Results 111 to 120 of about 3,322,892 (202)

The ENU-Induced lil Mutation in Fog2 is a Splice Site Mutation

, 2013
(A) RT-PCR revealed a lengthened transcript in mice with the lil phenotype: the first band is a lil mouse, and the second band is a control mouse.(B) Sequencing Fog2 revealed a splice site mutation that causes the insertion of 85 bp of intronic sequence ...
Kate G Ackerman (10355), Randal P Babiuk (10363), Barbara R Pober (10362), Bruce J Herron (10356), David R Beier (10366), Hailu Huang (10358), Cherie Rao (10361), Sara O Vargas (10357), Sergei G Tevosian (10359), Lazaros Kochilas (10360), John J Greer (10365), Jonathan A Epstein (10364)   +11 more
core   +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

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

, 2015
We report on the clinical and molecular characterization of a female patient with early-onset epileptic encephalopathy, who was found to carry a de novo novel splice site mutation in SMC1A.
Lebon, S., Bienvenu, T., Jacquemont, S., Thierry Bienvenu, Lebrun, N., Jeannet, P.Y., Nicolas Lebrun, Pierre‐Yves Jeannet, Pierre Billuart, Billuart, P., Sébastien Lebon, Sébastien Jacquemont   +11 more
core   +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

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

Tumor‐Derived Exosomal circAP2B1 Induces M2 Macrophage Polarization by Enhancing Mitochondrial Homeostasis to Promote Esophageal Squamous Cell Carcinoma Progression

Advanced Science, EarlyView.
ESCC‐derived exosomal circAP2B1 promotes tumor progression by reprogramming mitochondrial metabolism via the ESRRA/KPNA1/MFN2 axis to induce M2 polarization of macrophages. ABSTRACT Esophageal squamous cell carcinoma (ESCC) remodels the immunosuppressive tumor microenvironment via exosome‐mediated intercellular communication.
Yiru Wang, Gang Feng, Youyu Wang, Ruihao Liang, Haixia Pan, Kai Lei   +5 more
wiley   +1 more source

ST5 - Revised Splice of ODP Site 162-982

, 2017
ST5 - Revised Splice of ODP Site 162 ...
Drury, Anna Joy, Westerhold, Thomas, Röhl, Ursula, David A Hodell (6959735), Hodell, David A, Thomas Westerhold (6960026), Anna Joy Drury (6885215), Ursula Röhl (6959540)   +7 more
core   +1 more source

METTL7A Downregulation Drives SLC1A5‐Mediated Glutamine Competition to Promote Tumor Proliferation and Suppress CD8+ T Cell Immunity in Gastric Cancer

Advanced Science, EarlyView.
GC cells enhance glutamine accumulation by upregulating SLC1A5 expression. This upregulation not only boosts GC cell proliferation, but also outcompetes CD8+ T cells for glutamine and suppresses their antitumor immunity. Mechanistically, METTL7A deficiency in GC induces SLC1A5 overexpression via an m6A‐dependent pathway and N‐glycosylation ...
Mingjun Sun, Shuwei Dang, Dazhi Zhou, Lixian Ding, Xun Sun, Wei Suo, Jirui Niu, Qingzhu Yang, Zhicheng Zhang, Yanyan Sun, Jinxing Li, Zhongsheng Chen, Tao Ban, Yingji Wang, Tianzhu Li, Ming Liu, Guodong Li   +16 more
wiley   +1 more source

A Novel Pak1 Activator Ameliorates ER Stress for HFpEF Therapy

Advanced Science, EarlyView.
Chronic metabolic stress is a major contributor to HFpEF progression. Under prolonged metabolic stress, Pak1 activity becomes impaired, contributing to disrupted ER proteostasis, cardiomyocyte apoptosis, fibrosis, and diastolic dysfunction. Mechanistically, Pak1 overexpression activates the ERK1/2–MNK1–eIF4E signaling axis, promotes translational ...
Honglin Xu, Hongyuan Zhang, Tayyiba Azam, Susanne S. Hille, Yingjuan Liu, Min Zi, Jiaqing Lang, He Yu, Yujia Cao, Bernard D. Keavney, Tamer M. A. Mohamed, Jessica M. Miller, Riham R. E. Abouleisa, Ming Xu, Elizabeth J. Cartwright, Oliver J. Müller, Ming Lei, Xin Wang   +17 more
wiley   +1 more source