Results 161 to 170 of about 205,219 (310)

ANK1 and EPB41 Variants and the Risk of Steroid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

Assessing the effect of bovine MSTN variants on pre-mRNA splicing. [PDF]

Anim Genet
Gaiani N, Rocha D, Boulling A.
europepmc   +1 more source

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

Pre-mRNA splicing and its regulation in microalgae and cyanobacteria. [PDF]

Adv Biotechnol (Singap)
Do S, Liu Y, Huynh H, Liu Y, Li W, Chen MX, Du ZY.   +6 more
europepmc   +1 more source

A Mechanistic Model of rAAV Production in Synthetic Cell Lines

Biotechnology and Bioengineering, EarlyView.
ABSTRACT The recombinant adeno‐associated virus (rAAV) is a widely used vector for gene therapy. Its manufacturing faces significant challenges in producing the large quantities of vectors needed for clinical applications and reducing empty particles.
Prahalad Srinivasan, Han‐Jung Kuo, Yu‐Chieh Lin, Yen‐An Lu, Wei‐Shou Hu, Qi Zhang   +5 more
wiley   +1 more source

CDK7-CDK11 axis in spliceosome regulation and pre-mRNA splicing. [PDF]

Nucleic Acids Res
Rájecký M, Gajdušková P, Maník P, Hluchý M, Hegedűsová E, Kryštofová K, Potěšil D, Martinková P, Slabá Z, Khirsariya P, Šebesta M, Paruch K, Friedel CC, Zdráhal Z, Blazek D.   +14 more
europepmc   +1 more source

CDK11 requires a critical activator SAP30BP to regulate pre-mRNA splicing. [PDF]

EMBO J, 2023
Wang C, Xu L, Du C, Yun H, Wang K, Liu H, Ye M, Fan J, Zhou Y, Cheng H.   +9 more
europepmc   +1 more source

Engineering Bisubstrates to Target m6Am RNA Methyltransferases: Synthesis and Computational Studies

Chemistry – A European Journal, EarlyView.
Use of the convertible nucleoside approach to synthesize m6Am RNA methyltransferase bisubstrates. This methodology allows for the introduction of modifications on the SAM analog moiety and the RNA substrate part, including the introduction of a cap analog by click chemistry.
Yoann Colas, Laurent Le Corre, Mélanie Ethève‐Quelquejeu, Emmanuelle Braud   +3 more
wiley   +1 more source

Competition for the conserved branch point sequence influences physiological outcomes in pre-mRNA splicing. [PDF]

Elife
Pereira de Castro KL, Abril JM, Liao KC, Hao H, Donohue JP, Russell WK, Fagg WS.   +6 more
europepmc   +1 more source

Chemical Ligation of Backbone N‐hydroxylated Peptides

Chemistry – A European Journal, EarlyView.
Peptide backbone N‐hydroxylation enables sequence‐agnostic fragment ligation via hydroxamate O‐acyl capture and O→N acyl transfer in water. Broad tolerance of sterically demanding nucleophilic residues is observed, and reductive N─O cleavage restores the native amide bond.
Natalia Cano‐Sampaio, Juan R. Del Valle   +1 more
wiley   +1 more source