5,115 results match your criteria: "Center for Bioinformatics[Affiliation]"

Collapsible tree: interactive web app to present collapsible hierarchies.

Bioinformatics

November 2024

Cancer Data Science Lab, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States.

Motivation: A crucial component of intuitive data visualization is presenting a hierarchical tree structure with interactive functions. For example, single-cell transcriptomics studies may generate gene expression values with developmental trajectories or cell lineage structures. Two common visualization methods, t-Distributed Stochastic Neighbor Embedding (t-SNE) and Uniform Manifold Approximation and Projection (UMAP), require two separate figures to depict the distribution of cell types and gene expression data, with low-dimension projections that may not capture the hierarchical structures among cells.

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Comprehensive evaluation and prediction of editing outcomes for near-PAMless adenine and cytosine base editors.

Commun Biol

October 2024

State Key Laboratory of Common Mechanism Research for Major Diseases; Center for Bioinformatics, National Infrastructures for Translational Medicine, Institute of Clinical Medicine & Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Article Synopsis
  • Base editors allow for precise changes in genetic material without causing double-strand breaks, making them useful for disease modeling and gene therapy, but their use is limited due to the need for specific PAM sequences.
  • Researchers developed four near-PAMless base editor versions that broaden the range of target sequences and found that both the PAM and surrounding sequences influence editing efficiency.
  • The team created BEguider, a deep learning model that predicts editing results for these new editors and provided experimental editing data on 20,541 ClinVar sites, showing that previously difficult-to-edit variants can now be addressed accurately; the predictive tool and data are available for public use.
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  • * Key findings revealed that young women (20-35 years) show higher expression of certain protective genes, like selenoproteins and heat shock proteins, indicating better resistance to oxidative stress.
  • * The study identified age-related differences in gene expression (e.g., BID and CD99) that suggest middle-aged women may face higher inflammation risk, with implications for developing new diagnostics and treatments for healthy aging.
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Generation of human expandable limb-bud-like progenitors via chemically induced dedifferentiation.

Cell Stem Cell

December 2024

MOE Key Laboratory of Cell Proliferation and Differentiation, School of Life Sciences and MOE Engineering Research Center of Regenerative Medicine, School of Basic Medical Sciences, State Key Laboratory of Natural and Biomimetic Drugs, Peking University Health Science Center, Peking-Tsinghua Center for Life Sciences, Peking University, Beijing, China; State Key Laboratory of Chemical Oncogenomics, School of Chemical Biology and Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, China; Changping Laboratory, Beijing, China. Electronic address:

In certain highly regenerative animals, cellular dedifferentiation occurs after injury, allowing specialized cells to become progenitor cells for regeneration. However, this capacity is restricted in human cells due to reduced plasticity. Here, we introduce a chemical-induced dedifferentiation approach that reverts the differentiated cells to a progenitor-like state, conferring the features of human limb bud cells from human adult somatic cells.

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Aberrant Mitochondrial tRNA Genes Appear Frequently in Animal Evolution.

Genome Biol Evol

November 2024

Bioinformatics Group, Department of Computer Science & Interdisciplinary Center for Bioinformatics, Leipzig University, Härtelstraße 16-18, Leipzig D-04107, Germany.

Mitochondrial tRNAs have acquired a diverse portfolio of aberrant structures throughout metazoan evolution. With the availability of more than 12,500 mitogenome sequences, it is essential to compile a comprehensive overview of the pattern changes with regard to mitochondrial tRNA repertoire and structural variations. This, of course, requires reanalysis of the sequence data of more than 250,000 mitochondrial tRNAs with a uniform workflow.

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Article Synopsis
  • Phenotypic differences between species are largely driven by their proteomic diversity, which is influenced by the roles proteins play in various biological processes.
  • The conservation of individual proteins usually aligns with the evolutionary relationships among species, but the diversity of biological pathways may show unexpected patterns based on the species' ecological histories.
  • This study performed a detailed analysis of proteomic diversity between humans and 54 eukaryotes to create a resource for selecting suitable model organisms for human biology research, considering conserved and unique pathways.
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Both lanthanide-containing and fluorine-containing nanomaterials present challenging targets for microbial biosynthesis because these elements are toxic to most bacteria. Here, we overcome these challenges by using an Antarctic Shewanella baltica strain that tolerates these elements and report the first biosynthesis of lanthanide-doped fluoride nanoparticles (NPs) from them. NaYF NPs doped with Er/Yb are prototypical lanthanide-based upconverting nanoparticles (UCNPs) with upconverted luminescence at visible wavelengths under infrared excitation.

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  • Two-pore domain potassium (K2P) channels are crucial for regulating how cells respond to stimuli and function in the nervous system, and their selectivity filter structure is key to their ability to selectively allow potassium ions to pass.
  • The nematode has a large family of K2P channels with 47 genes, and this study focuses on the UNC-58 channel which is uniquely permeable to sodium ions due to a specific cysteine in its selectivity filter.
  • Through various experimental methods, the researchers found that UNC-58 causes depolarization in muscles and sensory neurons, leading to hypercontracted outcomes in gain-of-function mutants, highlighting the necessity of functional studies to understand how variations in selectivity filter sequences affect
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Gene expression prediction from histology images via hypergraph neural networks.

Brief Bioinform

September 2024

Department of Health Outcomes and Biomedical Informatics, College of Medicine, University of Florida, FL 32611, United States.

Spatial transcriptomics reveals the spatial distribution of genes in complex tissues, providing crucial insights into biological processes, disease mechanisms, and drug development. The prediction of gene expression based on cost-effective histology images is a promising yet challenging field of research. Existing methods for gene prediction from histology images exhibit two major limitations.

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Long-range alternative splicing contributes to neoantigen specificity in glioblastoma.

Brief Bioinform

September 2024

State Key Laboratory of Protein and Plant Gene Research, Laboratory of Bioinformatics and Genomic Medicine, Institute of Molecular Medicine, College of Future Technology, Peking University, No. 5 Yiheyuan Road, Haidian District, Beijing 100871, China.

Article Synopsis
  • * Despite a focus on known alternatively-spliced transcripts, non-annotated linear transcripts linked to circular RNAs (circRNAs) remain underexplored, which may have significant implications for cancer treatment.
  • * The study identified 1057 unique long-range alternatively-spliced transcripts in GBM tissues, suggesting they may serve as potential immunotherapy targets due to their specific immunogenic properties.
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Background: Genetics has the potential to inform biologically relevant drug treatment and repurposing which may ultimately improve patient care. In this study, we combine methods which leverage the genetics of psychiatric disorders to prioritize potential drug targets and compounds.

Methods: We used the largest available genome-wide association studies, in European ancestry, of four psychiatric disorders [i.

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Article Synopsis
  • - The Sec61 translocon is critical for transporting newly formed proteins into the endoplasmic reticulum or embedding them in its membrane.
  • - Recent discoveries in structural biology have provided insight into how Sec61 interacts with other proteins and have identified small molecules that can inhibit its function.
  • - Some of these molecules can selectively block the transport of specific proteins, suggesting potential strategies for targeting Sec61 in drug development while minimizing harmful effects.
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Unraveling the shared genetics of common epilepsies and general cognitive ability.

Seizure

November 2024

Centre for Precision Psychiatry, University of Oslo, Oslo, Norway; Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway. Electronic address:

Article Synopsis
  • Cognitive impairment is common in individuals with epilepsy, and this study explores the genetic links between different epilepsy subtypes and cognitive ability, revealing that genetic factors play a significant role.
  • Researchers analyzed data from 269,867 individuals regarding cognitive ability and 27,559 cases of common epilepsies, using various statistical tools to identify the genetic variants involved.
  • The findings indicate that cognitive ability has a much larger number of genetic variants compared to epilepsy types, and they identified 66 genetic loci shared between cognitive function and different epilepsy subtypes, suggesting important gene expressions in brain regions affected by both conditions.
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Transient Notch Activation Converts Pluripotent Stem Cell-Derived Cardiomyocytes Towards a Purkinje Fiber Fate.

bioRxiv

September 2024

Department of Cell, Developmental, and Regenerative Biology, Mount Sinai, New York, NY 10029, USA.

Article Synopsis
  • Cardiac Purkinje fibers are crucial for coordinating heart contractions and understanding their biology is limited due to challenges in creating these cells from human stem cells.
  • Researchers analyzed single-cell data from mouse hearts to identify key signaling pathways, such as Notch signaling, that are involved in the formation of Purkinje fiber cells.
  • Activating Notch signaling in human embryonic stem cell-derived cardiomyocytes not only transformed their shape and electrical properties to resemble Purkinje fibers but also altered their gene expression, resulting in lower contractile force and differing responses to anti-arrhythmogenic drugs.
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The Best-Worst Job in the World: When Reality Meets the Brain.

J Mol Neurosci

October 2024

Faculty of Medical and Health Sciences, Edmond J Safra Center for Bioinformatics, Innovation Labs (TILabs), Sagol School of Neuroscience, Tel Aviv University, 6997801, Tel Aviv, Israel.

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Article Synopsis
  • * The study found that preschoolers with SCD living far from supermarkets or lacking transportation had higher rates of acute care utilization, while those from households with a bachelor's degree experienced less.
  • * Research highlights the need to consider how factors like food access and family education levels affect health outcomes for SCD patients, suggesting that addressing SDoH could improve care for these children.
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Recursive dynamics of GspE through machine learning enabled identification of inhibitors.

Comput Biol Chem

December 2024

Computational Biology Lab, National Center for Bioinformatics (NCB), Quaid-i-Azam University, Islamabad 45320, Pakistan. Electronic address:

Article Synopsis
  • The Type II secretion system (T2SS) in pathogenic bacteria like Achromobacter xylosoxidans is critical for virulence, with the ATPase GspE playing a vital role in powering this system.
  • A machine learning approach was used to screen drug libraries, identifying potential inhibitors targeting GspE through molecular docking and extensive dynamics simulations.
  • The study highlighted Asinex-BAS00263070-28551 as a promising drug candidate, which interacts effectively with GspE, but further experimental validation is necessary to confirm its therapeutic potential.
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Predicting genome-wide tissue-specific enhancers via combinatorial transcription factor genomic occupancy analysis.

FEBS Lett

January 2025

National Center for Bioinformatics, Program of Comparative and Evolutionary Genomics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Enhancers are non-coding cis-regulatory elements crucial for transcriptional regulation. Mutations in enhancers can disrupt gene regulation, leading to disease phenotypes. Identifying enhancers and their tissue-specific activity is challenging due to their lack of stereotyped sequences.

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Two Gram-stain-positive bacterial strains, EXRC-4A-4 and RC-2-3, were isolated from soil samples collected at Union Glacier, Antarctica. Based on 16S rRNA gene sequence similarity, strain EXRC-4A-4 was identified as belonging to the genus , and strain RC-2-3 to the genus . Further genomic analyses, including average nucleotide identity and digital DNA-DNA hybridization, suggested that these strains represent new species.

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Comprehensive Proteomic Analysis of Dysferlinopathy Unveiling Molecular Mechanisms and Biomarkers Linked to Pathological Progression.

CNS Neurosci Ther

October 2024

Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience, and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, China.

Article Synopsis
  • This study aimed to enhance the understanding of dysferlinopathy by using high-resolution proteomics to analyze muscle biopsies and link protein expression changes with musculoskeletal pathology.
  • Researchers examined tissue samples from 15 dysferlinopathy patients and age-matched controls, employing advanced techniques like TMT-labeled LC-MS/MS for proteomic profiling and various network analyses.
  • The findings revealed 1600 differentially expressed proteins associated with dysferlinopathy, highlighting dysregulated pathways related to metabolism, immune response, and muscle function, and identifying key proteins linked to disease severity and muscle damage.
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  • The study shows that having too much visceral fat (VAT) is linked to heart disease and diabetes, while having more subcutaneous fat (SAT) might not be as bad if VAT is not high.
  • Scientists fed mice a high-fat diet to see how obesity affects specific fat types and found that obesity changes the way fat genes work.
  • They discovered that certain genes behave differently in SAT and VAT when mice are obese, and these genes could help us understand more about fat and health problems.
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Objective: The progression of long-term diabetes complications has led to a decreased quality of life. Our objective was to evaluate the adverse outcomes associated with diabetes based on a patient's clinical profile by utilizing a multistate modeling approach.

Methods: This was a retrospective study of diabetes patients seen in primary care practices from 2013 to 2017.

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This study introduces a pioneering approach to automate the creation of search schemes for lossless approximate pattern matching. Search schemes are combinatorial structures that define a series of searches over a partitioned pattern. Each search specifies the processing order of these parts and the cumulative lower and upper bounds on the number of errors in each part of the pattern.

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Evolution of the regulatory subunits for the heteromeric acetyl-CoA carboxylase.

Philos Trans R Soc Lond B Biol Sci

November 2024

Division of Biochemistry and Interdisciplinary Plant Grou, C.S. Bond Life Sciences Center, University of Missouri, Columbia, MO 65211, USA.

The committed step for de novo fatty acid (FA) synthesis is the ATP-dependent carboxylation of acetyl-coenzyme A catalysed by acetyl-CoA carboxylase (ACCase). In most plants, ACCase is a multi-subunit complex orthologous to prokaryotes. However, unlike prokaryotes, the plant and algal orthologues are comprised both catalytic and additional dedicated regulatory subunits.

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