Results 81 to 90 of about 20,553 (236)

CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation

Nature Communications
The gene therapy achieved by AAV-mediated otoferlin-overexpression is an effective therapeutic strategy for congenital deafness. However, achieving its physiological and endogenous patterns of expression remains challenging.
Hanxiao Sun, Qi Teng, Wenqing Liu, Rui Guo, Menghua Li, Wei Xiong, Qiang Huang, Qianru Yu, Nan Luo, Yang Li, Jinghui Song, Shusheng Gong, Xi Shi, Chengqi Yi, Ke Liu   +14 more
doaj   +1 more source

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons.

PLoS ONE
Alport syndrome is caused by variants in COL4A3, COL4A4, or COL4A5, which encode the α3α4α5 chains of type IV collagen. These variants result in defects in the glomerular basement membrane (GBM) and impaired kidney function.
Kohei Omachi, Joseph J Porter, John D Lueck, Jeffrey H Miner   +3 more
doaj   +1 more source

Sheep Horn Development Revealed by Multi‐Tissue and Cross‐Species Transcriptomic Analysis

Animal Research and One Health, EarlyView.
Multi‐tissue and cross‐species transcriptomics with allele‐specific expression show sheep horns are a composite organ integrating epidermal and osteogenic programs. Conserved horn gene modules and cis‐regulatory variation fine‐tune expression networks underlying horn development and size (small scurs vs. large spiral horns).
Hao Li, Yuchen He, Yangshuo Hu, Naominggaowa, Huaiqiang Yang, Zhu Meng, Fei Liu, Shiwen Zhang, Yi Jin, Mingxing Chu, Zhangyuan Pan   +10 more
wiley   +1 more source

Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome). [PDF]

Int J Mol Sci, 2023
Siddiqui A, Dundar H, Sharma J, Kaczmarczyk A, Echols J, Dai Y, Sun CR, Du M, Liu Z, Zhao R, Wood T, Sanders S, Rasmussen L, Bostwick JR, Augelli-Szafran C, Suto M, Rowe SM, Bedwell DM, Keeling KM.   +18 more
europepmc   +1 more source

Extended stop codon context predicts nonsense codon readthrough efficiency in human cells

Nature Communications
Protein synthesis terminates when a stop codon enters the ribosome’s A-site. Although termination is efficient, stop codon readthrough can occur when a near-cognate tRNA outcompetes release factors during decoding.
Kotchaphorn Mangkalaphiban, Lianwu Fu, Ming Du, Kari Thrasher, Kim M. Keeling, David M. Bedwell, Allan Jacobson   +6 more
doaj   +1 more source

Future of the Genetic Code

Life, 2017
The methods for establishing synthetic lifeforms with rewritten genetic codes comprising non-canonical amino acids (NCAA) in addition to canonical amino acids (CAA) include proteome-wide replacement of CAA, insertion through suppression of nonsense codon,
Hong Xue, J. Tze-Fei Wong
doaj   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

UPF1 silenced cellular model systems for screening of read-through agents active on β039 thalassemia point mutation

BMC Biotechnology, 2018
Background Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia.
Francesca Salvatori, Mariangela Pappadà, Giulia Breveglieri, Elisabetta D’Aversa, Alessia Finotti, Ilaria Lampronti, Roberto Gambari, Monica Borgatti   +7 more
doaj   +1 more source

Precision medicine in paediatrics: Progress and priorities

British Journal of Clinical Pharmacology, EarlyView.
Precision medicine is revolutionizing personalized healthcare, advancing both diagnostics and therapeutics at an unprecedented pace. Reviewing the paediatric applications of pharmacometrics, pharmacogenomics and advanced therapy medicinal products highlights not only the relevance of these exciting innovations to frontline care but also the significant
Nicola Husain, Claire Booth, Joseph F. Standing, Charlotte I. S. Barker   +3 more
wiley   +1 more source