Results 81 to 90 of about 586,929 (366)

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source

Unusual Intron Conservation near Tissue-Regulated Exons Found by Splicing Microarrays. [PDF]

PLoS Computational Biology, 2006
Alternative splicing contributes to both gene regulation and protein diversity. To discover broad relationships between regulation of alternative splicing and sequence conservation, we applied a systems approach, using oligonucleotide microarrays ...
Charles W Sugnet, Karpagam Srinivasan, Tyson A Clark, Georgeann O'Brien, Melissa S Cline, Hui Wang, Alan Williams, David Kulp, John E Blume, David Haussler, Manuel Ares   +10 more
doaj   +2 more sources

Microsatellite Content in 397 Nuclear Exons and Their Flanking Regions in the Fern Family Ophioglossaceae

Plants
Microsatellites or SSRs are small tandem repeats that are 1–6 bp long. They are usually highly polymorphic and form important portions of genomes. They have been extensively analyzed in humans, animals and model plants; however, information from non ...
Darina Koubínová, GoFlag Consortium, Jason R. Grant   +2 more
doaj   +1 more source

Differentiated evolutionary rates in alternative exons and the implications for splicing regulation

BMC Evolutionary Biology, 2006
Background Alternatively spliced exons play an important role in the diversification of gene function in most metazoans and are highly regulated by conserved motifs in exons and introns.
Eyras Eduardo, Plass Mireya
doaj   +1 more source

Diverse splicing patterns of exonized Alu elements in human tissues. [PDF]

PLoS Genetics, 2008
Exonization of Alu elements is a major mechanism for birth of new exons in primate genomes. Prior analyses of expressed sequence tags show that almost all Alu-derived exons are alternatively spliced, and the vast majority of these exons have low ...
Lan Lin, Shihao Shen, Anne Tye, James J Cai, Peng Jiang, Beverly L Davidson, Yi Xing   +6 more
doaj   +1 more source

Identification and quantification of small exon-containing isoforms in long-read RNA sequencing data [PDF]

, 2023
Zhen Liu, Chenchen Zhu, Lars M. Steinmetz, Wei Wu   +3 more
openalex   +1 more source

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

Computational prediction of splicing regulatory elements shared by Tetrapoda organisms [PDF]

, 2009
Background: auxiliary splicing sequences play an important role in ensuring accurate and efficient splicing by promoting or repressing recognition of authentic splice sites.
Churbanov, Alexander, Hicks, Chindo, Vořechovský, Igor   +2 more
core   +3 more sources

A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations

Molecular Genetics & Genomic Medicine, 2022
Background Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low‐level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation.
Niall Patrick Keegan, Sue Fletcher
doaj   +1 more source

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

Molecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir, Lukasz Arcimowicz, Lucia Martinkova, Vaclav Hrabal, Filip Zavadil Kokas, Tomas Henek, Martina Kucerikova, Ondrej Bonczek, Pavlina Zatloukalova, Lenka Hernychova, Philip J. Coates, Borivoj Vojtesek, David P. Lane   +12 more
wiley   +1 more source