Results 191 to 200 of about 143,230 (264)

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 multicenter study reveals a novel pathogenic splice-site founder variant in OTOF. [PDF]

Hum Genomics
Brownstein Z, Kamal L, Mishan-Montefiori S, Hoffman Y, Fine D, Hirsch Y, Weiden T, Birnbaum R, Mor-Shaked H, Davidov B, Yaron Y, Avraham KB.   +11 more
europepmc   +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

Correction of MYBPC3 c.772G>A Splice-Site Mutation by Base Editing Ameliorates Hypertrophic Cardiomyopathy in Humanized Mice. [PDF]

Circ Res
Zhang Y, Jiao S, Yang G, Wang J, Yang X, Li Z.   +5 more
europepmc   +1 more source

circZNF148 Drives Glucose Metabolism Reprogramming to Enhance Metastasis and Immune Evasion via HK1 Stabilization in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
CircZNF148 stabilizes HK1 through deubiquitinase recruitment, thereby enhancing glycolysis and lactate production. Elevated lactate promotes PD‑L1 lactylation and membrane accumulation while suppressing CD8+ T‐cell cytotoxicity, collectively facilitating immune evasion and malignant progression in TNBC.
Yuhan Jin, Wenjing Zhao, Lei Wang, Jianing Wang, Keying Zhao, Dan Luo, Yifei Wang, Yuxia Yang, Jingze Yang, Yaming Li, Tong Chen, Dianwen Han, Zekun Wang, Xiaoyan Li, Bing Chen, Lijuan Wang, Yiran Liang, Qifeng Yang   +17 more
wiley   +1 more source

"Hypomorphic splice-site variants in the CHM gene: implications for patient selection and endpoint design in choroideremia gene therapy trials". [PDF]

Ann Med Surg (Lond)
Amjad A, Ali MR, Ali U, Mahato RK.
europepmc   +1 more source

Livestock Multi‐Omics Integration: A Systematic Framework From Statistical Association to Causal Interpretation

Advanced Science, EarlyView.
A three‐tier livestock multi‐omics framework resolves four typical analytical pitfalls. Moving from statistical association through machine learning preprocessing to triple‐modal causal inference, it converts omics results into genomic selection and gene editing strategies to achieve One Health, underpinned by multi‐omics data, multimodal sequencing ...
Jiying Wen, Zhongyu Wang, Jieping Huang, Fen Li, Ningbo Chen, Yun Ma   +5 more
wiley   +1 more source

Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B. [PDF]

JCI Insight
Iwasaki Y, Reyes M, Molin A, Muurinen M, Kottler ML, Bastepe M, Jüppner H.   +6 more
europepmc   +1 more source

EP300‐Mediated MTF1‐K218 Lactylation Buffers AR‐Driven Copper Overload to Suppress Cuproptosis in Castration‐Resistant Prostate Cancer

Advanced Science, EarlyView.
Androgen receptor (AR) drives copper accumulation in prostate cancer while inducing MTF1 to buffer copper toxicity. EP300‐mediated lactylation of MTF1 at K218 promotes its nuclear translocation and metallothionein expression, sequestering cytosolic copper and preventing mitochondrial cuproptosis.
Kai Li, Yong Wei, Yongshan Li, Yuxiang Dong, Jiancheng Lv, Mingzhi Yuan, Ao Shen, Fuyang Liu, Yetao Zhang, Youjian Li, Ruixi Yu, Yang Liu, Tong Zhao, Jun Wang, Kai Zhou, Zongyao Fan, Manning Wang, Jun Xu, Mulong Du, Min Gu, Bing Yao, Qingyi Zhu   +21 more
wiley   +1 more source

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 <i>ATM</i> Splice-Site Variants. [PDF]

Int J Mol Sci
Llinares-Burguet I, Sanoguera-Miralles L, Bueno-Martínez E, Esteban-Sanchez A, Romano-Medina D, Ramadane-Morchadi L, García-Álvarez A, Pérez-Segura P, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA.   +12 more
europepmc   +1 more source