Results 71 to 80 of about 154,659 (331)

Developments in RNA Splicing and Disease [PDF]

Cold Spring Harbor Perspectives in Biology, 2010
Pre-mRNA processing, including 5'-end capping, splicing, editing, and polyadenylation, consists of a series of orchestrated and primarily cotranscriptional steps that ensure both the high fidelity and extreme diversity characteristic of eukaryotic gene expression.
Konstantinos Charizanis, Maurice S. Swanson, Ranjan Batra, Michael G. Poulos   +3 more
openaire   +2 more sources

Cellular liquid biopsy provides unique chances for disease monitoring, preclinical model generation and therapy adjustment in rare salivary gland cancer patients

Molecular Oncology, EarlyView.
We quantified and cultured circulating tumor cells (CTCs) of 62 patients with various cancer types and generated CTC‐derived tumoroid models from two salivary gland cancer patients. Cellular liquid biopsy‐derived information enabled molecular genetic assessment of systemic disease heterogeneity and functional testing for therapy selection in both ...
Nataša Stojanović Gužvić, Florian Lüke, Steffi Treitschke, Andrea Coluccio, Martin Hoffmann, Giancarlo Feliciello, Adithi Ravikumar Varadarajan, Xin Lu, Kathrin Weidele, Catherine Botteron, Silvia Materna–Reichelt, Felix Keil, Katja Evert, Florian Weber, Thomas Schamberger, Michael Althammer, Jirka Grosse, Dirk Hellwig, Christian Schulz, Stephan Seitz, Peter Ugocsai, Anke Schlenska‐Lange, Roman Mayr, Ulrich Kaiser, Wolfgang Dietmaier, Bernhard Polzer, Jens Warfsmann, Kamran Honarnejad, Tobias Pukrop, Daniel Heudobler, Christoph A. Klein, Christian Werno   +31 more
wiley   +1 more source

High-resolution transcriptome analysis with long-read RNA sequencing [PDF]

, 2014
RNA sequencing (RNA-seq) enables characterization and quantification of individual transcriptomes as well as detection of patterns of allelic expression and alternative splicing. Current RNA-seq protocols depend on high-throughput short-read sequencing of cDNA.
arxiv   +1 more source

A Gene Gun-mediated Nonviral RNA trans-splicing Strategy for Col7a1 Repair

Molecular Therapy: Nucleic Acids, 2016
RNA trans-splicing represents an auspicious option for the correction of genetic mutations at RNA level. Mutations within COL7A1 causing strong reduction or absence of type VII collagen are associated with the severe skin blistering disease dystrophic ...
Patricia Peking, Ulrich Koller, Stefan Hainzl, Sophie Kitzmueller, Thomas Kocher, Elisabeth Mayr, Alexander Nyström, Thomas Lener, Julia Reichelt, Johann W Bauer, Eva M Murauer   +10 more
doaj   +1 more source

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]

, 2015
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili, Antonio Musarò, Arnold, Biamonte, Bianchi, Bielli, Bielli, Bose, Branchu, Bricceno, Burnett, Bäumer, Cai, Chen, Cho, Claudio Sette, Ehrmann, Feng, Fu, Galarneau, Hofmann, Hofmann, Hua, Huot, Iascone, Iijima, Kashima, Kashima, Laura Pelosi, Le, Li, Ling, Lorson, Lukong, Mammucari, Marcello D’Amelio, Maria Blaire Bustamante, Maria Grazia Berardinelli, Mende, Nurputra, Paronetto, Paronetto, Pedrotti, Pedrotti, Richard, Ruggiu, Shababi, Singh, Vittoria Pagliarini, Wahl, West, Zhang   +51 more
core   +2 more sources

Introduction to Cotranscriptional RNA Splicing [PDF]

, 2014
The discovery that many intron-containing genes can be cotranscriptionally spliced has led to an increased understanding of how splicing and transcription are intricately intertwined. Cotranscriptional splicing has been demonstrated in a number of different organisms and has been shown to play roles in coordinating both constitutive and alternative ...
Merkhofer, Evan C, Hu, Peter, Johnson, Tracy L   +2 more
openaire   +4 more sources

Clinical significance of stratifying prostate cancer patients through specific circulating genes

Molecular Oncology, EarlyView.
We tested a specific panel of genes representative of luminal, neuroendocrine and stem‐like cells in the blood of prostate cancer patients, showing predictive value from diagnosis to late stages of disease. This approach allows monitoring of treatment responses and outcomes at specific time points in trajectories.
Seta Derderian, Edouard Jarry, Arynne Santos, Quentin Vesval, Lucie Hamel, Rafael Sanchez‐Salas, Alexis Rompré‐Brodeur, Wassim Kassouf, Raghu Rajan, Fadi Brimo, Marie Duclos, Armen Aprikian, Simone Chevalier   +12 more
wiley   +1 more source

Transcriptomic and genomic identification of spliceosomal genes from Euglena gracilis

Acta Biochimica et Biophysica Sinica, 2023
Diverse splicing types in nuclear and chloroplast genes of protist Euglena gracilis have been recognized for decades. However, the splicing machinery responsible for processing nuclear precursor messenger RNA introns, including
Gao Pingwei, Zhong Yujie, Sun Chengfu
doaj   +1 more source

Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing [PDF]

, 2009
Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) is caused by mutations in the MAPT gene, encoding the tau protein that accumulates in intraneuronal lesions in a number of neurodegenerative diseases.
Azzouz, B. H. Anderton, Ballatore, Brandt, Chao, Chen, Coady, Coady, Connell, Conrad, D'Souza, Faustino, Gallo, Garcia-Blanco, Garcia-Blanco, Grover, Hasegawa, Hong, Hutton, J.-M. Gallo, Jiang, K. Anthony, Liu, M. A. Garcia-Blanco, MANSFIELD, Mansfield, Mitchell, Momeni, Nakamura, Park, Poorkaj, Puttaraju, S. G. Mansfield, Spillantini, T. Rodriguez-Martin, Tahara, van Swieten, Wally, Williams, Wong, Wood, Yang, Yu, Zayed   +43 more
core   +2 more sources

Analysis of comprehensive genomic profiling of solid tumors with a novel assay for broad analysis in clinical diagnostics

Molecular Oncology, EarlyView.
In molecular cancer diagnostics, comprehensive genomic profiling (CGP) is going to replace the small NGS panels since it provides all clinically relevant somatic variants as well as genomic biomarkers with clinical value. Here, we compared two CGP assays and demonstrate that the choice for diagnostic implementation will depend on the specific ...
Guy Froyen, Pieter‐Jan Volders, Ellen Geerdens, Severine Berden, Joni Van der Meulen, Aaron De Cock, Stefanie Vermeire, Jacques Van Huysse, Marie de Barsy, Gabriela Beniuga, Wendy W. J. de Leng, Anne M. L. Jansen, Imke Demers, Zeliha Ozgur, Hendrikus Jan Dubbink, Ernst‐Jan M. Speel, Wilfred F. J. van IJcken, Brigitte Maes   +17 more
wiley   +1 more source