Results 21 to 30 of about 154,659 (331)

The incredible complexity of RNA splicing [PDF]

Genome Biology, 2016
Alternative splice isoforms are common and important and have been shown to impact many human diseases. A new study by Nellore et al. offers a comprehensive study of splice junctions in humans by re-analyzing over 21,500 public human RNA sequencing datasets.
Christelle Robert, Mick Watson
openaire   +3 more sources

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. [PDF]

, 2015
Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise ...
Ganser, Arnold, Grossmann, Vera, Haferlach, Torsten, Kanojia, Deepika, Koeffler, H Phillip, Kohlmann, Alexander, Li, Jia, Madan, Vikas, Miyano, Satoru, Ogawa, Seishi, Okamoto, Ryoko, Sanada, Masashi, Sato-Otsubo, Aiko, Shiraishi, Yuichi, Sundaresan, Janani, Thol, Felicitas, Yang, Henry   +16 more
core   +2 more sources

Discover hidden splicing variations by mapping personal transcriptomes to personal genomes. [PDF]

, 2015
RNA-seq has become a popular technology for studying genetic variation of pre-mRNA alternative splicing. Commonly used RNA-seq aligners rely on the consensus splice site dinucleotide motifs to map reads across splice junctions.
Bahrami-Samani, Emad, Lu, Zhi-Xiang, Park, Juw Won, Stein, Shayna, Xing, Yi   +4 more
core   +2 more sources

Global donor and acceptor splicing site kinetics in human cells

eLife, 2019
RNA splicing is an essential part of eukaryotic gene expression. Although the mechanism of splicing has been extensively studied in vitro, in vivo kinetics for the two-step splicing reaction remain poorly understood.
Leonhard Wachutka, Livia Caizzi, Julien Gagneur, Patrick Cramer   +3 more
doaj   +1 more source

rMAPS: RNA map analysis and plotting server for alternative exon regulation. [PDF]

, 2016
RNA-binding proteins (RBPs) play a critical role in the regulation of alternative splicing (AS), a prevalent mechanism for generating transcriptomic and proteomic diversity in eukaryotic cells.
Jung, Sungbo, Park, Juw Won, Rouchka, Eric C, Tseng, Yu-Ting, Xing, Yi   +4 more
core   +2 more sources

Apparent non-canonical trans-splicing is generated by reverse transcriptase in vitro [PDF]

, 2010
Trans-splicing, the in vivo joining of two RNA molecules, is well characterized in several groups of simple organisms but was long thought absent from fungi, plants and mammals.
David Tollervey, DS Rickman, E Gilboa, ES Svarovskaia, F Perocchi, GX Luo, H Li, HM Temin, J Cocquet, J Houseley, J Sambrook, Jonathan Houseley, KEM Hastings, M Geiszt, M Ouhammouch, P Kapranov, P Unneberg, RH Herai, RM Mader, S Zhu, SW Roy, T Horiuchi, Thomas Preiss, TR Gingeras, X Li, X Niu, XC Zeng   +26 more
core   +4 more sources

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han, Feixia Zhan, Yuxin Yao, Li Cao, Jianguo Liu, Sheng Yao   +5 more
wiley   +1 more source

RNA splicing: disease and therapy [PDF]

Briefings in Functional Genomics, 2011
The majority of human genes that encode proteins undergo alternative pre-mRNA splicing and mutations that affect splicing are more prevalent than previously thought. The mechanism of pre-mRNA splicing is highly complex, requiring multiple interactions between pre-mRNA, small nuclear ribonucleoproteins and splicing factor proteins.
Douglas, Andrew G.L., Wood, Matthew J.A.
openaire   +4 more sources

Vascular endothelial‐cadherin as a marker of endothelial injury in preclinical Alzheimer disease

Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1926-1940, December 2022., 2022
Abstract Objective Endothelial dysfunction is an early and prevalent pathology in Alzheimer disease (AD). We here investigate the value of vascular endothelial‐cadherin (VEC) as a cerebrospinal fluid (CSF) marker of endothelial injury in preclinical AD.
Rawan Tarawneh, Rachel S. Kasper, Jessie Sanford, Chia‐Ling Phuah, Jason Hassenstab, Carlos Cruchaga   +5 more
wiley   +1 more source

An overview of RNA splicing and functioning of splicing factors in land plant chloroplasts

RNA Biology, 2022
RNA splicing refers to a process by which introns of a pre-mRNA are excised and the exons at both ends are joined together. Chloroplast introns are inherently self-splicing ribozymes, but over time, they have lost self-splicing ability due to the ...
Xuemei Wang, Jingyi Wang, Simin Li, Congming Lu, Na Sui   +4 more
doaj   +1 more source