Results 241 to 250 of about 1,023,640 (307)

Digoxin Alleviates Osteoarthritis by Inhibiting Macrophage Extracellular Trap Formation via Disruption of the LSP1‐SOD1 Interaction

Advanced Science, EarlyView.
Synovial macrophages in osteoarthritis upregulate LSP1, which directly binds and inhibits SOD1, triggering a redox imbalance that activates both NOX and mitochondrial ROS pathways. This cascade drives the release of macrophage extracellular traps (METs), causing chondrocyte damage and disease progression.
Yankai Pan, Xinzhe Feng, Chuanju Liu, Jianfei Tong, Zhi Li, Chenxu Liu, Yutong Dong, Chen Meng, Yihong Xu, Weidong Xu   +9 more
wiley   +1 more source

Dysregulated RNA splicing impairs regeneration in alcohol-associated liver disease. [PDF]

Nat Commun
Chembazhi UV, Bangru S, Dutta RK, Das D, Peiffer B, Natua S, Toohill K, Leona A, Purwar I, Bhowmik A, Goyal Y, Sun Z, Diehl AM, Kalsotra A.   +13 more
europepmc   +1 more source

SEC Mediates m6A Deposition and Transcription Pause Release to Drive Cell Identity Transition

Advanced Science, EarlyView.
The SEC promotes cell identity transitions by facilitating transcription pause release at key identity‐associated genes, including Klf4 and Myc during iPSC reprogramming and Nes and Tubb3 during ESC‐to‐neuroectodermal differentiation. During early iPSC reprogramming, this function additionally involves cooperation with METTL3‐associated m6A regulation.
Zhijing Zhang, Jingyi Xu, Yonghong Wu, Yitong Qu, Xinglin Hu, Yuchen Sun, Yanshuang Wu, Zhonghua Liu, Jiaqiang Wang, Lei Lei   +9 more
wiley   +1 more source

MYC-mediated transcriptional control of splicing factors promotes RNA splicing in activated B lymphocytes. [PDF]

Sci Rep
Li S, Yang C, Li J, Liu Z, Gong F, Ke X, Ruan GX, Huang H.   +7 more
europepmc   +1 more source

When Biology Meets Medicine: A Perspective on Foundation Models

Advanced Intelligent Discovery, EarlyView.
Artificial intelligence, and foundation models in particular, are transforming life sciences and medicine. This perspective reviews biological and medical foundation models across scales, highlighting key challenges in data availability, model evaluation, and architectural design.
Kunying Niu, Yuxing Wang, Limin Zou, Jing Huang   +3 more
wiley   +1 more source

Regulation of RNA splicing in endometrial tissue and its association with endometriosis. [PDF]

iScience
Yang F, Qi T, McRae AF, Rogers PAW, Montgomery GW, Mortlock S.   +5 more
europepmc   +1 more source

A Robust Deep Temporal Causal Discovery Platform for Single‐Cell Gene Regulatory Network Reconstruction

Advanced Intelligent Discovery, EarlyView.
scTIGER2.0 is a deep‐learning framework that infers gene regulatory networks from single‐cell RNA sequencing data. By integrating correlation, pseudotime ordering, deep learning and bootstrap‐based significance testing, it reduces false positives and reveals directional gene interactions.
Nishi Gupta, Madison Dautle, Shaoqiang Zhang, Yong Chen   +3 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Pangenome-wide identification of chloroplast RNA splicing and ribosome maturation (CRM) genes in eight Pyrus genomes indicated their involvement in multiple stresses. [PDF]

Sci Rep
Khalil A, Sadaqat M, Fatima K, Perveen K, Barasarathi J, Tahir Ul Qamar M, Munir S.   +6 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source