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Новое в науке на 2023-06-03
Keeping up with the latest variant-related research is vital for genomic medicine. Here we present LitVar 2.0, a significantly improved web-based system to accurately search for genetic variants in the unstructured literature. LitVar 2.0 provides a unified search of full text and supplementary data, and improved variant recognition accuracy.
2023-06-02
Entity normalization is an important information extraction task which has recently gained attention, particularly in the clinical/biomedical and life science domains. On several datasets, state-of-the-art...
2023-06-02
Using a combination of biochemical, structural and computational analyses, the authors unveil the mechanism of bacterial RNA polymerase pausing and restart mediated by a small-molecule-dependent RNA structural element termed a riboswitch.
2023-06-01
Comutation plot is a widely used visualization method to deliver a global view of the mutation landscape of large-scale genomic studies. Current tools for creating comutation plot are either offline packages...
2023-06-01
N6-methyladenosine (m6A) modification is involved in tumorigenesis and progression as well as closely correlated with stem cell differentiation and pluripotency. Moreover, tumor progression includes the...
2023-06-01
As a common chronic disease, diabetes is called the “second killer” among modern diseases. Currently, there is no medical cure for diabetes. We can only rely on medication for auxiliary treatment. However,...
2023-06-01
Meta-analysis of genome-wide association studies of spontaneous coronary artery dissection (SCAD), an important cause of myocardial infarction, identified 11 risk loci that involve genes related to artery integrity and tissue-mediated coagulation. Evidence supports SCAD as a genetically distinct condition from atherosclerotic coronary artery disease.
2023-05-29
Genome-wide association analyses identify risk loci for spontaneous coronary artery dissection and implicate arterial integrity and tissue-mediated coagulation in the disease etiology. Several risk variants show opposite effects on coronary artery disease risk.
2023-05-29
Therapeutic products containing CD8+ and CD4+ T cells expressing CARs are effective at inducing remission in patients with cancer. How CD4+ CAR T cells contribute to the anti-tumor response has not been well established. A study uses syngeneic models and in vivo imaging to glean mechanistic insights into how CD4+ T cells target tumors.
2023-05-29
Malladi and colleagues show that inhibiting DRP1 limits mitochondrial plasticity, resulting in increased mitochondrial fusion, impaired fatty acid oxidation and reduced metastasis formation in breast cancer models.
2023-05-29
Bousso and colleagues show that IFN-γ production is the dominant tumor elimination mechanism exerted by CD4+ CAR T cells and define tumor cell sensitivity to IFN-γ as a determinant of CD4+ CAR T efficacy.
2023-05-29
Rebbeck, Huang and colleagues discuss recent insights into health inequities related to clinical next-generation sequencing for precision oncology, the contributing factors as well as recommendations for resolution looking ahead.
2023-05-29
Antigen presentation is fundamental to anti-tumor immunity, but our understanding of the physiological and molecular inputs to the process in different contexts remains limited. Two new studies explore the contribution of cell-intrinsic proteolytic mechanisms and cell-extrinsic hot and cold tumor microenvironments in shaping the antigenic landscape in lung cancer.
2023-05-26
What are the elements of a well-written, informative and widely accessible paper?
2023-05-26
Mitsiades and colleagues utilize functional genomics data in over 700 cancer cell lines, to identify genes with preferentially essential functions in multiple myeloma, which may represent targets for precision medicine strategies.
2023-05-26
Analysis of rare coding variants in the UK Biobank identifies eight genes associated with adult cognitive function, including KDM5B. Rare and common variant signals overlap and contribute additively to the phenotype.
2023-05-25
Analyses of whole-genome and RNA sequencing data from 2,733 African American, Puerto Rican and Mexican American individuals reveal ancestry-specific patterns in the genetic architecture of whole-blood gene expression.
2023-05-25
Single-cell multiomic and functional characterization of human pancreatic islets identifies two beta cell subtypes correlated with type 2 diabetes progression that exhibit distinct gene regulatory programs and electrophysiological phenotypes.
2023-05-25
The maturation of transfer RNAs requires the splicing of precursor tRNAs by specific endonucleases. New cryo-electron microscopy studies of the human splicing endonuclease bound to tRNAs shed light on how it cleaves and splices its substrates, explaining the function of eukaryote-specific enzyme subunits and rationalizing disease-associated mutations.
2023-05-25
The authors perform cryo-EM of pre-tRNA in complex with the human tRNA splicing endonuclease complex TSEN to understand the basis of pre-tRNA recognition and processing by TSEN.
2023-05-25
A systematic survey of the budding yeast proteome identifies hundreds of post-transcriptional regulators. Regulatory activity is enriched in RNA-binding proteins but lies outside the RNA-binding domains, often within intrinsically disordered regions.
2023-05-25
The authors provide cryo-EM reconstructions of human transfer RNA splicing endonuclease during substrate recognition, rationalizing disease-relevant mutations.
2023-05-25
Charles Rudin completed his MD, PhD, medical and oncology training at the University of Chicago, where he joined the department of medicine faculty in 1998. He directed the lung, esophageal and head and neck cancer program at Johns Hopkins University from 2003 to 2013, while also serving as associate cancer center director for clinical research. He joined Memorial Sloan Kettering Cancer Center in 2013 as chief of thoracic oncology, co-director of the Druckenmiller Center for Lung Cancer Research, and the Sylvia Hassenfeld Chair in Lung Cancer Research.
2023-05-25
Two studies describe kinase fusion proteins (KFPs) that regulate the perception and deception of wheat pathogens. These highlight the emergence of KFPs as plant immune regulators and emphasize the importance of crop wild relatives as a reservoir for resistance breeding and global food security.
2023-05-22
The resistance gene Lr9, which was introduced into bread wheat from the wild grass species Aegilops umbellulata, encodes an unusual tandem kinase fusion protein that confers wheat leaf rust resistance.
2023-05-22
The structure of synapses is critical for brain function. Yu et al. show how the synaptic vesicle protein synaptogyrin binds lipids and helps to ensure that vesicles are uniformly sized, allowing for precise storage of neurotransmitters.
2023-05-22
Here, the authors show that anchoring of the PRC2 complex to its own sites requires nuclear condensation of Ccc1, a H3K27me3 reader in the yeast Cryptococcus neoformans, suggesting a functional role for condensates in ensuring heterochromatin fidelity.
2023-05-22
The correction of errors during mitochondrial DNA replication by the proofreading function of DNA polymerase-γ is crucial for maintaining the integrity of the mitochondrial genome and the production of cellular energy. Using cryo-electron microscopy, several steps of the DNA polymerase-γ proofreading pathway have been revealed at near-atomic resolution.
2023-05-18
