Search Results - "Pearson, Christopher"

Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities by Pearson, Christopher E

“…Diseases associated with unstable repetitive elements in the DNA, RNA, and amino acids have consistently revealed scientific surprises. Most diseases are…”
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Molecular genetics of congenital myotonic dystrophy by Lanni, Stella, Pearson, Christopher E.

“…Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease showing strong genetic anticipation, and is caused by the expansion of a CTG repeat tract in the…”
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Disease-associated repeat instability and mismatch repair by Schmidt, Monika H.M., Pearson, Christopher E.

“…•The breadth of mismatch repair proteins involved in modifying disease-associated repeat instability now includes MSH2, MSH3, MSH6, MLH1, MLH3, and PMS2.•MMR…”
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Pathogenic CANVAS-causing but not nonpathogenic RFC1 DNA/RNA repeat motifs form quadruplex or triplex structures by Abdi, Mohammad Hossein, Zamiri, Bita, Pazuki, Gholamreza, Sardari, Soroush, Pearson, Christopher E.

“…Biallelic expansions of various tandem repeat sequence motifs are possible in RFC1 (replication factor C subunit 1), encoding the DNA replication/repair…”
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Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31 by Ishiguro, Taro, Sato, Nozomu, Ueyama, Morio, Fujikake, Nobuhiro, Sellier, Chantal, Kanegami, Akemi, Tokuda, Eiichi, Zamiri, Bita, Gall-Duncan, Terence, Mirceta, Mila, Furukawa, Yoshiaki, Yokota, Takanori, Wada, Keiji, Taylor, J. Paul, Pearson, Christopher E., Charlet-Berguerand, Nicolas, Mizusawa, Hidehiro, Nagai, Yoshitaka, Ishikawa, Kinya

“…Microsatellite expansion disorders are pathologically characterized by RNA foci formation and repeat-associated non-AUG (RAN) translation. However, their…”
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Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches by Pinto, Ricardo Mouro, Dragileva, Ella, Kirby, Andrew, Lloret, Alejandro, Lopez, Edith, St Claire, Jason, Panigrahi, Gagan B, Hou, Caixia, Holloway, Kim, Gillis, Tammy, Guide, Jolene R, Cohen, Paula E, Li, Guo-Min, Pearson, Christopher E, Daly, Mark J, Wheeler, Vanessa C

“…The Huntington's disease gene (HTT) CAG repeat mutation undergoes somatic expansion that correlates with pathogenesis. Modifiers of somatic expansion may…”
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Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences by Gall-Duncan, Terence, Sato, Nozomu, Yuen, Ryan K C, Pearson, Christopher E

“…Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a disease-causing mutation in humans, are now known to cause >60 phenotypes,…”
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The Disease-associated r(GGGGCC)n Repeat from the C9orf72 Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures by Reddy, Kaalak, Zamiri, Bita, Stanley, Sabrina Y.R., Macgregor, Robert B., Pearson, Christopher E.

“…Certain DNA and RNA sequences can form G-quadruplexes, which can affect promoter activity, genetic instability, RNA splicing, translation, and neurite mRNA…”
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Repeat instability as the basis for human diseases and as a potential target for therapy by Pearson, Christopher E, Castel, Arturo López, Cleary, John D

“…Several human neurological and neuromuscular diseases are caused by the expansion of repetitive DNA tracts. Understanding the DNA metabolic processes…”
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CtIP-BRCA1 complex and MRE11 maintain replication forks in the presence of chain terminating nucleoside analogs by Mohiuddin, Mohiuddin, Rahman, Md Maminur, Sale, Julian E, Pearson, Christopher E

“…Abstract Chain-terminating nucleoside analogs (CTNAs), which cannot be extended by DNA polymerases, are widely used as antivirals or anti-cancer agents, and…”
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CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy by Barbé, Lise, Lanni, Stella, López-Castel, Arturo, Franck, Silvie, Spits, Claudia, Keymolen, Kathelijn, Seneca, Sara, Tomé, Stephanie, Miron, Ioana, Letourneau, Julie, Liang, Minggao, Choufani, Sanaa, Weksberg, Rosanna, Wilson, Michael D., Sedlacek, Zdenek, Gagnon, Cynthia, Musova, Zuzana, Chitayat, David, Shannon, Patrick, Mathieu, Jean, Sermon, Karen, Pearson, Christopher E.

“…CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of severity and ages of onset. Congenital DM1 (CDM1), the most severe form,…”
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Interrupting sequence variants and age of onset in Huntington's disease: clinical implications and emerging therapies by Wright, Galen E B, Black, Hailey Findlay, Collins, Jennifer A, Gall-Duncan, Terence, Caron, Nicholas S, Pearson, Christopher E, Hayden, Michael R

“…Huntington's disease is a fatal neurodegenerative disorder that is caused by CAG-CAA repeat expansion, encoding polyglutamine, in the huntingtin (HTT) gene…”
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MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice by Tomé, Stéphanie, Manley, Kevin, Simard, Jodie P, Clark, Greg W, Slean, Meghan M, Swami, Meera, Shelbourne, Peggy F, Tillier, Elisabeth R M, Monckton, Darren G, Messer, Anne, Pearson, Christopher E

“…Expansions of trinucleotide CAG/CTG repeats in somatic tissues are thought to contribute to ongoing disease progression through an affected individual's life…”
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De novo mutations, genetic mosaicism and human disease by Mohiuddin, Mohiuddin, Kooy, R. Frank, Pearson, Christopher E.

“…Mosaicism—the existence of genetically distinct populations of cells in a particular organism—is an important cause of genetic disease. Mosaicism can appear as…”
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Fragile sites, chromosomal lesions, tandem repeats, and disease by Mirceta, Mila, Shum, Natalie, Schmidt, Monika H. M., Pearson, Christopher E.

“…Expanded tandem repeat DNAs are associated with various unusual chromosomal lesions, despiralizations, multi-branched inter-chromosomal associations, and…”
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Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues by Axford, Michelle M, Wang, Yuh-Hwa, Nakamori, Masayuki, Zannis-Hadjopoulos, Maria, Thornton, Charles A, Pearson, Christopher E

“…Slipped-strand DNAs, formed by out-of-register mispairing of repeat units on complementary strands, were proposed over 55 years ago as transient intermediates…”
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Genome-wide detection of tandem DNA repeats that are expanded in autism by Trost, Brett, Engchuan, Worrawat, Nguyen, Charlotte M., Thiruvahindrapuram, Bhooma, Dolzhenko, Egor, Backstrom, Ian, Mirceta, Mila, Mojarad, Bahareh A., Yin, Yue, Dov, Alona, Chandrakumar, Induja, Prasolava, Tanya, Shum, Natalie, Hamdan, Omar, Pellecchia, Giovanna, Howe, Jennifer L., Whitney, Joseph, Klee, Eric W., Baheti, Saurabh, Amaral, David G., Anagnostou, Evdokia, Elsabbagh, Mayada, Fernandez, Bridget A., Hoang, Ny, Lewis, M. E. Suzanne, Liu, Xudong, Sjaarda, Calvin, Smith, Isabel M., Szatmari, Peter, Zwaigenbaum, Lonnie, Glazer, David, Hartley, Dean, Stewart, A. Keith, Eberle, Michael A., Sato, Nozomu, Pearson, Christopher E., Scherer, Stephen W., Yuen, Ryan K. C.

“…Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded, these tandem DNA repeats have been associated with more than 40 monogenic…”
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Repeat instability: mechanisms of dynamic mutations by Pearson, Christopher E, Edamura, Kerrie Nichol, Cleary, John D

“…Disease-causing repeat instability is an important and unique form of mutation that is linked to more than 40 neurological, neurodegenerative and neuromuscular…”
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A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo by Nakamori, Masayuki, Panigrahi, Gagan B., Lanni, Stella, Gall-Duncan, Terence, Hayakawa, Hideki, Tanaka, Hana, Luo, Jennifer, Otabe, Takahiro, Li, Jinxing, Sakata, Akihiro, Caron, Marie-Christine, Joshi, Niraj, Prasolava, Tanya, Chiang, Karen, Masson, Jean-Yves, Wold, Marc S., Wang, Xiaoxiao, Lee, Marietta Y. W. T., Huddleston, John, Munson, Katherine M., Davidson, Scott, Layeghifard, Mehdi, Edward, Lisa-Monique, Gallon, Richard, Santibanez-Koref, Mauro, Murata, Asako, Takahashi, Masanori P., Eichler, Evan E., Shlien, Adam, Nakatani, Kazuhiko, Mochizuki, Hideki, Pearson, Christopher E.

“…In many repeat diseases, such as Huntington’s disease (HD), ongoing repeat expansions in affected tissues contribute to disease onset, progression and…”
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Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues by LOPEZ CASTEL, Arturo, NAKAMORI, Masayuki, TOME, Stephanie, CHITAYAT, David, GOURDON, Geneviève, THORNTON, Charles A, PEARSON, Christopher E

“…Myotonic dystrophy (DM1) affects multiple organs, shows age-dependent progression and is caused by CTG expansions at the DM1 locus. We determined the DM1 CpG…”
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