avirulence gene in the sunflower parasitic weed Orobanche cumana and characterization of host selection based on virulence alleles.
BMC Plant Biol
November 2024
Instituto de Agricultura Sostenible (IAS-CSIC), Alameda del Obispo s/n, Córdoba, 14004, Spain.
Article Synopsis
- Sunflower broomrape (Orobanche cumana) is a parasitic plant harming sunflower crops in Europe and Asia, with a new virulent population identified in Southern Spain that can overcome existing resistance in sunflower hybrids.
- The study involved analyzing 144 families from a cross between different populations of O. cumana and showed a 1:3 ratio of avirulent to virulent plants, suggesting that the trait is controlled by a single gene, mapped to chromosome 2.
- This research is the first to map an avirulence gene in a parasitic plant, confirming a gene-for-gene relationship between O. cumana and sunflowers and revealing how the presence of this gene affects the population structure of the parasite
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!