Search Results - "Olthof, Anouk"

Minor intron splicing revisited: identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns by Olthof, Anouk M, Hyatt, Katery C, Kanadia, Rahul N

“…Mutations in minor spliceosome components such as U12 snRNA (cerebellar ataxia) and U4atac snRNA (microcephalic osteodysplastic primordial dwarfism type 1…”
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Transcription-Coupled Nucleotide Excision Repair and the Transcriptional Response to UV-Induced DNA Damage by Nieto Moreno, Nicolás, Olthof, Anouk M, Svejstrup, Jesper Q

“…Ultraviolet (UV) irradiation and other genotoxic stresses induce bulky DNA lesions, which threaten genome stability and cell viability. Cells have evolved two…”
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The emerging significance of splicing in vertebrate development by Olthof, Anouk M, White, Alisa K, Kanadia, Rahul N

“…Splicing is a crucial regulatory node of gene expression that has been leveraged to expand the proteome from a limited number of genes. Indeed, the vast…”
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Taxonomy of introns and the evolution of minor introns by Olthof, Anouk M, Schwoerer, Charles F, Girardini, Kaitlin N, Weber, Audrey L, Doggett, Karen, Mieruszynski, Stephen, Heath, Joan K, Moore, Timothy E, Biran, Jakob, Kanadia, Rahul N

“…Abstract Classification of introns, which is crucial to understanding their evolution and splicing, has historically been binary and has resulted in the naming…”
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Introns: the "dark matter" of the eukaryotic genome by Girardini, Kaitlin N, Olthof, Anouk M, Kanadia, Rahul N

“…The emergence of introns was a significant evolutionary leap that is a major distinguishing feature between prokaryotic and eukaryotic genomes. While…”
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Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells by Baumgartner, Marybeth, Olthof, Anouk M, Aquino, Gabriela S, Hyatt, Katery C, Lemoine, Christopher, Drake, Kyle, Sturrock, Nikita, Nguyen, Nhut, Al Seesi, Sahar, Kanadia, Rahul N

“…Mutation in minor spliceosome components is linked to the developmental disorder microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Here, we…”
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Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns by Olthof, Anouk M, White, Alisa K, Mieruszynski, Stephen, Doggett, Karen, Lee, Madisen F, Chakroun, Almahdi, Abdel Aleem, Alice K, Rousseau, Justine, Magnani, Cinzia, Roifman, Chaim M, Campeau, Philippe M, Heath, Joan K, Kanadia, Rahul N

“…Abstract Vertebrate genomes contain major (>99.5%) and minor (<0.5%) introns that are spliced by the major and minor spliceosomes, respectively. Major intron…”
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Disrupted minor intron splicing is prevalent in Mendelian disorders by Olthof, Anouk M., Rasmussen, Jeffrey S., Campeau, Philippe M., Kanadia, Rahul N.

“…Background Splicing is crucial for proper gene expression, and is predominately executed by the major spliceosome. Conversely, 722 introns in 699 human minor…”
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Minor intron-containing genes as an ancient backbone for viral infection? by Wuchty, Stefan, White, Alisa K, Olthof, Anouk M, Drake, Kyle, Hume, Adam J, Olejnik, Judith, Aguiar-Pulido, Vanessa, Mühlberger, Elke, Kanadia, Rahul N

“…Minor intron-containing genes (MIGs) account for <2% of all human protein-coding genes and are uniquely dependent on the minor spliceosome for proper excision…”
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Stability of steroid hormones in dried blood spots (DBS) by Olthof, Anouk, Hillebrand, Jacquelien J, Wickenhagen, Wjera V, Boelen, Anita, Heijboer, Annemieke C

“…Steroid hormone levels of patients may be monitored via dried blood spot (DBS) sampling at home. Stability of steroid hormones in DBS samples, however, needs…”
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The Minor Spliceosome Regulates Alternative Splicing of Minor Introns in Neuronal Development and Disease by Olthof, Anouk M

“…Expression of ~2% of eukaryotic genes requires the splicing of not just one, but two types of introns: major, as well as minor, introns. These minor introns…”
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Network-based bioinformatics analysis of spatio-temporal RNA-Seq data reveals transcriptional programs underpinning normal and aberrant retinal development by Karunakaran, Devi Krishna Priya, Al Seesi, Sahar, Banday, Abdul Rouf, Baumgartner, Marybeth, Olthof, Anouk, Lemoine, Christopher, Măndoiu, Ion I, Kanadia, Rahul N

“…The retina as a model system with extensive information on genes involved in development/maintenance is of great value for investigations employing deep…”
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