Repeat instability: mechanisms of dynamic mutations
DOI 10.1038/nrg1689
Cited by (926)
Items 801–900 of 926
- Analysis of the Formation, Binding and Processing of Alternative Nucleic Acid Structures in Disease-Associated Repeat SequencesKaalak Reddy · 2014 · TSpace (University of Toronto)
- IL RUOLO DELL�HUNTINGTINA NELLA FISIOLOGIA DEL DIFFERENZIAMENTO NEURONALE E NELLA PATOLOGIAStefano Camnasio · 2014 · Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)
- Prediction of Single Nucleotide Mutation Patterns in MicrosatellitesJun Tan, Cheng Ouyang, Jun Myoung Yu · 2015 · Lecture notes in computer science
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- Engineered Nucleases and Trinucleotide Repeat DiseasesJohn H. Wilson, Christopher Moye, David Mittelman · 2016 · Advances in experimental medicine and biology
- Cis-elements Affecting Disease-associated Repeat SequencesKatharine A. Hagerman · 2010 · TSpace (University of Toronto)
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- Excision repair deficiencies in man and mice; lessons from CSA and Fen1 mutantsLiv Kleppa · 2011 · NORA - Norwegian Open Research Archives
- Error-Prone Repair of Slipped (CTG)·(CAG) Repeats and Disease-Associated ExpansionsGagan B. Panigrahi, Rachel Lau, Sean Montgomery, Michelle R. Leonard, Julien L. Marcadier, Mariana Kekis, Caroline Vosch, Andrea Todd, Christopher E. Pearson · 2006 · Elsevier eBooks
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- Aberrant DNA Replication at an Ectopic Chromosomal Site in Human CellsXiaomi Chen · 2011 · OhioLink ETD Center (Ohio Library and Information Network)
- DNA-Reparatur und MutageneseWolfgang Goedecke, Petra Pfeiffer · 2008 · Springer eBooks
- Functional significance of unique sequences in Mycobaterium smegmatis Ku proteinsAmbuj Kumar Kushwaha · 2013
- Trinucleotide Repeat Instability is Modulated by DNA Base Lesions and DNA Base Excision RepairJill M. Beaver · 2016 · FIU - Digital Commons (Florida International University)
- Comparison of Two Congenital Myotonic Dystrophy Groups According to the Number of CTG Trinucleotide Copies on Clinical Characteristics and OutcomesIn Ji Hwang, Hyun Ok Lee, Ha Jin Oh, Eun Song Song, Young Youn Choi · 2017 · Perinatology
- Investigation of the Epigenetic Landscape at Disease-causing Polymorphic Repeat LociKelly Rachel Mador-House · 2014 · TSpace (University of Toronto)
- A premature baby with bilateral pleural effusions, Turner syndrome (monosomy X) and myotonic dystrophyLi Jun Thean, Tieh Hee Hai Guan Koh · 2017 · Case Reports in Perinatal Medicine
- Thermodynamic Analyses of G-Quadruplexes Formed by DNA Molecules Containing Four Repeats of the Human Telomeric SequenceLi Yang · 2017 · TSpace (University of Toronto)
- Defective DNA Repair in SpermiogenesisTiphanie Cavé, Olivier Simard, Marie-Chantal Grégoire, Guylain Boissonneault · 2018 · Springer eBooks
- Vestibulo-ocular function in patients with sporadic ataxiaBianca Simone Zeigelboim, Kairone Fernandes Kronbauer, Anylize Wachholz Vom Scheidt, Hélio Afonso Ghizoni Teive, Vinícius Ribas Fonseca, Jair Mendes Marques · 2018 · Hearing Balance and Communication
- Chiral DNA sequences as commutable reference standards for clinical genomicsIra W. Deveson, Bindu Swapna Madala, James Blackburn, Chris Barker, Ted Wong, Kirston Barton, Martin A. Smith, D. Neil Watkins, Tim R. Mercer · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
- Algorithms for structural variation discovery using multiple sequence signaturesArda Söylev · 2018 · Bilkent University Institutional Repository (Bilkent University)
- iGAP: Interactive Genomic Analysis PlatformAgnieszka Szmurło, Marek S. Wiewiórka, Tomasz Gambin · 2018 · Photonics Applications in Astronomy, Communications, Industry, and High-Energy Physics Experiments (WILGA)
- Disease Modeling and Drug Development with DM1 Patient-Derived iPS CellsToshiyuki Araki, Masayoshi Kamon, Hidetoshi Sakurai · 2018 · Springer eBooks
- Molecular Defects in the DM Central Nervous SystemTakashi Kimura · 2018 · Springer eBooks
- Trinucleotide Repeat Instability Modulated by DNA Repair Enzymes and CofactorsYaou Ren · 2018 · FIU - Digital Commons (Florida International University)
- Expandable DNA Repeat and Human Hereditary DisordersShahin Ramazi, Ali Fasihi, Maryam Godarziyan, Morteza Hashemzadeh Chaleshtori · 2016 · DOAJ (DOAJ: Directory of Open Access Journals)
- The Genetic Architecture Of Variation In Humans And DogsEldon Goodwin Prince · 2017 · UTA ResearchCommons (University of Texas Arlington)
- Pure-Tone Hearing Thresholds and Brainstem Auditory Evoked Potentials in Sporadic AtaxiaBianca Simone Zeigelboim, Anylize Wachholz Vom Scheidt, Kairone Fernandes Kronbauer, Paulo Breno Noronha Liberalesso, Maria Renata José, Vinícius Ribas Fonseca, Hélio Afonso Ghizoni Teive · 2019 · International Archives of Otorhinolaryngology
- Development of forensic genomics research toolkits by the use of Massively Parallel Sequencingvan der Gaag · 2019
- Chemical Probing of Thymine in the TGG/CGG Triad to Explore the Deamination of 5-Methylcytosine in the CGG RepeatYuki Yagi, Takeshi Yamada, Kazuhiko Nakatani · 2020 · Biochemistry
- The effect of nucleic acid-binding ligands on CTG/CAG repeat DNA metabolism in vitroKaren Chiang · 2018 · TSpace (University of Toronto)
- Polimorfismo nos loci ATXN2, CACNA1A e ATN1 : um estudo de potenciais genes modificadores da doença de Machado-Joseph em indivíduos açorianos saudáveisAna Filipa, Bartolomeu Ferreira · 2012
- "Estabilidade Alélica dos Marcadores Forenses nas Leucemias"Cláudio Veloso Batista · 2011 · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
- Identification de nouveaux facteurs entraînant des contractions CTG.CAG dans la dystrophie myotonique de type 1Laure de Pontual, Geneviève Gourdon, Stéphanie Tomé · 2021 · médecine/sciences
- References2020 · Wiley eBooks
- Autosomal Dominant Spinocerebellar Ataxias and Episodic AtaxiasFranco Taroni, Luisa Chiapparini, Caterina Mariotti · 2021 · Springer eBooks
- Faculty Opinions recommendation of FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat.Charalambos Panayiotis Kyriacou · 2018 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- Trinucleotide Repeat DiseaseSimon C. Warby, Alicia Semaka, Michael R. Hayden · 2008 · Springer eBooks
- Genomic Disorder and Gene Expression in the Developing CNS☆Gwendolyn E. Kaeser, Hope Mirendil, Benjamin A. Siddoway, Suzanne Rohrback, C.M. Westra, Jerold J. M. Chun · 2015 · Elsevier eBooks
- Peer Review #2 of "SSREnricher: a computational approach for large-scale identification of polymorphic microsatellites based on comparative transcriptome analysis (v0.2)"2020 · PeerJ
- Peer Review #2 of "SSREnricher: a computational approach for large-scale identification of polymorphic microsatellites based on comparative transcriptome analysis (v0.1)"2020 · PeerJ
- Peer Review #1 of "SSREnricher: a computational approach for large-scale identification of polymorphic microsatellites based on comparative transcriptome analysis (v0.2)"2020 · PeerJ
- ChannelopathiesRichard T. Moxley, Chad Rydel Heatwole · 2012 · Elsevier eBooks
- Peer Review #1 of "SSREnricher: a computational approach for large-scale identification of polymorphic microsatellites based on comparative transcriptome analysis (v0.1)"2020 · PeerJ
- MutationSujita Kumar Kar, Sarvodaya Tripathy · 2019 · Springer eBooks
- MutationSujita Kumar Kar, Sarvodaya Tripathy · 2021 · Springer eBooks
- Molecular and genetic analysis of spinocerebellar ataxia type 10 (SCA10)Tohru Matsuura · 2008 · Rinsho Shinkeigaku
- Faculty Opinions recommendation of Evolutionary origins of pseudogenes and their association with regulatory sequences in plants.Arthur Korte · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
- Genetic Disorders: Single GeneElena L. Grigorenko · 2019 · Elsevier eBooks
- Genomic Disorder and Gene Expression in the Developing CNSCindy Paczkowski, Jerold J. M. Chun · 2009 · Elsevier eBooks
- Small Molecules Targeting Repeat Sequences Causing Neurological DisordersBimolendu Das, T. Shibata, Kazuhiko Nakatani · 2022 · Springer eBooks
- Exploring Fish Miscellany from Biodiversity Hotspot Region of Northeast India Through Chromosome ProfilingBasdeo Kushwaha, Dandadhar Sarma, Banasri Mech, Sanjeev Kumar, Vishwamitra Singh Baisvar, Avinash Tiwari, Hrishikesh Choudhury, Ravindra Kumar · 2022 · Croatian Journal of Fisheries
- Intronic TNR-Retained Isopropylmalate Isomerase Large Subunit1 transcripts impair leaf development in ArabidopsisYimeng Li, Rui Li, Kensuke Kawade, Muneo Sato, Ayuko Kuwahara, Ryosuke Sasaki, Akira Oikawa, Hirokazu Tsukaya, Masami Yokota Hirai · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
- Effects of genetic variation on the structure of biological macromoleculesJingxuan Kang, Siyu Wei, Zhe Jia, Yingnan Ma, Haiyan Chen, Chen Sun, Jing Xu, Junxian Tao, Yu Dan Dong, Wenhua Lv et al. · 2023
- DNA Replication Stress and Genome Instability in Breast CancerKirti Sinha, Pau Biak Sang, Priyanka Sharma, Rishi Kumar Jaiswal · 2023 · Wiley eBooks
- GenoSSRFinder: a tool for rapid, precise, and targeted simple sequence repeat detection in genomic studiesMohammad S. Alhawatema · 2023 · Brazilian Journal of Biology
- eLife Assessment: Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's diseaseGene Wei-Ming Yeo · 2023 · eLife
- Reviewer #3 (Public Review): Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's disease2023 · eLife
- Effects of genetic variation on the structure of RNA and proteinJingxuan Kang, Siyu Wei, Zhe Jia, Yingnan Ma, Haiyan Chen, Chen Sun, Jing Xu, Junxian Tao, Yu Dan Dong, Wenhua Lv et al. · 2024 · PROTEOMICS
- LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsJinfeng Lü, Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam, Raquel L. Alvarez, Justin C. Alvey, Laura M. Amendola, Ashley Andrews et al. · 2024 · BMC Genomics
- How effective is direct targeting of genes instead of gene products in providing promising lead: Lessons from discovery of naphthyridine-azaquinilone as lead for Huntington ’s diseaseTapan Kumar Mistri, S. Porwal · 2024 · AIP conference proceedings
- Additional file 1 of Genome-wide characterization of microsatellite DNA in fishes: survey and analysis of their abundance and frequency in genome-specific regionsYi Lei, Yu Guang Zhou, Megan Price, Zhaobin Song · 2021 · Figshare
- Additional file 2 of Genome-wide characterization of microsatellite DNA in fishes: survey and analysis of their abundance and frequency in genome-specific regionsYi Lei, Yu Guang Zhou, Megan Price, Zhaobin Song · 2021 · Figshare
- Repeats in GenomesLaxmi Kata, Gourab Das · 2024 · Elsevier eBooks
- Genetic modifiers of age-related penetrance in X-linked dystonia-parkinsonismBjörn‐Hergen Laabs, Ana Westenberger · 2024 · Elsevier eBooks
- Mendelian, non-Mendelian, multigenic inheritance, and epigeneticsTamar Harel, James R. Lupski · 2024 · Elsevier eBooks
- The pathophysiology of neurodegenerative diseases: The back effects of oxidative stress and antioxidants systemSamir Bikri, Youssef Aboussaleh, Farida Fouad · 2024 · Elsevier eBooks
- Identifying associations between short tandem repeat sequences and gene expression in yeast reveals specific repeated motifs encoding transcriptional regulatory proteinsZongyuan Yu, Yating Liang, Meida Xiang, Kang Xu, Xiang Xu, Dongyang Ran, Yawen Luo, Bijia Chen, Xiaochen Bo, Hebing Chen · 2025 · Computational and Structural Biotechnology Journal
- Aberrant Short Tandem Repeats: Pathogenicity, Mechanisms, Detection, and Roles in Neuropsychiatric DisordersYuzhong Liu, Kun Xia · 2025 · Genes
- MASTR-Seq: Multiplexed Analysis of Short Tandem Repeats with SequencingSu Chuanbin, Han-Seul Ryu, Keerthivasan Raanin Chandradoss, Thomas Malachowski, Ravi Boya, Hoa Emma Nguyen, Esteban O. Mazzoni, Kristen Brennand, Jennifer E. Phillips‐Cremins · 2025 · SSRN Electronic Journal
- Comparative Study of the Bending Free Energies of C- and G-Based DNA: A-, B-, and Z-DNA and Associated Mismatched Trinucleotide RepeatsAshkan Fakharzadeh, Mahmoud Moradi, Celeste Sagui, Christopher Roland · 2025 · Journal of Chemical Information and Modeling
- Molecular mechanisms of reactive oxygen species in neurodegenerative diseases (Alzheimer, Parkinson, etc.)Sanja V. Gluščević · 2025 · Elsevier eBooks
- Short tandem repeats and tandem repeat disordersRunze Ma, Tiancheng Liu, Bing Zhu · 2025 · Scientia Sinica Vitae
- Birth–Death Dynamics of Microsatellites: Mechanistic Insights from Orthologous Loci in FelidaeWenping Zhang, M.H. Zhang, Hao Liu · 2025 · Genes
- Inhibiting Cytosine-Adenine-Guanine (CAG) repeat expansions as a therapeutic strategy for Huntington’s diseaseRaymond J. Winquist, Bruce Church · 2025 · Biochemical Pharmacology
- Expansion of human disease causing triplet repeats in vertebrate genomes: an evolutionary perspectiveSaketh Murthy, Rakesh K. Mishra · 2025 · Proceedings of the Indian National Science Academy
- Small Molecule Modulation of APOBEC3A-Catalyzed Cytosine Deamination in CCG Repeat Deoxyribonucleic Acid via Stabilization of Hairpin StructuresLuyan Zhang, T. Shibata, Asako Murata, Yusuke Takashima, Kazuhiko Nakatani · 2025 · Biochemistry
- Maladie de Huntington : une accélération du vieillissement neuronal par érosion épigénétiqueColine Mounier, Baptiste Brulé, Karine Mérienne · 2025 · médecine/sciences
- Stem Cell Therapy for Neurological Disorders: From Bench to BedsidePeter A. Barbuti · 2014 · Springer eBooks
- Diversidade genética em Plasmodium vivax: variação temporal e espacial em uma comunidade rural Amazônica.Camilla Luiza-Batista · 2014
- Excitotoxicidade em células granulares do cerebelo que expressam ataxina-3 mutante - relevância para a patogénese da doença de Machado-JosephSofia Isabel Oliveira Sousa · 2011 · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
- Additional file 3 of Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexesVicki Whan, Matthew Hobbs, McWilliam, Sean, Lynn, David J, Lutzow, Ylva Strandberg, Khatkar, Mehar, W. Barendse, Raadsma, Herman, Ross L. Tellam · 2010 · Figshare
- Additional file 4 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsLu, Jinfeng, Toro, Camilo, David R. Adams, Moreno, Cristiane Araujo Martins, Lee, Wan-Ping, Leung, Yuk Yee, Mathew B. Harms, Badri Narayan Vardarajan, Erin L. Heinzen · 2024 · Figshare
- Additional file 3 of A highly mutable GST is essential for bract colouration in Euphorbia pulcherrima Willd. Ex KlotschVinicius Vilperte, Robert Boehm, Thomas Debener · 2021 · Figshare
- Additional file 7 of Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexesVicki Whan, Matthew Hobbs, McWilliam, Sean, Lynn, David J, Lutzow, Ylva Strandberg, Khatkar, Mehar, W. Barendse, Raadsma, Herman, Ross L. Tellam · 2021 · Figshare
- Additional file 1 of A highly mutable GST is essential for bract colouration in Euphorbia pulcherrima Willd. Ex KlotschVinicius Vilperte, Robert Boehm, Thomas Debener · 2021 · Figshare
- Additional file 5 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsLu, Jinfeng, Toro, Camilo, David R. Adams, Moreno, Cristiane Araujo Martins, Lee, Wan-Ping, Leung, Yuk Yee, Mathew B. Harms, Badri Narayan Vardarajan, Erin L. Heinzen · 2024 · Figshare
- Additional file of Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexesVicki Whan, Matthew Hobbs, McWilliam, Sean, Lynn, David J, Lutzow, Ylva Strandberg, Khatkar, Mehar, W. Barendse, Raadsma, Herman, Ross L. Tellam · 2010 · Figshare
- Additional file 2 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsLu, Jinfeng, Toro, Camilo, David R. Adams, Moreno, Cristiane Araujo Martins, Lee, Wan-Ping, Leung, Yuk Yee, Mathew B. Harms, Badri Narayan Vardarajan, Erin L. Heinzen · 2024 · Figshare
- Additional file 6 of A highly mutable GST is essential for bract colouration in Euphorbia pulcherrima Willd. Ex KlotschVinicius Vilperte, Robert Boehm, Thomas Debener · 2021 · Figshare
- Additional file 12 of Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexesVicki Whan, Matthew Hobbs, McWilliam, Sean, Lynn, David J, Lutzow, Ylva Strandberg, Khatkar, Mehar, W. Barendse, Raadsma, Herman, Ross L. Tellam · 2010 · Figshare
- Additional file 5 of A highly mutable GST is essential for bract colouration in Euphorbia pulcherrima Willd. Ex KlotschVinicius Vilperte, Robert Boehm, Thomas Debener · 2021 · Figshare
- Additional file 7 of A highly mutable GST is essential for bract colouration in Euphorbia pulcherrima Willd. Ex KlotschVinicius Vilperte, Robert Boehm, Thomas Debener · 2021 · Figshare
- Additional file 11 of Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexesVicki Whan, Matthew Hobbs, McWilliam, Sean, Lynn, David J, Lutzow, Ylva Strandberg, Khatkar, Mehar, W. Barendse, Raadsma, Herman, Ross L. Tellam · 2021 · Figshare
- Additional file 7 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsLu, Jinfeng, Toro, Camilo, David R. Adams, Moreno, Cristiane Araujo Martins, Lee, Wan-Ping, Leung, Yuk Yee, Mathew B. Harms, Badri Narayan Vardarajan, Erin L. Heinzen · 2024 · Figshare
- Additional file 3 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsLu, Jinfeng, Toro, Camilo, David R. Adams, Moreno, Cristiane Araujo Martins, Lee, Wan-Ping, Leung, Yuk Yee, Mathew B. Harms, Badri Narayan Vardarajan, Erin L. Heinzen · 2024 · Figshare
- Additional file 9 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsLu, Jinfeng, Toro, Camilo, David R. Adams, Moreno, Cristiane Araujo Martins, Lee, Wan-Ping, Leung, Yuk Yee, Mathew B. Harms, Badri Narayan Vardarajan, Erin L. Heinzen · 2024 · Figshare
- Additional file 2 of Bovine proteins containing poly-glutamine repeats are often polymorphic and enriched for components of transcriptional regulatory complexesVicki Whan, Matthew Hobbs, McWilliam, Sean, Lynn, David J, Lutzow, Ylva Strandberg, Khatkar, Mehar, W. Barendse, Raadsma, Herman, Ross L. Tellam · 2021 · Figshare
- Additional file 2 of A highly mutable GST is essential for bract colouration in Euphorbia pulcherrima Willd. Ex KlotschVinicius Vilperte, Robert Boehm, Thomas Debener · 2021 · Figshare