Journal articles on the topic 'Expanded repeat diseases'
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Polak, Urszula, Elizabeth McIvor, Sharon Y. R. Dent, Robert D. Wells, and Marek Napierala. "Expanded complexity of unstable repeat diseases." BioFactors 39, no. 2 (December 11, 2012): 164–75. http://dx.doi.org/10.1002/biof.1060.
Full textYang, Su, Huiming Yang, Luoxiu Huang, Luxiao Chen, Zhaohui Qin, Shihua Li, and Xiao-Jiang Li. "Lack of RAN-mediated toxicity in Huntington’s disease knock-in mice." Proceedings of the National Academy of Sciences 117, no. 8 (February 6, 2020): 4411–17. http://dx.doi.org/10.1073/pnas.1919197117.
Full textFujino, Yuzo, and Yoshitaka Nagai. "The molecular pathogenesis of repeat expansion diseases." Biochemical Society Transactions 50, no. 1 (December 23, 2021): 119–34. http://dx.doi.org/10.1042/bst20200143.
Full textLoureiro, Joana R., Ana F. Castro, Ana S. Figueiredo, and Isabel Silveira. "Molecular Mechanisms in Pentanucleotide Repeat Diseases." Cells 11, no. 2 (January 8, 2022): 205. http://dx.doi.org/10.3390/cells11020205.
Full textEyk, Clare L. van, Saumya E. Samaraweera, Andrew Scott, Dani L. Webber, David P. Harvey, Olivia Mecinger, Louise V. O’Keefe, et al. "Non-self mutation: double-stranded RNA elicits antiviral pathogenic response in a Drosophila model of expanded CAG repeat neurodegenerative diseases." Human Molecular Genetics 28, no. 18 (May 9, 2019): 3000–3012. http://dx.doi.org/10.1093/hmg/ddz096.
Full textMaritska, Ziske, Baharudin Baharudin, Ardy Santosa, Ching Leng Kee, Tan Yue Ming, and Sultana MH Faradz. "Screening A Trinucleotide Repeat Expansion: How precise PCR can be?" Bioscientia Medicina : Journal of Biomedicine and Translational Research 3, no. 3 (August 31, 2019): 34–40. http://dx.doi.org/10.32539/bsm.v3i3.94.
Full textO'Donovan, M. C., C. Guy, N. Craddock, T. Bowen, P. McKeon, A. Macedo, W. Maier, et al. "Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder." Psychological Medicine 26, no. 6 (November 1996): 1145–53. http://dx.doi.org/10.1017/s0033291700035868.
Full textGleason, Alec C., Ghanashyam Ghadge, Jin Chen, Yoshifumi Sonobe, and Raymond P. Roos. "Machine learning predicts translation initiation sites in neurologic diseases with nucleotide repeat expansions." PLOS ONE 17, no. 6 (June 1, 2022): e0256411. http://dx.doi.org/10.1371/journal.pone.0256411.
Full textGorbunova, Vera, Andrei Seluanov, Vincent Dion, Zoltan Sandor, James L. Meservy, and John H. Wilson. "Selectable System for Monitoring the Instability of CTG/CAG Triplet Repeats in Mammalian Cells." Molecular and Cellular Biology 23, no. 13 (July 1, 2003): 4485–93. http://dx.doi.org/10.1128/mcb.23.13.4485-4493.2003.
Full textZhao, Xiaonan, Daman Kumari, Carson J. Miller, Geum-Yi Kim, Bruce Hayward, Antonia G. Vitalo, Ricardo Mouro Pinto, and Karen Usdin. "Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease." Journal of Huntington's Disease 10, no. 1 (February 9, 2021): 149–63. http://dx.doi.org/10.3233/jhd-200423.
Full textMizuguchi, Takeshi, Tomoko Toyota, Satoko Miyatake, Satomi Mitsuhashi, Hiroshi Doi, Yosuke Kudo, Hitaru Kishida, et al. "Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment." Brain 144, no. 4 (April 1, 2021): 1103–17. http://dx.doi.org/10.1093/brain/awab021.
Full textRubinsztein, David C., Bill Amos, and Gillian Cooper. "Microsatellite and trinucleotide-repeat evolution: evidence for mutational bias and different rates of evolution in different lineages." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1386 (June 29, 1999): 1095–99. http://dx.doi.org/10.1098/rstb.1999.0465.
Full textDeJesus-Hernandez, Mariely, Ross A. Aleff, Jazmyne L. Jackson, NiCole A. Finch, Matthew C. Baker, Tania F. Gendron, Melissa E. Murray, et al. "Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases." Brain 144, no. 4 (April 1, 2021): 1082–88. http://dx.doi.org/10.1093/brain/awab006.
Full textJarjanazi, Hamdi, Hong Li, Irene L. Andrulis, and Hilmi Ozcelik. "Genome Wide Screening of CAG Trinucleotide Repeat Lengths in Breast Cancer." Disease Markers 22, no. 5-6 (2006): 343–49. http://dx.doi.org/10.1155/2006/951857.
Full textSu, Xiaofeng A., and Catherine H. Freudenreich. "Cytosine deamination and base excision repair cause R-loop–induced CAG repeat fragility and instability in Saccharomyces cerevisiae." Proceedings of the National Academy of Sciences 114, no. 40 (September 18, 2017): E8392—E8401. http://dx.doi.org/10.1073/pnas.1711283114.
Full textJohnson, Sean L., Matthew V. Prifti, Alyson Sujkowski, Kozeta Libohova, Jessica R. Blount, Luke Hong, Wei-Ling Tsou, and Sokol V. Todi. "Drosophila as a Model of Unconventional Translation in Spinocerebellar Ataxia Type 3." Cells 11, no. 7 (April 4, 2022): 1223. http://dx.doi.org/10.3390/cells11071223.
Full textZhao, Xiaonan, and Karen Usdin. "(Dys)function Follows Form: Nucleic Acid Structure, Repeat Expansion, and Disease Pathology in FMR1 Disorders." International Journal of Molecular Sciences 22, no. 17 (August 25, 2021): 9167. http://dx.doi.org/10.3390/ijms22179167.
Full textLawlor, Kynan T., Louise V. O'Keefe, Saumya E. Samaraweera, Clare L. van Eyk, Catherine J. McLeod, Christopher A. Maloney, Thurston H. Y. Dang, Catherine M. Suter, and Robert I. Richards. "Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases." Human Molecular Genetics 20, no. 19 (June 30, 2011): 3757–68. http://dx.doi.org/10.1093/hmg/ddr292.
Full textLieberman, Andrew P., Vikram G. Shakkottai, and Roger L. Albin. "Polyglutamine Repeats in Neurodegenerative Diseases." Annual Review of Pathology: Mechanisms of Disease 14, no. 1 (January 24, 2019): 1–27. http://dx.doi.org/10.1146/annurev-pathmechdis-012418-012857.
Full textJoachimiak, Paweł, Adam Ciesiołka, Grzegorz Figura, and Agnieszka Fiszer. "Implications of Poly(A) Tail Processing in Repeat Expansion Diseases." Cells 11, no. 4 (February 15, 2022): 677. http://dx.doi.org/10.3390/cells11040677.
Full textGalka-Marciniak, Paulina, Martyna O. Urbanek, and Wlodzimierz J. Krzyzosiak. "Triplet repeats in transcripts: structural insights into RNA toxicity." Biological Chemistry 393, no. 11 (November 1, 2012): 1299–315. http://dx.doi.org/10.1515/hsz-2012-0218.
Full textDavies, Philippa, Kate Watt, Sharon M. Kelly, Caroline Clark, Nicholas C. Price, and Iain J. McEwan. "Consequences of poly-glutamine repeat length for the conformation and folding of the androgen receptor amino-terminal domain." Journal of Molecular Endocrinology 41, no. 5 (September 1, 2008): 301–14. http://dx.doi.org/10.1677/jme-08-0042.
Full textDonaldson, Jasmine, Sophie Powell, Nadia Rickards, Peter Holmans, and Lesley Jones. "What is the Pathogenic CAG Expansion Length in Huntington’s Disease?" Journal of Huntington's Disease 10, no. 1 (February 9, 2021): 175–202. http://dx.doi.org/10.3233/jhd-200445.
Full textGroh, Matthias, Lara Marques Silva, and Natalia Gromak. "Mechanisms of transcriptional dysregulation in repeat expansion disorders." Biochemical Society Transactions 42, no. 4 (August 1, 2014): 1123–28. http://dx.doi.org/10.1042/bst20140049.
Full textNinomiya, Kensuke, and Tetsuro Hirose. "Short Tandem Repeat-Enriched Architectural RNAs in Nuclear Bodies: Functions and Associated Diseases." Non-Coding RNA 6, no. 1 (February 20, 2020): 6. http://dx.doi.org/10.3390/ncrna6010006.
Full textArning, Larissa, and Huu Phuc Nguyen. "Huntington disease update: new insights into the role of repeat instability in disease pathogenesis." Medizinische Genetik 33, no. 4 (December 1, 2021): 293–300. http://dx.doi.org/10.1515/medgen-2021-2101.
Full textHigham, Catherine F., and Darren G. Monckton. "Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease." Journal of The Royal Society Interface 10, no. 88 (November 6, 2013): 20130605. http://dx.doi.org/10.1098/rsif.2013.0605.
Full textStochmanski, Shawn J., François Blondeau, Martine Girard, Pascale Hince, Daniel Rochefort, Claudia Gaspar, Patrick A. Dion, Peter S. McPherson, and Guy A. Rouleau. "A polyalanine antibody for the diagnosis of oculopharyngeal muscular dystrophy and polyalanine-related diseases." MNI Open Research 1 (December 5, 2017): 1. http://dx.doi.org/10.12688/mniopenres.12765.1.
Full textWang, Eric T., Daniel Treacy, Katy Eichinger, Adam Struck, Joseph Estabrook, Hailey Olafson, Thomas T. Wang, et al. "Transcriptome alterations in myotonic dystrophy skeletal muscle and heart." Human Molecular Genetics 28, no. 8 (December 17, 2018): 1312–21. http://dx.doi.org/10.1093/hmg/ddy432.
Full textKonopka, Anna, and Julie Atkin. "The Emerging Role of DNA Damage in the Pathogenesis of the C9orf72 Repeat Expansion in Amyotrophic Lateral Sclerosis." International Journal of Molecular Sciences 19, no. 10 (October 12, 2018): 3137. http://dx.doi.org/10.3390/ijms19103137.
Full textSinnreich, Michael, Eric J. Sorenson, and Christopher J. Klein. "Neurologic Course, Endocrine Dysfunction and Triplet Repeat Size in Spinal Bulbar Muscular Atrophy." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 31, no. 3 (August 2004): 378–82. http://dx.doi.org/10.1017/s0317167100003486.
Full textKawakubo, Kosuke, Susumu Ikenoshita, Kazuya Matsuo, Sefan Asamitsu, Yasushi Yabuki, Hiroshi Sugiyama, and Norifumi Shioda. "Therapeutic targeting expanded DNA using cyclic pyrrole-imidazole polyamide in CAG/CTG triplet repeat neurological diseases." Proceedings for Annual Meeting of The Japanese Pharmacological Society 95 (2022): 1—SS—27. http://dx.doi.org/10.1254/jpssuppl.95.0_1-ss-27.
Full textMaduro, Maria Rosa, Roberto Casella, Alex G. Smith, and Dolores J. Lamb. "Increased incidence of triplet repeat diseases expanded alleles in azoospermic men: a new concern for ICSI?" Fertility and Sterility 78 (September 2002): S32. http://dx.doi.org/10.1016/s0015-0282(02)03465-9.
Full textMousavi, Nima, Sharona Shleizer-Burko, Richard Yanicky, and Melissa Gymrek. "Profiling the genome-wide landscape of tandem repeat expansions." Nucleic Acids Research 47, no. 15 (June 13, 2019): e90-e90. http://dx.doi.org/10.1093/nar/gkz501.
Full textde Pontual, Laure, and Stéphanie Tomé. "Overview of the Complex Relationship between Epigenetics Markers, CTG Repeat Instability and Symptoms in Myotonic Dystrophy Type 1." International Journal of Molecular Sciences 23, no. 7 (March 23, 2022): 3477. http://dx.doi.org/10.3390/ijms23073477.
Full textFurtado, Gabriel Vasata, Jing Yang, Di Wu, Christos I. Papagiannopoulos, Hanna M. Terpstra, E. F. Elsiena Kuiper, Sybille Krauss, Wei-Guo Zhu, Harm H. Kampinga, and Steven Bergink. "FOXO1 controls protein synthesis and transcript abundance of mutant polyglutamine proteins, preventing protein aggregation." Human Molecular Genetics 30, no. 11 (April 2, 2021): 996–1005. http://dx.doi.org/10.1093/hmg/ddab095.
Full textRANKIN, Julia, Andreas WYTTENBACH, and David C. RUBINSZTEIN. "Intracellular green fluorescent protein–polyalanine aggregates are associated with cell death." Biochemical Journal 348, no. 1 (May 9, 2000): 15–19. http://dx.doi.org/10.1042/bj3480015.
Full textShreen, Sara, Mohammed Baleeqh Uddin, Mir Salman Ali, and Zoha Sultana. "The Role of Antiplatelet agents in ischemic events." Journal of Drug Delivery and Therapeutics 11, no. 4-S (August 15, 2021): 187–94. http://dx.doi.org/10.22270/jddt.v11i4-s.4926.
Full textMatlahov, Irina, and Patrick CA van der Wel. "Conformational studies of pathogenic expanded polyglutamine protein deposits from Huntington’s disease." Experimental Biology and Medicine 244, no. 17 (June 15, 2019): 1584–95. http://dx.doi.org/10.1177/1535370219856620.
Full textZhang, Nan, and Tetsuo Ashizawa. "Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions." Cells 11, no. 9 (May 6, 2022): 1567. http://dx.doi.org/10.3390/cells11091567.
Full textTruant, Ray, Lynn A. Raymond, Jianrun Xia, Deborah Pinchev, Anjee Burtnik, and Randy Singh Atwal. "Canadian Association of Neurosciences Review: Polyglutamine Expansion Neurodegenerative Diseases." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 33, no. 3 (August 2006): 278–91. http://dx.doi.org/10.1017/s031716710000514x.
Full textRaaijmakers, Renée H. L., Lise Ripken, C. Rosanne M. Ausems, and Derick G. Wansink. "CRISPR/Cas Applications in Myotonic Dystrophy: Expanding Opportunities." International Journal of Molecular Sciences 20, no. 15 (July 27, 2019): 3689. http://dx.doi.org/10.3390/ijms20153689.
Full textCoarelli, Giulia, Alhassane Diallo, Morgane Sonia Thion, Daisy Rinaldi, Fabienne Calvas, Ouahid Lagha Boukbiza, Alina Tataru, et al. "Low cancer prevalence in polyglutamine expansion diseases." Neurology 88, no. 12 (February 15, 2017): 1114–19. http://dx.doi.org/10.1212/wnl.0000000000003725.
Full textGkekas, Ioannis, Anna Gioran, Marina Kleopatra Boziki, Nikolaos Grigoriadis, Niki Chondrogianni, and Spyros Petrakis. "Oxidative Stress and Neurodegeneration: Interconnected Processes in PolyQ Diseases." Antioxidants 10, no. 9 (September 13, 2021): 1450. http://dx.doi.org/10.3390/antiox10091450.
Full textXu, Jun, Jenny Chong, and Dong Wang. "Opposite roles of transcription elongation factors Spt4/5 and Elf1 in RNA polymerase II transcription through B-form versus non-B DNA structures." Nucleic Acids Research 49, no. 9 (April 20, 2021): 4944–53. http://dx.doi.org/10.1093/nar/gkab240.
Full textZuo, Lingyan, Weiqian Li, Jifang Shi, Yingzhen Su, Hongyan Shuai, and Xin Yu. "SynB3 Conjugated QBP1 Passes Blood-Brain Barrier Models and Inhibits PolyQ Protein Aggregation." Protein & Peptide Letters 29, no. 1 (January 2022): 110–20. http://dx.doi.org/10.2174/0929866529666211221163930.
Full textIyer, Shalini, K. Ravi Acharya, and Vasanta Subramanian. "A comparative bioinformatic analysis of C9orf72." PeerJ 6 (February 19, 2018): e4391. http://dx.doi.org/10.7717/peerj.4391.
Full textZhang, Shugang, Qixing Gong, Di Wu, Yun Tian, Lu Shen, Jie Lu, Ligang Xu, Hao Gu, Jianxia Xu, and Weiguo Liu. "Genetic and Pathological Characteristic Patterns of a Family With Neuronal Intranuclear Inclusion Disease." Journal of Neuropathology & Experimental Neurology 79, no. 12 (November 26, 2020): 1293–302. http://dx.doi.org/10.1093/jnen/nlaa142.
Full textFischbeck, Kenneth H., Andrew Lieberman, Christine K. Bailey, Annette Abel, and Diane E. Merry. "Androgen receptor mutation in Kennedy'sdisease." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, no. 1386 (June 29, 1999): 1075–78. http://dx.doi.org/10.1098/rstb.1999.0461.
Full textHO, L. W., J. CARMICHAEL, J. SWARTZ, A. WYTTENBACH, J. RANKIN, and D. C. RUBINSZTEIN. "The molecular biology of Huntington's disease." Psychological Medicine 31, no. 1 (January 2001): 3–14. http://dx.doi.org/10.1017/s0033291799002871.
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