Results 241 to 250 of about 2,805,831 (274)

Tau Aggregate Imaging and Transcriptomics of Alzheimer's Disease Brain at Different Stages of Disease

Advanced Science, EarlyView.
The protein aggregates and gene expression in the middle temporal gyrus (MTG) and somatosensory cortex (SOM) of the postmortem brains of 13 Alzheimer's disease patients were studied in detail, revealing that small hyperphosphorylated tau aggregates increase with Braak stage driven by microglial inflammation.
Elizabeth A. English, Dorothea Böken, Matthew W. Cotton, Matthew R. Cheetham, Johanna S. Jackson, Georg Meisl, John S. H. Danial, Paul M. Matthews, Nurun N. Fancy, David Klenerman   +9 more
wiley   +1 more source

Predicting Single‐Cell Perturbation Responses Across Biological Contexts With a Deep Generative Model Integrating Optimal Transport

Advanced Science, EarlyView.
Single‐cell perturbation responses are predicted across held‐out biological contexts using scPILOT, a query‐conditioned two‐stage latent response‐transfer framework. A shared latent representation supports cell‐level response estimation by latent optimal transport, followed by Leiden‐localized query‐specific transfer and adaptive weighting.
Jialiang Wang, Ziqi Liu, Zhengqian Zhang, Yikun Cao, Junjun Ren, Peng Cheng, Jingjing Tian, Lingyun Xie, Xin Lu, Zhanwei Du, Yongzhuang Liu   +10 more
wiley   +1 more source

Patient-to-patient phenotype matching enables rare disease gene prioritization beyond curated gene–phenotype associations

Cooperstein IB, Ward A, Kobren SN, Lebleu E, Moore B, Spillmann RC, Shashi V, Undiagnosed Diseases Network, Marth GT.   +8 more
europepmc   +1 more source

Multi‐Technique Integration Identifies O‐GlcNAc Transferase in Fibroblast‐Like Synoviocytes as a Therapeutic Target for Rheumatoid Arthritis

Advanced Science, EarlyView.
AI‑guided single‑cell transcriptomics identifies OGT as a key regulator enriched in rheumatoid arthritis fibroblast‑like synoviocytes (RA‐FLSs). Inflammatory stimuli activate the OGT–SAP130 axis, which modulates the H3K27ac/H3K27me3 balance and epigenetically silences BTG2, promoting aggressive transformation of RA‑FLSs.
Duoli Xie, Jie Huang, Chunhao Cao, Zhenchao Tang, Xingchen Li, Jianmin Guo, Xinxin Chen, Fang Wang, Dongyi He, Jie Li, Yu Du, Bing He, Jianhua Yao, Aiping Lu, Chao Liang   +14 more
wiley   +1 more source

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

Advanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee, Chanju Jung, Minjeong Kim, Narae Kim, Gue‐Ho Hwang, Soon‐Tae Lee, Kon Chu, Sang Kun Lee, Han‐Joon Kim, Jong‐Hee Chae, Sangsu Bae, Jangsup Moon   +11 more
wiley   +1 more source

AARS1‐Mediated H3K27 Lactylation Rewires Glycolysis to Sustain Aggressive and Recurrent Bladder Cancer

Advanced Science, EarlyView.
AARS1 drives PI3K–AKT–mTOR‐dependent glycolysis in bladder cancer, promoting lactate accumulation, increased lactylation, H3K27la enrichment at the HK2 promoter, and HK2 transcription. HK2 reinforces glycolysis, sustaining a metabolic–epigenetic program associated with tumor progression, recurrence, and metastasis.
Qin Yuan, Tianbao Song, Yipeng He, Sihan Xia, Yaoqiu Huang, Wenlin He, Qin Yi, Zefeng Wang, Peihan Wang, Chenbo Huang, Linzhi Li, Zhen Yin, Fan Cheng, Weimin Yu   +13 more
wiley   +1 more source

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Computational Disease Gene Prioritization: An Appraisal

Journal of Computational Biology, 2014
Abstract Bioinformatics aids in the understanding of the biological processes of living beings and the genetic architecture of human diseases. The discovery of disease-related genes improves the diagnosis and therapy design for the disease.
Nivit Gill, Shailendra Singh 0006, Trilok Chand Aseri   +2 more
exaly   +4 more sources

Transfer Learning for Gene Prioritization

2019 IEEE International Conference on Bioinformatics and Biomedicine (BIBM), 2019
Gene prioritization (gene ranking) plays an critical role in cancer diagnosis and therapy, and current algorithms rank genes by exploiting the pathogenic (cancer-causing) genes and interactions among genes. However, these algorithms are criticized for the low accuracy when the number of pathogenic genes is limited.
Zuheng Xia, Xiaoke Ma
openaire   +2 more sources

An Extensive Analysis of Disease-Gene Associations Using Network Integration and Fast Kernel-Based Gene Prioritization Methods

Artificial Intelligence in Medicine, 2014
ObjectiveIn the context of “network medicine”, gene prioritization methods represent one of the main tools to discover candidate disease genes by exploiting the large amount of data covering different types of functional relationships between genes ...
Alberto Paccanaro, Alfonso E. Romero, Matteo Re   +2 more
exaly   +2 more sources

Gene Prioritization Tools

2019
Marianna Milano
exaly   +2 more sources