Search Results - "Kanadia, Rahul N"

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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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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Role of NDE1 in the Development and Evolution of the Gyrified Cortex by Soto-Perez, Jaseph, Baumgartner, Marybeth, Kanadia, Rahul N

“…An expanded cortex is a hallmark of human neurodevelopment and endows increased cognitive capabilities. Recent work has shown that the cell cycle-related gene…”
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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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An Integrated Model of Minor Intron Emergence and Conservation by Baumgartner, Marybeth, Drake, Kyle, Kanadia, Rahul N

“…Minor introns constitute <0.5% of the introns in the human genome and have remained an enigma since their discovery. These introns are removed by a distinct…”
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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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Reversal of RNA Missplicing and Myotonia after Muscleblind Overexpression in a Mouse Poly(CUG) Model for Myotonic Dystrophy by Kanadia, Rahul N., Shin, Jihae, Yuan, Yuan, Beattie, Stuart G., Wheeler, Thurman M., Thornton, Charles A., Swanson, Maurice S.

“…RNA-mediated pathogenesis is a recently developed disease model that proposes that certain types of mutant genes produce toxic transcripts that inhibit the…”
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A Muscleblind Knockout Model for Myotonic Dystrophy by Kanadia, Rahul N., Johnstone, Karen A., Mankodi, Ami, Lungu, Codrin, Thornton, Charles A., Esson, Douglas, Timmers, Adrian M., Hauswirth, William W., Swanson, Maurice S.

“…The neuromuscular disease myotonic dystrophy (DM) is caused by microsatellite repeat expansions at two different genomic loci. Mutant DM transcripts are…”
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Minor splicing snRNAs are enriched in the developing mouse CNS and are crucial for survival of differentiating retinal neurons by Baumgartner, Marybeth, Lemoine, Christopher, Al Seesi, Sahar, Karunakaran, Devi Krishna Priya, Sturrock, Nikita, Banday, Abdul Rouf, Kilcollins, Ashley M, Mandoiu, Ion, Kanadia, Rahul N

“…ABSTRACT In eukaryotes, gene expression requires splicing, which starts with the identification of exon‐intron boundaries by the small, nuclear RNA (snRNAs) of…”
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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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Altered photoreceptor metabolism in mouse causes late stage age-related macular degeneration-like pathologies by Cheng, Shun-Yun, Cipi, Joris, Ma, Shan, Hafler, Brian P., Kanadia, Rahul N., Brush, Richard S., Agbaga, Martin-Paul, Punzo, Claudio

“…Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly. While the histopathology of the different disease stages is well…”
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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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Temporal requirement of the alternative-splicing factor Sfrs1 for the survival of retinal neurons by Kanadia, Rahul N, Clark, Victoria E, Punzo, Claudio, Trimarchi, Jeffrey M, Cepko, Constance L

“…Alternative splicing is the primary mechanism by which a limited number of protein-coding genes can generate proteome diversity. We have investigated the role…”
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Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia by Drake, Kyle D, Lemoine, Christopher, Aquino, Gabriela S, Vaeth, Anna M, Kanadia, Rahul N

“…Disruption of the minor spliceosome due to mutations in is linked to primordial dwarfism in microcephalic osteodysplastic primordial dwarfism type 1, Roifman…”
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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy by Lin, Xiaoyan, Miller, Jill W., Mankodi, Ami, Kanadia, Rahul N., Yuan, Yuan, Moxley, Richard T., Swanson, Maurice S., Thornton, Charles A.

“…In myotonic dystrophy (DM), expression of RNA containing expanded CUG or CCUG repeats leads to misregulated alternative splicing of pre-mRNA. The…”
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Trp53 ablation fails to prevent microcephaly in mouse pallium with impaired minor intron splicing by White, Alisa K, Baumgartner, Marybeth, Lee, Madisen F, Drake, Kyle D, Aquino, Gabriela S, Kanadia, Rahul N

“…Minor spliceosome inhibition due to mutations in RNU4ATAC are linked to primary microcephaly. Ablation of Rnu11, which encodes a minor spliceosome snRNA,…”
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Axon TRAP reveals learning-associated alterations in cortical axonal mRNAs in the lateral amgydala by Ostroff, Linnaea E, Santini, Emanuela, Sears, Robert, Deane, Zachary, Kanadia, Rahul N, LeDoux, Joseph E, Lhakhang, Tenzin, Tsirigos, Aristotelis, Heguy, Adriana, Klann, Eric

“…Local translation can support memory consolidation by supplying new proteins to synapses undergoing plasticity. Translation in adult forebrain dendrites is an…”
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Minor intron splicing is critical for survival of lethal prostate cancer by Augspach, Anke, Drake, Kyle D., Roma, Luca, Qian, Ellen, Lee, Se Ri, Clarke, Declan, Kumar, Sushant, Jaquet, Muriel, Gallon, John, Bolis, Marco, Triscott, Joanna, Galván, José A., Chen, Yu, Thalmann, George N., Kruithof-de Julio, Marianna, Theurillat, Jean-Philippe P., Wuchty, Stefan, Gerstein, Mark, Piscuoglio, Salvatore, Kanadia, Rahul N., Rubin, Mark A.

“…The evolutionarily conserved minor spliceosome (MiS) is required for protein expression of ∼714 minor intron-containing genes (MIGs) crucial for cell-cycle…”
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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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