Results 301 to 310 of about 11,580,920 (364)

From Code to Life: The AI‐Driven Revolution in Genome Editing

Advanced Science, EarlyView.
This review explores AI‐driven advancements in genome editing, focusing on CRISPR optimization, enhanced targeting precision, reduced off‐target effects, and novel tool design. It addresses ethical challenges, data biases, and highlights future prospects in precision medicine, agriculture, and synthetic biology.
Zhidong Li, Wasi Ullah Khan, Genxiang Bai, Chao Dong, Jungang Wang, Youpeng Zhang, Chong Wang, Hongbin Zhang, Wenyi Wang, Ming Luo, Fei Chen   +10 more
wiley   +1 more source

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants. [PDF]

J Transl Med
Luo X, Xiao B, Liang L, Zhang K, Xu T, Liu H, Liu Y, Yu Y, Fan Y.   +8 more
europepmc   +1 more source

Metabolic Stress‐Induced Choline Kinase α (CHKA) Activation in Endothelial Subpopulation Contributes to Diabetes‐Associated Microvascular Dysfunction

Advanced Science, EarlyView.
This study uncovers CHKA as a pivotal driver of vascular dysfunction in diabetic retinopathy and highlights its role in endothelial dysfunction through NAD⁺‐SIRT1‐Notch signaling. Single‐cell and functional analyses, combined with clinical and genetic validation, suggest CHKA as a promising therapeutic target for the prevention and treatment of ...
Ling Ren, Linyu Zhang, Yun Bai, Chang Huang, Xiaosa Li, Fanfei Ma, Wan Mu, Mudi Yao, Chang Jiang, Xiangjun Chen, Qin Jiang, Biao Yan   +11 more
wiley   +1 more source

Efficient reinterpretation of rare disease cases using Exomiser. [PDF]

NPJ Genom Med
Vestito L, Jacobsen JOB, Walker S, Cipriani V, Harris NL, Haendel MA, Mungall CJ, Robinson P, Smedley D.   +8 more
europepmc   +1 more source

Small RNA Toxin‐Assisted Evolution of GC‐Preferred ErCas12a for Enhanced Genome Targeting Range

Advanced Science, EarlyView.
ErCas12a is engineered to target GC‐rich PAMs using a small RNA toxin‐aided positive screening system. The resulting variant, enErCas12a, exhibits an expanded PAM profile and facilitates efficient gene editing in both bacterial and mammalian cells, while preserving high targeting specificity for both canonical and non‐canonical PAM targets.
Zehua Chen, Junyuan Xue, Ziying Wang, Jinyuan Sun, Yinglu Cui, Tong Zhu, Huaiyi Yang, Ming Li, Bian Wu   +8 more
wiley   +1 more source

Facile Synthesis of Nanolayered Manganese Oxide for the Efficient and Selective Removal of Strontium(II) from Nuclear Wastewater

Advanced Science, EarlyView.
A novel nanolayered manganese oxide material (Na‐NLMO) is prepared using a rapid and straightforward method for efficient adsorption of Sr(II) in both simulated waste liquid and natural water systems. Its excellent adsorption performance of Na‐NLMO could be attributed to the accessible layered structure and negatively charged framework.
Fan Wang, Qi Zheng, Wenya Tai, Qiang Wu, Xinglei Li, Yehuizi Wu, Ningchao Zheng, Shunyan Ning, Deqian Zeng, Hiroshi Watabe, Yan Wu, Hai Li, Yuezhou Wei, Xiangbiao Yin   +13 more
wiley   +1 more source

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease. [PDF]

HGG Adv
Malhotra A, Thorpe E, Coffey AJ, Rajkumar R, Adjeman J, Naa Adjeley Adjetey ND, Aglobitse S, Allotey F, Arsov T, Ashong J, Badoe EV, Basel D, Brew Y, Brown C, Bosfield K, Casas K, Cornejo-Olivas M, Davis-Keppen L, Freed A, Gibson K, Jayakar P, Jones MC, Kawome M, Lumaka A, Maier U, Makay P, Manassero G, Marbell-Wilson M, Marcuccilli C, Masser-Frye D, McCarrier J, Mills HS, Montoya JB, Mubungu G, Ngole M, Perez J, Pivnick E, Duenas-Roque MM, Pena Salguero H, Serize A, Shinawi M, Sirchia F, Soler-Alfonso C, Taylor A, Thompson L, Vance G, Vanderver A, Vaux K, Velasco D, Wiafe S, Illumina Laboratory Services Interpretation and Reporting Team, Taft RJ, Perry DL, Kesari A.   +53 more
europepmc   +1 more source

Single‐Cell and Spatial Transcriptomic Profiling of Penile Squamous Cell Carcinoma Reveals Dynamics of Tumor Differentiation and Immune Microenvironment

Advanced Science, EarlyView.
This study uses single‐nucleus RNA sequencing and spatial transcriptomics to investigate penile squamous cell carcinoma (PSCC). It reveals that PSCC tumor cells mimic normal penile epithelium differentiation, independent of HPV status. The Tum_1 subtype shows basal stem‐like characteristics and promotes invasiveness. HPV‐positive basal stem‐like tumors
Hongjian Song, Zhichao Tong, Guixiang Xie, Yaowei Li, Yubo Zhao, Fengpu Fan, Zongzheng Yang, Qing Shi, Qian Zhang, Feng Wen, Hongxue Meng, Haonan Li, Pengyu Guo, Dayong Hou, Zhenwei Zhang, Zhihao Yin, Ziyi Liu, Jianwei Wang, Peng Zhang, Peng Dai, Changfu Li, Lichen Teng, Yangyang Xu, Dexin Ding, Tao Xu, Jianzhang Li, Yongsheng Chen, Yu Qiu, XiaoWei Hu, Wentao Liu, Liang Wu, Roman Nawroth, Guibo Li, Hang Su, Ziqing Deng, Ziqi Wang, Di Wang, Wanhai Xu   +37 more
wiley   +1 more source

Increased discoverability of rare disease datasets through knowledge graph integration. [PDF]

JAMIA Open
Braun I, Hartley E, Olson D, Matentzoglu N, Schaper K, Walls R, Vasilevsky N.   +6 more
europepmc   +1 more source