Search Results - "PEARSON, Christopher E"

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…”
Get full text

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…”
Get full text

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…”
Get full text

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,…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

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…”
Get full text

Genome-wide tandem repeat expansions contribute to schizophrenia risk by Mojarad, Bahareh A., Engchuan, Worrawat, Trost, Brett, Backstrom, Ian, Yin, Yue, Thiruvahindrapuram, Bhooma, Pallotto, Linda, Mitina, Aleksandra, Khan, Mahreen, Pellecchia, Giovanna, Haque, Bushra, Guo, Keyi, Heung, Tracy, Costain, Gregory, Scherer, Stephen W., Marshall, Christian R., Pearson, Christopher E., Bassett, Anne S., Yuen, Ryan K. C.

“…Tandem repeat expansions (TREs) can cause neurological diseases but their impact in schizophrenia is unclear. Here we analyzed genome sequences of adults with…”
Get full text

CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral–pallidoluysian atrophy by Hasuike, Yuhei, Tanaka, Hana, Gall-Duncan, Terence, Mehkary, Mustafa, Nakatani, Kazuhiko, Pearson, Christopher E., Tsuji, Shoji, Mochizuki, Hideki, Nakamori, Masayuki

“…Dentatorubral–pallidoluysian atrophy (DRPLA) is a devastating genetic disease presenting myoclonus, epilepsy, ataxia, and dementia. DRPLA is caused by the…”
Get full text

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…”
Get full text

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,…”
Get full text

Bidirectional transcription stimulates expansion and contraction of expanded (CTG)•(CAG) repeats by NAKAMORI, Masayuki, PEARSON, Christopher E, THORNTON, Charles A

“…More than 12 neurogenetic disorders are caused by unstable expansions of (CTG)•(CAG) repeats. The expanded repeats are unstable in germline and somatic cells,…”
Get full text

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…”
Get full text

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability by Reddy, Kaalak, Schmidt, Monika H M, Geist, Jaimie M, Thakkar, Neha P, Panigrahi, Gagan B, Wang, Yuh-Hwa, Pearson, Christopher E

“…R-loops, transcriptionally-induced RNA:DNA hybrids, occurring at repeat tracts (CTG)n, (CAG)n, (CGG)n, (CCG)n and (GAA)n, are associated with diseases…”
Get full text

RAN Translation: Fragile X in the Running by Reddy, Kaalak, Pearson, Christopher E.

“…In this issue of Neuron, Todd et al. (2013) reveal that noncanonical repeat associated non-AUG (RAN) translation occurs on nonexpanded (CGG)30–50 and…”
Get full text