Results 61 to 70 of about 37,352 (250)

Identification of a small molecule inhibitor that stalls splicing at an early step of spliceosome activation

eLife, 2017
Small molecule inhibitors of pre-mRNA splicing are important tools for identifying new spliceosome assembly intermediates, allowing a finer dissection of spliceosome dynamics and function. Here, we identified a small molecule that inhibits human pre-mRNA
Anzhalika Sidarovich, Cindy L Will, Maria M Anokhina, Javier Ceballos, Sonja Sievers, Dmitry E Agafonov, Timur Samatov, Penghui Bao, Berthold Kastner, Henning Urlaub, Herbert Waldmann, Reinhard Lührmann   +11 more
doaj   +1 more source

Whole-Transcriptome Sequencing Identifies Key Differentially Expressed mRNAs, miRNAs, lncRNAs, and circRNAs Associated with CHOL

Molecular Therapy: Nucleic Acids, 2020
To systematically evaluate the whole-transcriptome sequencing data of cholangiocarcinoma (CHOL) to gain more insights into the transcriptomic landscape and molecular mechanism of this cancer, we performed whole-transcriptome sequencing based on the ...
Kai-Jian Chu, Yu-Shui Ma, Xiao-Hui Jiang, Ting-Miao Wu, Zhi-Jun Wu, Zhi-Zhen Li, Jing-Han Wang, Qing-Xiang Gao, Bin Yi, Yi Shi, Hui-Min Wang, Li-Peng Gu, Su-Qing Zhang, Gao-Ren Wang, Ji-Bin Liu, Da Fu, Xiao-Qing Jiang   +16 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Pseudouridines in spliceosomal snRNAs [PDF]

Protein & Cell, 2011
Spliceosomal RNAs are a family of small nuclear RNAs (snRNAs) that are essential for pre-mRNA splicing. All vertebrate spliceosomal snRNAs are extensively pseudouridylated after transcription. Pseudouridines in spliceosomal snRNAs are generally clustered in regions that are functionally important during splicing.
Andrew T, Yu, Junhui, Ge, Yi-Tao, Yu
openaire   +2 more sources

Myeloid neoplasms with isolated isochromosome 17q: a yet to be defined entity

Mediterranean Journal of Hematology and Infectious Diseases, 2017
It has been suggested that myeloid neoplasms with isolated isochromosome 17q[MN i(17q)] comprise a distinct entity with poor prognosis. However, literature reports show a considerable clinical and molecular heterogeneity.
Eleftheria Lamprianidou, Chryssoula Kordella, Menelaos Papoutselis, Zoi Bezyrgiannidou, Evangelia Nakou, Spyros Papamichos, Emmanouil Spanoudakis, Andreas Giannopoulos, Katerina Zoi, Ioannis Kotsianidis   +9 more
doaj   +1 more source

Integrative Multi‐Omics Analysis Reveals a Mitochondrial–Immune Axis Associated With Neoadjuvant Chemotherapy Response in High‐Grade Serous Ovarian Cancer

Advanced Science, EarlyView.
Integrative multi‐omics analysis delineates a mitochondrial–immune axis governing neoadjuvant chemotherapy response in high‐grade serous ovarian cancer. Immune‐active tumors exhibit enhanced B‐cell infiltration and favorable sensitivity, whereas metabolically rewired tumors display oxidative phosphorylation dependency and resistance.
Wei Jiang, Yi Wang, Xiaohang Lu, Qianlan Yao, Libing Xiang, Xu Cai, Xiaoyu Tu, Shaoxian Tang, Ying Xu, Yufan Cheng, Liming Shen, Huijuan Yang   +11 more
wiley   +1 more source

SnapShot: Spliceosome Dynamics I

Cell, 2015
Spliceosomes are multi-megadalton RNA-protein molecular machines that carry out pre-mRNA splicing, that is, the removal of non-coding intervening sequences (introns) from eukaryotic pre-mRNAs and the ligation of neighboring coding regions (exons) to produce mature mRNA for protein biosynthesis on the ribosome.
Wahl, M., Lührmann, R.
openaire   +7 more sources

Human spliceosomal snRNA sequence variants generate variant spliceosomes

RNA, 2021
Human pre-mRNA splicing is primarily catalyzed by the major spliceosome, comprising five small nuclear ribonucleoprotein complexes, U1, U2, U4, U5, and U6 snRNPs, each of which contains the corresponding U-rich snRNA. These snRNAs are encoded by large gene families exhibiting significant sequence variation, but it remains unknown if most human snRNA ...
Justin W. Mabin, Peter W. Lewis, David A. Brow, Heidi Dvinge   +3 more
openaire   +2 more sources

Introns: the “dark matter” of the eukaryotic genome

Frontiers in Genetics, 2023
The emergence of introns was a significant evolutionary leap that is a major distinguishing feature between prokaryotic and eukaryotic genomes. While historically introns were regarded merely as the sequences that are removed to produce spliced ...
Kaitlin N. Girardini, Anouk M. Olthof, Anouk M. Olthof, Rahul N. Kanadia, Rahul N. Kanadia   +4 more
doaj   +1 more source