Relevant bibliographies by topics / Microsatellite disorders

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters
  4. Conference papers

Academic literature on the topic 'Microsatellite disorders'

Author: Grafiati
Published: 25 May 2024

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Journal articles on the topic "Microsatellite disorders"

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Richard, Guy-Franck. "The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions." Cells 10, no. 5 (2021): 1019. http://dx.doi.org/10.3390/cells10051019.

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Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders. The molecular mechanisms responsible for these expansions in humans are not totally understood, but experiments in model systems such as yeast, transgenic mice, and human cells have brought evidence that the mismatch repair machinery is involved in generating these expansions. The present review summarizes, in the first part, the role of mismatch repair in detecting and fixing the DNA strand slippage occurring during microsatellite r
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Avvaru, Akshay Kumar, Deepak Sharma, Archana Verma, Rakesh K. Mishra, and Divya Tej Sowpati. "MSDB: a comprehensive, annotated database of microsatellites." Nucleic Acids Research 48, no. D1 (2019): D155—D159. http://dx.doi.org/10.1093/nar/gkz886.

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Abstract Microsatellites are short tandem repeats of 1–6 nucleotide motifs, studied for their utility as genome markers and in forensics. Recent evidence points to the role of microsatellites in important regulatory functions, and their length polymorphisms at coding regions are linked to various neurodegenerative disorders in humans. Microsatellites show a taxon-specific enrichment in eukaryotic genomes, and their evolution remains poorly understood. Though other databases of microsatellites exist, they fall short on several fronts. MSDB (MicroSatellite DataBase) is a collection of >4
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Ranum, Laura P. W., and John W. Day. "Dominantly inherited, non-coding microsatellite expansion disorders." Current Opinion in Genetics & Development 12, no. 3 (2002): 266–71. http://dx.doi.org/10.1016/s0959-437x(02)00297-6.

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Volpe, G., B. Gamberi, C. Pastore, et al. "Analysis of microsatellite instability in chronic lymphoproliferative disorders." Annals of Hematology 72, no. 2 (1996): 67–71. http://dx.doi.org/10.1007/bf00641310.

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Volpe, G., B. Gamberi, C. Pastore, et al. "Analysis of microsatellite instability in chronic lymphoproliferative disorders." Annals of Hematology 72, no. 2 (1996): 67–71. http://dx.doi.org/10.1007/s002770050139.

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Poggi, Lucie, Lisa Emmenegger, Stéphane Descorps-Declère, Bruno Dumas, and Guy-Franck Richard. "Differential efficacies of Cas nucleases on microsatellites involved in human disorders and associated off-target mutations." Nucleic Acids Research 49, no. 14 (2021): 8120–34. http://dx.doi.org/10.1093/nar/gkab569.

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Abstract Microsatellite expansions are the cause of >20 neurological or developmental human disorders. Shortening expanded repeats using specific DNA endonucleases may be envisioned as a gene editing approach. Here, we measured the efficacy of several CRISPR–Cas nucleases to induce recombination within disease-related microsatellites, in Saccharomyces cerevisiae. Broad variations in nuclease performances were detected on all repeat tracts. Wild-type Streptococcus pyogenes Cas9 (SpCas9) was more efficient than Staphylococcus aureus Cas9 on all repeats tested, except (CAG)33. Cas12a (Cpf1
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Shoab Mansuri, Mohmmad, Mala Singh та Munira Jariwala. "Investigating the Association of Poly (ADP-Ribose) Polymerase-1 (PARP-1) and Nuclear Factor-κB (NF-κB) Polymorphisms with Vitiligo Susceptibility". International Journal of Research and Review 9, № 10 (2022): 277–85. http://dx.doi.org/10.52403/ijrr.20221032.

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Background: Poly (ADP-ribose) polymerase-1 (PARP-1) is a co-activator of nuclear factor-κB (NF-κB) and is also strongly activated by DNA damage. PARP has also been found to be associated with several autoimmune disorders. Vitiligo is a polygenic, multifactorial, acquired skin disorder caused due to loss of epidermal melanocytes. Among others, genetic and immunological factors are associated with vitiligo pathogenesis. Aim: To investigate the association of PARP1 exon 17 (rs1136410; V762A) and promoter CA microsatellite repeat (rs1136410) polymorphisms, and NF-κB promoter -94 indelATTG (rs28362
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Echeverria, Gloria V., and Thomas A. Cooper. "RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity." Brain Research 1462 (June 2012): 100–111. http://dx.doi.org/10.1016/j.brainres.2012.02.030.

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Hayward, Bruce E., Peter J. Steinbach, and Karen Usdin. "A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders." Nucleic Acids Research 48, no. 14 (2020): 7856–63. http://dx.doi.org/10.1093/nar/gkaa573.

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Abstract The Fragile X-related disorders (FXDs) are Repeat Expansion Diseases, genetic disorders that result from the expansion of a disease-specific microsatellite. In those Repeat Expansion Disease models where it has been examined, expansion is dependent on functional mismatch repair (MMR) factors, including MutLγ, a heterodimer of MLH1/MLH3, one of the three MutL complexes found in mammals and a minor player in MMR. In contrast, MutLα, a much more abundant MutL complex that is the major contributor to MMR, is either not required for expansion or plays a limited role in expansion in many mo
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Grespi, Valentina, Cecilia Caprera, Claudia Ricciolini, et al. "Human neural stem cells drug product: Microsatellite instability analysis." PLOS ONE 17, no. 8 (2022): e0273679. http://dx.doi.org/10.1371/journal.pone.0273679.

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Introduction In central nervous system neurodegenerative disorders, stem cell-based therapies should be considered as a promising therapeutic approach. The safe use of human Neural Stem Cells (hNSCs) for the treatment of several neurological diseases is currently under evaluation of phase I/II clinical trials. Clinical application of hNSCs require the development of GMP standardized protocols capable of generating high quantities of reproducible and well characterized stem cells bearing stable functional and genetic properties. Aim The aim of this study was to evaluate possible instabilities o
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Dissertations / Theses on the topic "Microsatellite disorders"

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Poggi, Lucie. "Gene editing approaches of microsatellite disorders : shortening expanded repeats." Electronic Thesis or Diss., Sorbonne université, 2020. http://www.theses.fr/2020SORUS412.

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Les maladies à triplet sont dues à des expansions de trinucléotides dans l’ADN. Aucun traitement n’existe pour les soigner. Le but de cette thèse est de mettre au point de nouvelles approches de thérapie génique pour supprimer les expansions pathologiques dans le génome humain. Dans une première partie, un système expérimental dans la levure a été construit afin d’évaluer l’efficacité de différentes nucléases associées au système CRISPR sur des microsatellites. La seconde partie est concentrée sur une maladie à triplet en particulier ; la dystrophie myotonique de type 1 (DM
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Vaksman, Zalman. "Somatic microsatellite variability as a measure of DNA stability in cancer and DNA repair disorders." Diss., Virginia Tech, 2015. http://hdl.handle.net/10919/51174.

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Microsatellites (MSTs) are short tandem repeats of motifs, 1 — 6 nucleotide in length, and are considered mutational 'hot-spots' and show a greater degree of somatic variability and population polymorphisms than surrounding DNA sequences. MSTs provide for a unique computational alignment problem for many commonly used algorithms, and therefore required software tools to be developed to specifically address these issues. For this work we developed a novel approach to extract MSTs from next-gen sequencing data that can robustly detect signatures of MST mutation bias and somatic variation occurri
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Vaysse-Zinkhöfer, Wilhelm. "Mécanismes de réparations d’une cassure double-brin et résection au sein d’un microsatellite humain." Electronic Thesis or Diss., Sorbonne université, 2021. http://www.theses.fr/2021SORUS477.

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Les microsatellites sont des répétitions en tandem d’un motif compris entre une et neuf paires de bases. Ces répétitions retrouvées dans tous les organismes de façon ubiquitaire, sont particulièrement abondantes dans les organismes eucaryotes. Toutes ces répétitions sont capables de former des structures secondaires in vitro et possiblement in vivo. Certains microsatellites sont enclins à une expansion, conduisant à de nombreuses maladies neurodégénératives chez l’homme telle que la dystrophie myotonique de type 1 (DM1), maladie neurodégénérative la plus fréquemment transmise. L’apparition et
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Rohilla, Kushal. "Cell-Based Models and RNA Biology for a Genetic Form of Lou Gehrig's Disease." OpenSIUC, 2020. https://opensiuc.lib.siu.edu/dissertations/1784.

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Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome and have important roles in genome evolution and function. However, the expansion of microsatellites is associated with over two dozen neurological diseases. A common denominator among the majority of these disorders is the expression of expanded tandem repeat-containing RNA, referred to as xtrRNA, which can mediate molecular disease pathology in multiple ways. Frontotemporal Dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS) are two fatal neurodegenerative diseases with significant clinical, neurologic
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Book chapters on the topic "Microsatellite disorders"

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Goodwin, Marianne, and Maurice S. Swanson. "RNA-Binding Protein Misregulation in Microsatellite Expansion Disorders." In Systems Biology of RNA Binding Proteins. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-1221-6_10.

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Dias, Christel, and Cynthia Gates Goodyer. "Association of a Human Growth Hormone Receptor (HGHR) Gene Microsatellite Polymorphism with Idiopathic Short Stature (ISS)." In CLINICAL/TRANSLATIONAL - Growth Disorders. The Endocrine Society, 2011. http://dx.doi.org/10.1210/endo-meetings.2011.part2.p19.p1-726.

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Barcellos, Lisa F., Soren Germer, and William Klitz. "DNA pooling methods for association mapping of complex disease loci." In Molecular Epidemiology. Oxford University PressOxford, 2007. http://dx.doi.org/10.1093/oso/9780199638116.003.0005.

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Abstract The rapid development and application of highly informative microsatellite markers throughout the human genome has greatly facilitated the identification of disease loci in hundreds of rare Mendelian disorders. Utilization of large multigenerational pedigrees with multiple affected individuals is a proven strategy for isolating chromosomal regions containing disease genes using microsatellite markers and traditional lod score linkage analysis. Linkage studies are often followed by association studies to further define the candidate region and to identify the putative disease gene. Linkage disequilibrium, the basis of marker associations, is typically found within a distance of 500 kb, about 0.5 (cM), although, in general, this distance may vary considerably according to population history, across different regions of the genome, and with marker type (1–4). Disease genes mapped to date, however, have shown linkage disequilibrium with markers sufficiently close to the disease gene to guide discovery of the disease locus. Examples of these successes include cystic fibrosis, Huntington disease, Wilson disease, Batten disease, Friedreich ataxia, myotonic dystrophy, torsion dystonia, hereditary haemochromatosis, diastrophic dysplasia, adult onset polycystic kidney disease, familial breast cancer, and many others.
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Conference papers on the topic "Microsatellite disorders"

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Charbonneaux, Juliette, and Karine Berthelot Guiet. "Of Seals and Humans. Media and scientific discourses about a caregiving medical device." In 14th International Conference on Applied Human Factors and Ergonomics (AHFE 2023). AHFE International, 2023. http://dx.doi.org/10.54941/ahfe1003485.

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The approach we propose is developed within an integrated cancer research site or Siric CURAMUS (Cancer United Research Associating Medicine, University & Society) linked to the Groupe Hospitalier Pitié Salpêtrière - Sorbonne University. The eight Sirics accredited in France by the Institut du Cancer have the mission of optimizing and accelerating the production of new knowledge and promoting its dissemination and application in the treatment of cancer through integrated and translational multidisciplinary research programs. CURAMUS has three integrated research programs (neuro-oncology, r
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