Results 141 to 150 of about 34,718 (253)

Alternative spliceosome assembly pathways revealed by single-molecule fluorescence microscopy

, 2015
Removal of introns from nascent transcripts (pre-mRNAs) by the spliceosome is an essential step in eukaryotic gene expression. Previous studies have suggested that the earliest steps in spliceosome assembly in yeast are highly ordered and the stable ...
Xu, Ming-Qun, Gelles, Jeff, Serebrov, Victor, Hoskins, Aaron A., Friedman, Larry J., Shcherbakova, Inna, Moore, Melissa J., Correa, Ivan R. Jr.   +7 more
core   +1 more source

Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3’ splice sites

RNA Biology
SF3B1 is a core component of the spliceosome involved in branch point recognition and 3’ splice site selection. The SF3B1 K700E mutation (lysine to glutamic acid) is common in myelodysplastic syndrome and other blood disorders.
Austin Herbert, Abigail Hatfield, Alexandra Randazza, Valeria Miyamoto, Katie Palmer, Lela Lackey   +5 more
doaj   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1268-1275, June 2026.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant

Molecular Genetics & Genomic Medicine
Background While recently identified heterozygous PRPF8 variants have been linked to various human diseases, their role in neurodevelopmental disorders (NDDs) remains ambiguous.
Mohammad Reza Mirinezhad, Farzaneh Mirzaei, Arash Salmaninejad, Reza Jafarzadeh Esfehani, Mohammad Reza Seyedtaghia, Sheyda Farahmand, Mehran Beiraghi Toosi, Somayyeh Hashemian, M. E. Suzzane Lewis   +8 more
doaj   +1 more source

Mapping cross‐domain drivers of Alzheimer's disease risk through integrated network analysis

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION Alzheimer's disease (AD) is a complex neurodegenerative disorder with numerous known risk factors. Identification of which genetic factors are causal drivers is difficult due to the long disease prodrome in an inaccessible organ.
Gregory A Cary, Stephen Keegan, Jesse C Wiley, Jake Gockley, Robert R Butler III, Frank M Longo, Allan I Levey, Anna K Greenwood, Karina Leal, Gregory W Carter, for The Emory‐Sage‐SGC‐JAX TREAT‐AD Center   +10 more
wiley   +1 more source

Alternative Spliceosome Assembly Pathways Revealed by Single-Molecule Fluorescence Microscopy

, 2013
SummaryRemoval of introns from nascent transcripts (pre-mRNAs) by the spliceosome is an essential step in eukaryotic gene expression. Previous studies have suggested that the earliest steps in spliceosome assembly in yeast are highly ordered and the ...
Ivan R. Corrêa, Jr., Xu, Ming-Qun, Gelles, Jeff, Aaron A. Hoskins, Friedman, Larry J., Serebrov, Victor, Corrêa, Ivan R., Jeff Gelles, Victor Serebrov, Ming-Qun Xu, Hoskins, Aaron A., Inna Shcherbakova, Shcherbakova, Inna, Melissa J. Moore, Moore, Melissa J., Larry J. Friedman   +15 more
core   +1 more source

Genetic and Clinical Features in TP53‐Mutated Patients With Myelodysplastic Neoplasms: A Retrospective Study Based on Next‐Generation Sequencing Data

Cancer Reports, Volume 9, Issue 6, June 2026.
ABSTRACT Background The recent fifth edition of World Health Organization and International Consensus Classification in 2022 recognized TP53‐mutated myelodysplastic neoplasms (MDS) as a distinct entity requiring multi‐hit classification. Literatures indicate that TP53 variant alle frequency (VAF) correlates with clinical outcomes.
Yanming Cheng, Lixia Liu, Yu Gao, Yifei Wang, Wei Zhu, Hong Chen, Jiayue Qin, Yudi Zhang   +7 more
wiley   +1 more source

Single‐cell and repertoire profiling reveals immune remodelling in paediatric upper airway: insights from adenoid hypertrophy

Clinical &Translational Immunology, Volume 15, Issue 6, 2026.
Single‐cell and paired V(D)J profiling show that paediatric adenoid hypertrophy features expanded proliferative germinal‐centre B cells with impaired maturation. Abstract Objectives To characterise the immune cellular landscape and paired B‐cell and T‐cell receptor repertoires of hypertrophic adenoids in children with obstructive sleep apnoea.
Chao Wang, Yufei Pan, Xiao Han, Kai Sun, Jing Li, Yuanyuan Lu, Zhenkun Yu   +6 more
wiley   +1 more source

Transcriptome-wide interrogation of the functional intronome by spliceosome profiling

, 2017
SUMMARYFull understanding of eukaryotic transcriptomes and how they respond to different conditions requires deep knowledge of all sites of intron excision. Although RNA-Seq provides much of this information, the low abundance of many spliced transcripts
Hakan Ozadam, Melissa J. Moore, Weijun Chen, Jill Moore, Nicholas Rhind, Hennady P. Shulha, Zhiping Weng   +6 more
core   +1 more source

Spliceosome [PDF]

Science-Business eXchange, 2008
  +5 more sources