Results 151 to 160 of about 64,882 (210)

Dysregulation of U12‐Type Splicing in Lupus Neutrophils

Arthritis &Rheumatology, EarlyView.
Objective Neutrophil dysfunction is a hallmark of systemic lupus erythematosus (SLE), but its molecular basis remains unclear. This study explores transcriptional and posttranscriptional changes in low‐density granulocytes (LDGs), a proinflammatory neutrophil subset expanded in SLE, focusing on NADPH oxidase (Nox) function and minor intron splicing ...
Luz P. Blanco, Binod Regmi, Carmelo Carmona‐Rivera, Yudong Liu, Xiantao Wang, Philip M. Carlucci, Monica M. Jackson, Zerai Manna, Sarfaraz Hasni, Markus Hafner, Hong‐Wei Sun, Mariana J. Kaplan   +11 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

ZRSR2 loss causes aberrant splicing in JAK2^V617F-driven myeloproliferative neoplasm but is not sufficient to drive disease progression. [PDF]

Hemasphere
Zhang R, Straube J, Janardhanan Y, Haldar R, Cooper L, Hayes N, Laurore C, Kim CJ, Luskin MR, Lindsley RC, Stahl M, Mullally A, Marneth AE, Bywater M, Lane SW.   +14 more
europepmc   +1 more source

Tackling cancer stemness with nanotechnology in the era of precision medicine

BMEMat, EarlyView.
Precise customization of nanoparticles (NPs) enables active targeting of cancer stem cells (CSCs), thereby improving drug delivery and therapeutic efficacy. NP‐based probing enhances CSC detection through imaging and liquid biopsy, whereas diverse therapeutic payloads improve therapeutic outcomes.
Shaolei Guo, Shun Yao, Lihui Meng, Chunyuan Chen, Yuechu Lucinda Lu, Rong Lu, Kashif Rafiq Zahid, Umar Raza, Qingzhi Wu, Wenli Chen   +9 more
wiley   +1 more source

Structural insights into spliceosome fidelity: DHX35-GPATCH1- mediated rejection of aberrant splicing substrates. [PDF]

Cell Res
Li Y, Fischer P, Wang M, Zhou Q, Song A, Yuan R, Meng W, Chen FX, Lührmann R, Lau B, Hurt E, Cheng J.   +11 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

A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsy. [PDF]

Ital J Pediatr
Bai J, Li P, Jiao H, Jin Y, Wang H, Jiang Q, Song F, Peng X, Qu Y.   +8 more
europepmc   +1 more source

Uncovering Coenzyme Q10‐Related Genetic Determinants of Statin‐Associated Muscle Symptoms: Evidence from the UK Biobank and the All of Us Research Program

Clinical Pharmacology &Therapeutics, EarlyView.
Statin‐associated muscle symptoms (SAMS) are frequent adverse effects of statin therapy and have been hypothesized to result from impaired coenzyme Q10 (CoQ10) biosynthesis. Although genetic determinants of CoQ10 levels have been reported, genome‐wide association studies (GWASs) conducted specifically in statin users are lacking. Moreover, direct CoQ10
Da Hoon Lee, Yoon‐A Park, Yubin Song, Ji‐Min Han, Kyung Hee Choi, Myeong Gyu Kim, Hye Sun Gwak   +6 more
wiley   +1 more source

RBM10 loss promotes metastases by aberrant splicing of cytoskeletal and extracellular matrix mRNAs. [PDF]

J Exp Med
Krishnamoorthy GP, Glover AR, Untch BR, Sigcha-Coello N, Xu B, Vukel D, Liu Y, Tiedje V, Pineda JMB, Berman K, Tamarapu PP, Acuña-Ruiz A, Saqcena M, de Stanchina E, Boucai L, Ghossein RA, Knauf JA, Abdel-Wahab O, Bradley RK, Fagin JA.   +19 more
europepmc   +1 more source

Does Next Generation Sequencing (NGS)‐Based CYP2D6 Sequencing Improve Genotype–Phenotype Concordance in Tamoxifen‐Treated Patients?

Clinical Pharmacology &Therapeutics, EarlyView.
CYP2D6 metabolizes about 20% of commonly used drugs, including tamoxifen, a major hormone therapy for breast cancer. Although the relationship between tamoxifen pharmacokinetics and CYP2D6 genotype has been demonstrated, residual variability in drug exposure remains unexplained.
Jeanne Petit, Julien Plenecassagnes, Aurelie Brice, Florence Dalenc, Ludovic Mallet, Etienne Chatelut, Ayman Al Saati, Fabienne Thomas   +7 more
wiley   +1 more source