Results 121 to 130 of about 1,070 (211)

PolyG Fibrils Coalesce Into Nuclear Ribbons That Engage Proteostasis Machinery in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
In NIID, expanded NOTCH2NLC repeats give rise to nuclear polyG inclusions. Tracer‐guided in situ cryo‐electron tomography enables cross‐scale structural analysis from mouse brain to native neuronal nuclei, revealing dense‐core/peripheral‐halo inclusions built from compact polyG ribbons.
Hui Dong, Yongcheng Pan, Zhiyao Tang, Yuxuan Yao, Guicong Zhang, Junpu Wang, Haonan Xiao, Yun Tian, Beisha Tang, Dan Li, Qiang Guo, Ruijun Tian, Qiong Liu, Cong Liu   +13 more
wiley   +1 more source

SPSB1 Promotes Subcutaneous Adipose Hyperplasia in Facial Port‐Wine Stains by Controlling HDAC1 Degradation and Stability Through Two Distinct Proteolytic Pathways

Advanced Science, EarlyView.
In PWS‐ASPCs, FOSL1 drives the expression of SPSB1. SPSB1, as part of the ESC complex, further binds to HDAC1 and promotes K29‐linked and K48‐linked polyubiquitination of HDAC1. These modifications facilitate the degradation of HDAC1 through the ALP and UPS pathways, respectively.
Hongrui Chen, Bin Sun, Yajing Qiu, Chen Hua, Xiaoxi Lin, Wei Gao   +5 more
wiley   +1 more source

Transposable Element–Driven PIEZO Mutation Enhances Locust Flight in Plateau Hypoxia

Advanced Science, EarlyView.
Why transposable elements (TEs) persisted or expanded in genomes remains a mystery. Using integrated analysis of TE macro‐ and microevolution in locusts, our results showed that thousands of TE insertions promoted widespread adaptive variation. Subfamilies of candidate adaptive TEs amplified and reshaped species‐level genomic architecture.
Xuanzhao Li, Ying Liu, Longsheng Xing, Xianliang Huang, Yingming Sun, Lei Yue, Yuze Zhang, Huilong Du, Bing Chen   +8 more
wiley   +1 more source

Pasta, a Versatile Transcriptomic Clock, Maps the Chemical and Genetic Determinants of Aging and Rejuvenation

Advanced Science, EarlyView.
Pasta is a transcriptomic aging clock built on an age‐shift learning framework and trained on 17 000 samples across 21 datasets. It accurately predicts relative biological age across tissues, platforms, and species, captures stemness‐to‐senescence transitions, and identifies age‐modulatory perturbations.
Jérôme Salignon, Maria Tsiokou, Patricia Marqués, Enriqueta Rodríguez‐Diaz, Hazel Ang, Federico Pietrocola, Christian G. Riedel   +6 more
wiley   +1 more source

Splice-Site Mutation [PDF]

, 2019
openaire   +1 more source

The IRE1‐XBP1s Axis Drives Inflammatory Osteolysis by Regulating a 5‐HT Dependent Endogenous Anti‐Autophagy Mechanism

Advanced Science, EarlyView.
A previously unrecognized IRE1‐XBP1s‐Slc6a4 signaling axis links endoplasmic reticulum stress to serotonin metabolism, autophagy, and inflammatory osteoclastogenesis. By promoting intracellular serotonin uptake and reducing endogenous 3‐methyladenine accumulation, this pathway accelerates inflammatory bone destruction and provides a promising ...
Pengchao Yang, Binxiang Zhu, Yuzhi He, Yang Tian, Honglei Kang, Shian Hu, Pengju Wang, Yong Xu, Zhuowei Lei, Peijun Qi, Hao Yang, Yang Lin, Yimin Dong, Feng Li, Hanfeng Guan   +14 more
wiley   +1 more source

Genetic Ablation and Multi‐Omics Profiling Reveal CEP55 as a Key Driver of Tumorigenesis in Diverse Cancer Models

Advanced Science, EarlyView.
Genetic ablation of Cep55 in Pten‐deficient mouse models delays tumorigenesis. Integrated multi‐omics analyses (proteomics, phosphoproteomics, and spatial transcriptomics) reveal that CEP55 regulates oncogenic signaling (RAS/ERK, PI3K/AKT), integrin/FAK‐mediated adhesion, extracellular matrix (ECM) remodeling, and endocytosis.
Behnam Rashidieh, Yuanhao Yang, Amanda Louise Bain, Phillip Theron, Catharina Vosloo, Sahar Keshvari, Parinaz Ahangar, Brydie Bowden, Simon M. Tria, Ben B. Wang, Sandra Isenmann, Nicholas J. Westra van Holthe, Zherui Xiong, Hani Vu, Sowmya Sharma, Asmerom Sengal, J. Alejandro Lopez, John Finnie, Antonella Papa, Pascal H.G. Duijf, Quan Nguyen, Pirjo M. Apaja, Kum Kum Khanna   +22 more
wiley   +1 more source

Deltacoronavirus Modulates circRNA cGLIS3 Metabolism to Evade Host Antiviral Response

Advanced Science, EarlyView.
This study reveals that both deltacoronavirus nucleocapsid protein and host RNA binding protein IGF2BP2 promote circular RNA GLIS3 (cGLIS3) biogenesis by binding to GLIS3 pre‐mRNA. The m6A modification‐mediated cGLIS3‐IGF2BP2 interaction weakens RNase L‐mediated degradation of cGLIS3 while facilitates a ubiquitin‐dependent degradation of IGF2BP2, thus ...
Liuyang Du, Liping Wang, Sujing Diao, Juan Li, Lei Zhao, Yan Yan, Haimin Li, Weiren Dong, Wei Wu, Jinyan Gu, Jiyong Zhou   +10 more
wiley   +1 more source

Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations

Acta Dermato Venereologica, 2014
Dimitra, Kiritsi, Laura, Huilaja, Claus-Werner, Franzke, Nina, Kokkonen, Chiara, Pazzagli, Agnes, Schwieger-Briel, Markku, Larmas, Leena, Bruckner-Tuderman, Cristina, Has, Kaisa, Tasanen   +9 more
openaire   +3 more sources

A Personalized Haplotype‐Resolved Near‐Gapless Genome Framework for Somatic Variant Discovery in Hepatocellular Carcinoma

Advanced Science, EarlyView.
A patient‐specific, haplotype‐resolved genome framework improves detection and interpretation of somatic variants in hepatocellular carcinoma. Using multi‐platform sequencing, the personalized assembly resolves complex regions including centromeres and MHC/HLA loci, enhances structural variant discovery, and links regulatory alterations to allele ...
Jiazheng Lin, Yao Xiao, Shuangzi Luo, Yifan Li, Wenfei Zhang, Xiaoyu Zhang, Xinyi Wang, Di Wu, Jieru Hong, Yongkun Luan, Xun Huang, Yixiu Wang, Ningbo Wu, Xiaoxiao Hu, Fei Zhao, Wei Li, Xiao Luo, Bi Shi   +17 more
wiley   +1 more source