Results 211 to 220 of about 117,100 (294)

Aberrant Splicing of <i>DNM1L</i> Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1). [PDF]

Circ Genom Precis Med
Adesanya O, Nabie P, Betancourt A, Kalsotra A.   +3 more
europepmc   +1 more source

Dysregulated Rbfox2 produces aberrant splicing of Ca_V1.2 calcium channel in diabetes-induced cardiac hypertrophy. [PDF]

Cardiovasc Diabetol, 2023
Li P, Qin D, Chen T, Hou W, Song X, Yin S, Song M, Fernando WCHA, Chen X, Sun Y, Wang J.   +10 more
europepmc   +1 more source

Transcriptome-wide decoding the roles of aberrant splicing in melanoma MAPK-targeted resistance evolution. [PDF]

EMBO Rep
Yu J, He X, Wang X, Yu C, Jiang X, Li Y, Liu X, Luo Y, Chen X, Wu S, Si L, Jing J, Ma X, Shi H.   +13 more
europepmc   +1 more source

Recurrent Genomic Alterations in BCRi‐Experienced CLL Patients Treated With Venetoclax: Extended Phase 2 Follow‐Up

American Journal of Hematology, EarlyView.
Jennifer A. Woyach, Relja Popovic, Emily L. Rossi, Sanjana Singh, Toshihiko Oki, Tanya S. Rosenberg, Chen Qian, Michael Moran, Zihuan Liu, Michelle Boyer, Jeffrey Jones, Richard R. Furman, William Wierda, Jason Gotlib, Stephen J. Schuster, Brenda Chyla, Matthew S. Davids   +16 more
wiley   +1 more source

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

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

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

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

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 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