Results 171 to 180 of about 273,042 (329)
Additional file 2: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
, 2016 Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, D. Bessis, Patricia Bretones, Anne Cavau, B. Digeon, Martine Doco‐Fenzy, Bérénice Doray, François Feillet, Jesús Gardeazábal, Blanca Gener, Sophie Julia, Isabel Llano‐Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean‐Louis Mandel, Vincent Laugel +28 moreopenalex +1 more sourceMapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility
Advanced Science, EarlyView.This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He +22 morewiley +1 more sourceTP53 R249S mutation in hepatic organoids captures the predisposing cancer risk
Hepatology, EarlyView., 2022 The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong +10 morewiley +1 more sourceAdditional file 4: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
, 2016 Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, D. Bessis, Patricia Bretones, Anne Cavau, B. Digeon, Martine Doco‐Fenzy, Bérénice Doray, François Feillet, Jesús Gardeazábal, Blanca Gener, Sophie Julia, Isabel Llano‐Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean‐Louis Mandel, Vincent Laugel +28 moreopenalex +1 more sourceAI‐Guided SERS Defines a Pan‐Cancer Diagnostic Biomarker
Advanced Science, EarlyView.An AI‐enabled SERS platform integrates automated exosome enrichment with molecular fingerprinting to enable accurate early detection and differential diagnosis of ten common cancers. The system identifies exosomal dATP as a universal Raman biomarker, offering a scalable, noninvasive, and clinically translatable approach for precision oncology ...
Cai Zhang, Wen‐Hui Zhao, Duo Zuo, Tianxing Zhou, Wenjing Hou, Lingwei Wang, Shangheng Shi, Yang Yang, Yuanyuan Liu, Shao‐Kai Sun, Li Ren, Zhaoxiang Ye, Dingbin Liu, Dong Li, Xiaoyuan Chen, Jihui Hao +15 morewiley +1 more sourceAdditional file 1: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
, 2016 Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, D. Bessis, Patricia Bretones, Anne Cavau, B. Digeon, Martine Doco‐Fenzy, Bérénice Doray, François Feillet, Jesús Gardeazábal, Blanca Gener, Sophie Julia, Isabel Llano‐Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean‐Louis Mandel, Vincent Laugel +28 moreopenalex +1 more sourceFrom Natural Discovery to AI‐Guided Design: A Curated Collection of Compact Enhancers for Crop Engineering
Advanced Science, EarlyView.ABSTRACT
Precise transgene‐free gene upregulation remains a challenge in crop biotechnology, as conventional enhancers often exceed CRISPR‐mediated knock‐in size constraints and face regulatory hurdles. Here we establish a foundational cross‐species resource of compact transcriptional enhancers developed via STEM‐seq, a high‐throughput screening ...Qi Yao, Jin Gao, Keling Wang, Yufeng Liu, Peijin Han, Hong Pan, Xiaofeng Yang, Qianlan Yin, Dating Zhong, Lu Ye, Qi Deng, Lingling Gao, Xiaoyu Tu, Dequan Wang, Yuming Lu +14 morewiley +1 more sourceStructure‐Guided Engineering of a Cas12i Nuclease Unlocks Near‐PAMless Genome Editing
Advanced Science, EarlyView.CRISPR‐Cas nucleases are limited by PAM requirements, restricting genome accessibility. Structure‐guided engineering of the compact Cas12i nuclease SF01 produced three variants with near‐PAMless, enabling efficient editing at diverse 5'‐NNTN‐3' sites. These nucleases expand the editable portion of the human genome more than fourfold, enabling efficient Qitong Chen, Hanlin Gou, Chao Xu, Sihan Wang, Huitao Zhang, Minglei Song, Mengge Wang, Xingkun Ji, Xiaofei Wei, Yuanyan Tan, Hehua Quan, Pengyu Luo, Hanyu Shou, Pengpeng Liu, Yafeng Liang, Jian‐Kang Zhu +15 morewiley +1 more sourceEIF5A Couples Translational Control With Transcriptional Reprogramming Through Chromocenter Reorganization During Spermiogenesis
Advanced Science, EarlyView.The translation factor Eukaryotic translation initiation factor 5A (eIF5A) is essential for male fertility in mice. It supports the translation of proteins crucial for heterochromatin organization and acrosome formation. eIF5A deficiency disrupts chromocenter integrity, increases chromatin accessibility, and causes transcriptional dysregulation ...Yuling Cai, Tongtong Li, Qian Fang, Ziyou Bao, Feng Kong, Huitao Qi, Hanzhen Li, Mingyu Zhang, Wei Wang, Yongxia Guan, Wenbo Liu, Xiangfeng Chen, Zi‐Jiang Chen, Xiaohua Jiang, Xin Wang, Hongbin Liu +15 morewiley +1 more source
