Results 181 to 190 of about 91,518 (258)

A novel splice-site mutation in NFKB1 presenting as common variable immunodeficiency and postoperative hyperinflammation responsive to anti-IL-1 therapy. [PDF]

J Allergy Clin Immunol Pract
Eddens T, Lue J, Sojati J, Tomani M, Dede O, Kernan K, Kietz D, Larkin A, Chong H, Coffey K.   +9 more
europepmc   +1 more source

A Novel Splice-Site Mutation in MSH2 Is Associated With the Development of Lynch Syndrome. [PDF]

Front Oncol, 2020
Li J, Li Y, Ni H, Yang Z, Chen J, Li Y, Ding S, Jiang X, Wang M, Li L, Lv X, Ruan X, Jiang Q, Lei Z, Cheng Y, Huang J, Deng A.   +16 more
europepmc   +1 more source

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

Advanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu, Zhou Jiang, Lin Chen, Gowena Ling Yi Goh, Weijing Li, Qian He, Xintong Chen, Rui Li, Yuxuan Liu, Ning Li, Tao Zhou, Peng Xu   +11 more
wiley   +1 more source

A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly. [PDF]

Biochem Genet
Zhang C, Qiao F, Cheng Q, Luo C, Zhang Q, Hu P, Xu Z.   +6 more
europepmc   +1 more source

RBM25 Drives Hepatocellular Carcinoma Progression by Stabilizing YAP Through Regulating Oncogenic Splicing‐switch of MYPT1

Advanced Science, EarlyView.
This study establishes that the RBM25‐PRPF40A interaction modulates MYPT1 splicing, promoting the production of the oncogenic long isoform. This isoform stabilizes YAP by suppressing its phosphorylation and subsequent proteasomal degradation, ultimately accelerating tumor growth.
Wenjing Zhang, Lili Zhi, Tian Huang, Lingya Feng, Chaoqun Chen, Huanhuan Wei, Xiaolong Liu, Lei Chen, Jinrui Zhang, Ge Zhang, Baofeng Zhao, Rong Liu, Dan Chen, Yangfan Qi, Yang Wang   +14 more
wiley   +1 more source

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy. [PDF]

J Ophthalmic Vis Res
Molaei Ramshe S, Zardadi S, Alehabib E, Nourinia R, Jamshidi J, Soosanabadi M, Darvish H.   +6 more
europepmc   +1 more source

NS1‐Induced PARP1 Phase Transitions Prolongs Host Transcriptional Pausing to Promote Influenza A Virus Replication

Advanced Science, EarlyView.
After IAV infection, NS1 induces PARP1 phase transition, reducing molecular mobility in condensates, prolonging host transcriptional pause, aiding RdRp cap snatching, and promoting viral transcription. ABSTRACT Influenza A virus (IAV) commandeers host transcriptional machinery to replicate, but mechanisms remain elusive.
Shufeng Ma, Changyuan Kang, Xixian Liu, Lichao Yang, Mengyi Li, Yuting Ye, Jianfang Zhang, Yingjun Li, Guanghui Jin, Yang Liu, Xiaohong Chen, Kexin Wang, Zifeng Yang   +12 more
wiley   +1 more source

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, EarlyView.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source

Transfer RNA‐Derived Small RNA‐5’tiRNAGln Drives HNRNPC Phase Separation to Promote Breast Cancer Bone Metastasis by Regulating IGF1R

Advanced Science, EarlyView.
This study reveals that 5'tiRNA‐Gln interacts with hnRNPC to promote IGF1R liquid‐liquid phase separation, which drives ERK1/2 signaling activation, EMT, and breast cancer bone metastasis. These findings highlight a novel mechanism of breast cancer bone metastasis and potential therapeutic target in metastatic breast cancer.
Bingnan Wang, Dongsong Liu, Xiaozhi Fan, Jiale Fan, Xuesi liu, Yu Wang, Zixin Wang, Mo Cheng, Ping Zhou, Wangjun Yan   +9 more
wiley   +1 more source

CXCL3 Antagonism Reverses Systemic Antitumor Immune Memory Impairment Associated With High Tumor Burden and Sensitizes Anti‐PD‐1 Therapy

Advanced Science, EarlyView.
This study reveals that large tumors secrete more chemokine CXCL3, which recruits immunosuppressive neutrophils to the periphery, thereby impairing the activation and memory of systemic tumor‑reactive CD8+ T cells. CXCL3 antagonism restores systemic immune memory and enhances the antitumor efficacy of anti‑PD‑1 therapy, offering a potential strategy to
Ji Wang, Xinyu Tang, Zeju Li, Qi Qi, Chang Sun, Wen Sun, Weiya Zhang, Yue Yin, Ya Deng, Peiwen Ling, Yifan Xu, Guangshun Sun, Yi Ren, Hong Pan, Shui Wang, Wenbin Zhou   +15 more
wiley   +1 more source