Results 101 to 110 of about 15,403 (255)

Base Editing Mediated Generation of Point Mutations Into Human Pluripotent Stem Cells for Modeling Disease

Frontiers in Cell and Developmental Biology, 2020
Human pluripotent stem cells (hPSCs) are a powerful platform for disease modeling and drug discovery. However, the introduction of known pathogenic mutations into hPSCs is a time-consuming and labor-intensive process.
Tao Qi, Fujian Wu, Yuquan Xie, Siqi Gao, Miaomiao Li, Jun Pu, Dali Li, Feng Lan, Yongming Wang, Yongming Wang   +9 more
doaj   +1 more source

Circularly permuted and PAM-modified Cas9 variants broaden the targeting scope of base editors

, 2023
Base editing requires that the target sequence satisfy the protospacer adjacent motif requirement of the Cas9 domain and that the target nucleotide be located within the editing window of the base editor.
Miller, Shannon, Fellmann, Christof, Huang, Tony, Oakes, Benjamin, Savage, David, Liu, David, Zhao, Kevin, Gaudelli, Nicole   +7 more
core   +1 more source

The IL‐10/IL‐6 Ratio and the Risk Score: Two Cytokines‐Based Predictors for Malignancy‐Associated Hemophagocytic Lymphohistiocytosis in Adults (M‐HLHa)

American Journal of Hematology, EarlyView.
ABSTRACT The predictive value of cytokines (CK) for malignancy‐associated adult hemophagocytic lymphohistiocytosis (M‐HLHa) remains uncertain. We evaluated a cytokine‐based Risk Score (RS) and the IL‐10/IL‐6 Ratio to predict M‐HLHa. Adult patients (n = 112) from the French HLH cohort (NCT02113917) with complete data for nine key HLH related CK measured
Coralie Bloch, Stephanie Chhun, Nanthara Sritharan, Marine Gil, Raphael Lhote, Marouane Boubaya, Olivier Lambotte, David Launay, Claire Larroche, Estibaliz Lazaro, Francois Liffermann, Marc Michel, Jean‐Marie Michot, Pierre Morel, Louis Terriou, Geoffrey Urbansk, Jean‐Francois Viallard, Morgane Cheminant, Felipe Suarez, Yves Lepelletier, Geneviève de Saint Basile, Olivier Hermine, the French HLH Study Group, Coralie Bloch, Jean Philippe Jais, Francois Liffermann, Pierre Morel, Morgane Cheminant, Felipe Suarez, Olivier Hermine, Fabrice Bonnet, Pascal Godemer, Damaj Gandhi, Olivier Fain, Olivier Lambotte, David Launay, Louis Terriou, Claire Larroche, Estibaliz Lazaro, Jean‐Francois Viallard, Francois Liffermann, Olivier Lortholary, Marc Michel, Jean‐Marie Michot, Pierre Morel, Frederic Pene, Antoinette Perlat, Geoffrey Urbanski   +47 more
wiley   +1 more source

Base editor enables rational genome-scale functional screening for enhanced industrial phenotypes in Corynebacterium glutamicum

, 2022
Genome-scale functional screening accelerates comprehensive assessment of gene function in cells. Here, we have established a genome-scale loss-of-function screening strategy that combined a cytosine base editor with approximately 12,000 parallel sgRNAs ...
Xiaomeng Ni, Haoran Li, Hongwu Ma, Lu, Hui, Yanmei Guo, Wang, Ruoyu, Liu, Jiahui, Wang, Yu, Ma, Hongwu, Junwei Li, Wang, Meng, Li, Junwei, Guo, Yanmei, Ruoyu Wang, Hui Lu, Xiaoping Liao, Liu, Ye, Jiahui Liu, Li, Haoran, Liao, Xiaoping, Ni, Xiaomeng, Ye Liu, Yu Wang, Meng Wang   +23 more
core   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Synergistic optimization enhancing the precision and efficiency of cytosine base editors in poplar

Communications Biology
CRISPR/Cas9 genome editing technology, particularly cytosine base editing (CBE) systems, emerges as a powerful tool for precise genomic modification in plants, offering transformative applications across agricultural and forestry research and breeding programs.
Han Liu, Mengyu Zhang, Leiqian Sun, Yu Peng, Yu Sun, Yawei Fan, Hui Li, Di Liu, Hai Lu   +8 more
openaire   +3 more sources

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Bioorthogonally Activatable Base Editing for On-Demand Pyroptosis

, 2022
Pyroptosis is an inflammatory cell death form triggered by protease-mediated truncation and release of the N-terminal pore-forming domain of the gasdermin (GSDM) family proteins in various cell types.
Xinyuan Fan (1797391), Yanjun Liu, Xiangmei Zeng (4631452), Heng Zhang, Xiangmei Zeng, Heng Zhang (320479), Xin Wang (91924), Peng R. Chen (1565659), Xin Wang, William Shu Ching Ngai (12245083), Shaojun Yang (1799251), Xinyuan Fan, William Shu Ching Ngai, Shaojun Yang, Feng Lin (23861), Peng R. Chen, Feng Lin, Yanjun Liu (367302)   +17 more
core   +1 more source

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

, 2021
Recent studies have investigated the risks associated with BRCA1 gene mutations using various functional assessment methods such as fluorescent reporter assays, embryonic stem cell viability assays, and therapeutic drug-based sensitivity assays. Although
신하림, 김용섭, 장가영, 시지은, 권지연   +4 more
core   +1 more source