Results 151 to 160 of about 152,836 (291)

Framework Conditions as Limits of Sense

Studia Semiotyczne
This paper addresses two central puzzles concerning the limits of sense. First, how can we meaningfully speak about transgressions of this limit without either speaking nonsensically ourselves, or inadvertently turning nonsense into sense?
Dustin Gooßens
doaj  

Genetic characterization of a canine model of human GAPO syndrome caused by a nonsense variant in ANTXR1. [PDF]

PLoS One
Stanbury K, Cassarani MP, Boyle JP, Schofield E, McLaughlin B, Mellersh C.   +5 more
europepmc   +1 more source

MiniSdd7‐Derived Cytosine Base Editor Promotes Efficient Multiplex Gene Knockout in Porcine Primary Fibroblasts

Animal Research and One Health, EarlyView.
The miniSdd7‐BE4max‐SpG system enables highly efficient multiplex C‐to‐T base editing of APN, CD163, and MSTN in porcine fibroblasts, providing a robust platform for future development of multiplex gene‐edited livestock. ABSTRACT Efficient multiplex genome editing is essential for improving complex traits in livestock that are governed by multiple ...
Shaoshuai Wang, Yu Wang, Dengfeng Bi, Jianguo Zhao, Yanfang Wang   +4 more
wiley   +1 more source

Clinical characteristics, genotype-phenotype correlation, and prognostic follow-up of 48 Chinese children with hereditary spherocytosis. [PDF]

Front Med (Lausanne)
Xie F, Gao Y, Gan L, Hong P, Cao S, Liu X, Tong H, Lei L, Cai B, Zhou L.   +9 more
europepmc   +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

Distinct responses of <i>COL17A1</i> nonsense variants to readthrough drugs and NOG as a novel enhancer in junctional epidermolysis bullosa. [PDF]

Mol Ther Nucleic Acids
Tan Y, El Mabrouk H, Zhang R, Magassa S, Has C, Sayar SB.   +5 more
europepmc   +1 more source

AR: An Artificial Intelligence‐Driven Fluorescent Reporter System for Gene Editing Evaluation

Animal Research and One Health, EarlyView.
The AR platform integrates an enhanced dual‐fluorescence reporter with the EasyReporter AI pipeline for efficient gene‐editing evaluation. It enables automated, high‐throughput quantification and intelligent interpretation across diverse gene‐editing systems and cellular contexts. The gene‐editing elements were created with BioGDP.com.
Mingming Xue, Hanhan Li, Yuwan Zheng, Hezhen Yang, Pengsheng Dong, Hang Jiao, Junhao Zhang, Genyuan Li, Ziyao Zhu, Hongjiang Li, Miao Zhang, Zhiquan Wang, Baosheng Feng, Qunting Lin, Guoying Hua, Kejun Wang, Wenting Li, Xiangtao Kang   +17 more
wiley   +1 more source

The Role of the OBSCN Gene in Cardiomyopathy: A Review of Molecular Mechanisms and Clinical Significance. [PDF]

J Cardiovasc Dev Dis
Chen J, Sun X, Wu S, Hu J, Zou Y, Hong K, Shen Y.   +6 more
europepmc   +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

Association of <i>ABHD12</i> Variants with the Spectrum of PHARC Syndrome Phenotypes. [PDF]

Int J Mol Sci
Romero-Vázquez S, Méjécase C, Rodriguez-Martinez AC, Cronbach N, Moosajee M.   +4 more
europepmc   +1 more source