Results 171 to 180 of about 394,574 (252)

Multi‐Tissue Genetic Regulation of RNA Editing in Pigs

Advanced Science, EarlyView.
This study presents the first multi‐tissue map of RNA editing and its genetic regulation in pigs. By integrating RNA editing profiles, edQTL mapping, GWAS, and cross‐species comparisons, this work establishes RNA editing as a distinct regulatory layer linking genetic variation to complex traits, highlighting its functional and evolutionary significance.
Xiangchun Pan, Wentao Gong, Xiaodian Cai, Jinyan Teng, Jiali Cai, Haonan Zeng, Wondossen Ayalew, Qingpeng Shen, Zhanming Zhong, Yifei Wang, Wenjing Zhang, Yuhan Tian, Dantong Xu, Yahui Gao, Hongwei Yin, Yuebo Zhang, Jiahui Hou, Tianru Zhou, Jiaqi Li, Lingzhao Fang, Xiaolong Yuan, Zhe Zhang   +21 more
wiley   +1 more source

Interdependent Regulation of Alternative Splicing by Serine/Arginine-Rich and Heterogeneous Nuclear Ribonucleoprotein Splicing Factors. [PDF]

Genes (Basel)
Holmes ME, Hertel KJ.
europepmc   +1 more source

Context‐Dependent Role of GDF15: GDF15+ Tumor‐Associated Macrophages Suppress OSCC Progression by Enhancing Phagocytosis

Advanced Science, EarlyView.
This study identifies GDF15+ TAMs as a cell subset mediating tumor regression after immunotherapy. Macrophage‐intrinsic GDF15 enhances phagocytosis and antigen cross‐presentation to CD8+ T cells through the NF‐κB signaling pathway, thereby inhibiting tumor progression.
Xinyu Zhou, Zhihang Zhou, Houyu Ju, Chaoyang Guo, Fangxing Zhu, Yiyi Zhang, Xu Chen, Tongchao Zhao, Laiping Zhong, Jingzhou Hu   +9 more
wiley   +1 more source

Analyses of <i>ATP7B</i> mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics. [PDF]

Hum Mutat
Steiner Mrázová L, Vrbacká A, Majer F, Stránecký V, Nosková L, Záhoráková D, Májovská J, Bitar I, Klempíř J, Šaligová J, Majlingová S, Giertlová M, Drenčáková P, Harvanová D, Solařová P, Brůha R, Dušek P, Kmoch S, Sikora J, Jedličková I.   +19 more
europepmc   +1 more source

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

SNRPD2-mediated regulation of DDX39B splicing promotes endometrial cancer progression by suppressing the activation of CTSC cryptic exons. [PDF]

Cell Death Dis
Li Y, Chen Z, Liu Y, Gao Y, Pu Y, Gao Q, Gao F, Yang N, Li P.   +8 more
europepmc   +1 more source

Ascites circRNA ASCOR Drives Platinum Resistance of High‐Grade Serous Ovarian Cancer by Facilitating RPA1 Nuclear Translocation

Advanced Science, EarlyView.
High‐grade serous ovarian carcinoma (HGSOC) is plagued by platinum resistance, with malignant ascites closely linked to poor outcomes. Here, we identify ASCOR, a circRNA enriched in ascites small extracellular vesicles (sEVs) from platinum‐resistant HGSOC patients, as a predictor of poor survival. ASCOR enhances platinum resistance in vitro and in vivo
Hanyuan Liu, Chenchen Zhu, Xuelin Yao, Yi Liu, Jing Zhu, Yuebo Li, Hanjie Xu, Cheng Peng, Ge Shan, Liang Chen, Ying Zhou   +10 more
wiley   +1 more source

Successful treatment with tepotinib followed by pembrolizumab in pulmonary pleomorphic carcinoma harbouring a <i>MET</i> exon 14 skipping mutation: A case report. [PDF]

Oncol Lett
Tanaka S, Saida Y, Ando Y, Arinami J, Yamazaki R, Wakabayashi T, Watanabe H, Kushiro K, Suzuki R, Yanagimura N, Arita M, Sato M, Tanaka T, Nozaki K, Watanabe S, Kondo S, Umezu H, Kikuchi T.   +17 more
europepmc   +1 more source

CsdA‐LaeB Regulatory Hub Contributes to Aspergillus fumigatus Virulence via Fumiquinazoline C Biosynthesis

Advanced Science, EarlyView.
This study identifies a conserved CsdA‐LaeB hub in Aspergillus fumigatus that regulates secondary metabolite fumiquinazoline C (FqC). Disrupting this hub enhances FqC production and virulence, shedding new light on the post‐transcriptional regulatory logic linking secondary metabolism to pathogenicity and offering alternative strategies for diagnostic ...
Zili Song, Hongjiao Zhang, Leixin Ye, Yuxin Lei, Linqi Wang, Xiao Liu, Nayanna M. Mercado Soto, Nancy P. Keller, Berl R. Oakley, Can Zhao, Michael Bromley, Hongwei Liu, Lei Cai, Koon Ho Wong, Wen‐Bing Yin   +14 more
wiley   +1 more source