Results 241 to 250 of about 64,155 (301)

Aberrant splicing caused by a novel KMT2A variant in Wiedemann-Steiner syndrome. [PDF]

Mol Genet Genomic Med
Niu J, Teng X, Zhang J.
europepmc   +1 more source

5‐Methylcytosine Analysis of miRNAs in Minimal Change Disease

Biotechnology and Applied Biochemistry, EarlyView.
ABSTRACT Minimal change disease (MCD) is a glomerular disorder, which is the most common cause of nephrotic syndrome in children. Additionally, the prevalence of MCD in adults has been increasing in recent years. During protein synthesis, noncoding RNAs can be regulated through a variety of modifications, which helps preserve biological diversity and ...
Huiyi Zeng, Dandan Li, Yunyi Li, Chen Yun, Xinzhou Zhang, Wenyu Gong, Mengyun Xiao, Haitao Li, Zhipeng Zeng, Ruqi Tan, Yishen Yang, Shaodong Luan, Yong Dai, Lianghong Yin, Donge Tang   +14 more
wiley   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

hnRNP A1 induces aberrant CFTR exon 9 splicing via a newly discovered ESS element [PDF]

Christelle Beaumont, Cristiana Stuani, Ming-Yuan Chou, Huma Shakoor, Maria Zlobina, Veronica Palaggi, Emanuele Buratti, Peter J. Lukavsky   +7 more
openalex   +1 more source

Safety, tolerability and pharmacokinetics of DNDI‐6148, a novel agent for leishmaniasis: A randomized, controlled, single ascending dose study in healthy participants

British Journal of Clinical Pharmacology, EarlyView.
Aim The benzoxaborole derivative DNDI‐6148 is an antiparasitic agent with activity against multiple Leishmania protozoan species, including L. infantum and L. donovani, which cause visceral leishmaniasis. We investigated the safety, tolerability and pharmacokinetics of single oral doses of DNDI‐6148 in a randomized, parallel‐group, placebo‐controlled ...
Jean‐Yves Gillon, Sophie Delhomme, Delphine Launay, Séverine Blesson, Stéphanie Braillard, Pegah Maghdooni, Frauke Assmus, Richard Hoglund, Joel Tarning, Sabrina Loyau, Byron Arana, Mathilde Latreille‐Barbier, Yves Donazzolo   +12 more
wiley   +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

Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. [PDF]

Int J Mol Sci
Maggi J, Feil S, Gloggnitzer J, Maggi K, Bachmann-Gagescu R, Gerth-Kahlert C, Koller S, Berger W.   +7 more
europepmc   +1 more source

The Influence of Drosophila Spire and Myosin V During Mid‐Oogenesis Is Independent of Their Direct Interaction

Cytoskeleton, EarlyView.
ABSTRACT Cooperativity between cytoskeletal proteins is crucial for spatiotemporal coordination in biological processes, like oogenesis. In mammalian and Drosophila oogenesis, proper assembly and function of actin networks require coordination between actin assembly factors Spire and formins, as well as actin‐associated proteins like myosins and Rab ...
Joseph Y. Ong, Hannah M. Bailey, Emma Carley, Michelle Panzica, Merin Rixen, Neil Billington, Rong Liu, Margot E. Quinlan   +7 more
wiley   +1 more source

Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series. [PDF]

Int J Nephrol Renovasc Dis
Li Y, Yan X, Luo Z, Fu X, Li Z, Xu Q, Chen J, Yang J, Lu D.   +8 more
europepmc   +1 more source

Numerical investigation on the influence of mesoscopic deformation on contact area and hydraulic aperture to fracture seepage

Deep Underground Science and Engineering, EarlyView.
Fluid flow through a single fracture is commonly described by the cubic law. However, deviations from this model are expected because natural fracture surfaces are rough and in contact with each other in discrete regions. In this study, the interactions between fracture closure, contact area, and hydraulic characterization of mesoscopic‐scale rough ...
Chenghao Han, Yuanlin Bai, Weijie Zhang, Jicheng Zhang, Hongfa Ma, Weiye Li   +5 more
wiley   +1 more source