Bibliografías temáticas / Triplet repeat diseases

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Literatura académica sobre el tema "Triplet repeat diseases"

Autor: Grafiati
Publicado: 19 de octubre de 2024
Última modificación: 31 de julio de 2025

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Artículos de revistas sobre el tema "Triplet repeat diseases"

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Pan, Feng, Pengning Xu, Christopher Roland, Celeste Sagui, and Keith Weninger. "Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases." Biomolecules 14, no. 10 (2024): 1278. http://dx.doi.org/10.3390/biom14101278.

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Dynamic mutations in some human genes containing trinucleotide repeats are associated with severe neurodegenerative and neuromuscular disorders—known as Trinucleotide (or Triplet) Repeat Expansion Diseases (TREDs)—which arise when the repeat number of triplets expands beyond a critical threshold. While the mechanisms causing the DNA triplet expansion are complex and remain largely unknown, it is now recognized that the expandable repeats lead to the formation of nucleotide configurations with atypical structural characteristics that play a crucial role in TREDs. These nonstandard nucleic acid
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Monckton, Darren G., and C. Thomas Caskey. "Unstable Triplet Repeat Diseases." Circulation 91, no. 2 (1995): 513–20. http://dx.doi.org/10.1161/01.cir.91.2.513.

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Jasinska, Anna J., Piotr Kozlowski, and Wlodzimierz J. Krzyzosiak. "Expression characteristics of triplet repeat-containing RNAs and triplet repeat-interacting proteins in human tissues." Acta Biochimica Polonica 55, no. 1 (2008): 1–8. http://dx.doi.org/10.18388/abp.2008_3090.

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Numerous human transcripts contain tandem repeats of trinucleotide motifs, the function of which remains unknown. In this study we used the available gene expression EST data to characterize the abundance of a large group of these transcripts in different tissues and determine the mRNAs which had the highest contribution to the observed levels of transcripts containing different types of the CNG repeats. A more extensive characteristics was performed for transcripts containing the CUG repeats, and those encoding the repeat-binding proteins. The scarcity of double-stranded CUG repeats as well a
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Bates, Gillian P., and Roman Gonitel. "Mouse Models of Triplet Repeat Diseases." Molecular Biotechnology 32, no. 2 (2006): 147–58. http://dx.doi.org/10.1385/mb:32:2:147.

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Gorbunova, 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 (2003): 4485–93. http://dx.doi.org/10.1128/mcb.23.13.4485-4493.2003.

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ABSTRACT Despite substantial progress in understanding the mechanism by which expanded CTG/CAG trinucleotide repeats cause neurodegenerative diseases, little is known about the basis for repeat instability itself. By taking advantage of a novel phenomenon, we have developed a selectable assay to detect contractions of CTG/CAG triplets. When inserted into an intron in the APRT gene or the HPRT minigene, long tracts of CTG/CAG repeats (more than about 33 repeat units) are efficiently incorporated into mRNA as a new exon, thereby rendering the encoded protein nonfunctional, whereas short repeat t
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Di Prospero, Nicholas A., and Kenneth H. Fischbeck. "Therapeutics development for triplet repeat expansion diseases." Nature Reviews Genetics 6, no. 10 (2005): 756–66. http://dx.doi.org/10.1038/nrg1690.

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Li, Rena, and Rif S. El-Mallakh. "Triplet Repeat Gene Sequences in Neuropsychiatric Diseases." Harvard Review of Psychiatry 5, no. 2 (1997): 66–74. http://dx.doi.org/10.3109/10673229709034729.

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Sinnreich, 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 (2004): 378–82. http://dx.doi.org/10.1017/s0317167100003486.

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Objective:To study the role of diabetes, gynecomastia and CAG triplet repeat size as disease modifying factors of neurologic expression in spinal bulbar muscular atrophy (SBMA, Kennedy's disease).Methods:Twenty unrelated SBMApatients with confirmatory genetic testing were reviewed. Patterns of neurologic involvement were assessed (e.g. bulbar, asymmetric, proximal, distal, motor and sensory). Slopes of disease progression were calculated from serial quantified neurologic examinations. Patterns of neurologic involvement and course were correlated to the presence of diabetes, gynecomastia and tr
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Olejniczak, Marta, Martyna O. Urbanek, and Wlodzimierz J. Krzyzosiak. "The Role of the Immune System in Triplet Repeat Expansion Diseases." Mediators of Inflammation 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/873860.

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Trinucleotide repeat expansion disorders (TREDs) are a group of dominantly inherited neurological diseases caused by the expansion of unstable repeats in specific regions of the associated genes. Expansion of CAG repeat tracts in translated regions of the respective genes results in polyglutamine- (polyQ-) rich proteins that form intracellular aggregates that affect numerous cellular activities. Recent evidence suggests the involvement of an RNA toxicity component in polyQ expansion disorders, thus increasing the complexity of the pathogenic processes. Neurodegeneration, accompanied by reactiv
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Servadio, Antonio, Angelo Poletti, Antonio Servadio, and Franco Taroni. "Triplet repeat diseases: from basic to clinical aspects." Brain Research Bulletin 56, no. 3-4 (2001): 159. http://dx.doi.org/10.1016/s0361-9230(01)00750-x.

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Tesis sobre el tema "Triplet repeat diseases"

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Pontual, Laure de. "Identification de nouveaux facteurs chimiques capables de moduler l'instabilité des répétitions CTG dans la dystrophie myotonique de type 1." Electronic Thesis or Diss., Sorbonne université, 2024. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2024SORUS198.pdf.

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La dystrophie myotonique de type 1 (DM1) est la dystrophie la plus fréquente chez l'adulte avec une prévalence estimée à 1 : 8000 individus. C'est une maladie multi-systémique caractérisée par des atteintes musculaires, cardiaques, cognitives et digestives responsables d'une réduction de l'espérance et de la qualité de vie des patients. Elle est causée par une expansion anormale de répétitions CTG en 3'UTR du gène DMPK. Dans la population générale, le nombre de répétitions est inférieur à 35 CTG tandis qu'il dépasse 50 CTG et peut atteindre jusqu'à plusieurs milliers de répétitions chez les pa
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Chen, Chiung-Mei. "Investigating the functional consequences of expanded triplet repeat sequence in a mouse model of Huntington's Disease (HD)." Thesis, University of Glasgow, 2002. http://theses.gla.ac.uk/2114/.

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A PCR strategy showed that a number of total mtDNA molecules was significantly decreased (~30%) in the striatum (no reduction in the cortex and cerebellum) of 24-month old HD mice, but not a 15 months of age, when compared to wild-type mice, suggesting mtDNA depletion is a progressive rather than a developmental phenomenon. In light of the ~30% reduction of total mtDNA in the striatum, expression levels of the mitochondrial DNA-encoded respiratory complex enzymes, cytochrome b(Cytb), cytochrome c oxidase I (COI) and cytochrome c oxidase II (COII) were investigated in different brain regions of
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Myers, Shere Lynne. "Cellular Effects of Replicating a Polypurine-Polypyrimidine Sequence and the Interactions of DUE-B with Replication Proteins." Wright State University / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=wright1292507800.

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Bassez, Guillaume. "Recherche translationnelle sur les dystrophies myotoniques : étude de biomarqueurs et mise en place d’un observatoire national pour les essais cliniques." Thesis, Paris Est, 2011. http://www.theses.fr/2011PEST0079.

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Stevanoni, Martina. "The fine modulation of mammalian DNA replication in response to endogenous and exogenous stress conditions." Doctoral thesis, Università degli studi di Padova, 2017. http://hdl.handle.net/11577/3424576.

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DNA replication is essential to allow faithful inheritance of the genome. In mammalian cells, many replication origins are grouped within 200-400 kb regions called replication clusters, which are in turn enclosed in large replication domains (Méchali 2010; Cayrou et al. 2011). This hierarchical organisation is required for the temporal and spatial control of DNA replication and it allows modulating origin activation locally within clusters and globally at the level of replication domains (Yekezare et al. 2013). During G1 several initiation sites are licensed, but only a subset is activated i
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Melo, Ana Rosa Vieira. "Development of triplet repeat primed PCR (TP-PCR) technique as a support of molecular test in Machado-Joseph disease." Master's thesis, 2016. http://hdl.handle.net/10400.3/3666.

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Dissertação de Mestrado, Ciências Biomédicas, 3 de Fevereiro de 2016, Universidade dos Açores.<br>[...]. Este estudo teve como objetivo o desenvolvimento e a validação de um protocolo de TPPCR para a DMJ. Sessenta e seis amostras de sangue previamente genotipadas por PCR foram utilizadas na otimização e validação da TP-PCR. A robustez da técnica foi testada em 14 amostras de esfregaço bucal de doentes heterozigóticos com um alelo expandido. Os resultados da TP-PCR foram concordantes com os obtidos pela PCR em 65 amostras de sangue. Os resultados obtidos para as amostras de esfregaço bucal fora
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Libros sobre el tema "Triplet repeat diseases"

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R, Hayden Michael, and Rubinsztein D. C, eds. Analysis of triplet repeat disorders. Bios Scientific Publishers, 1998.

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Timchenko, Lubov T., ed. Triple Repeat Diseases of the Nervous Systems. Springer US, 2002. http://dx.doi.org/10.1007/978-1-4615-0117-6.

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Timchenko, Lubov T. Triple repeat diseases of the nervous system. Kluwer Academic/Plenum Publishers, 2002.

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T, Timchenko Lubov, ed. Triple repeat diseases of the nervous system. Kluwer Academic/Plenum Publishers, 2002.

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Timchenko, Lubov T. Triple Repeat Diseases of the Nervous Systems. Springer US, 2002.

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T, Timchenko Lubov, ed. Triple repeat diseases of the nervous system. Kluwer Academic/Plenum Publishers, 2002.

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(Editor), D. C. Rubinsztein, and M. R. Hayden (Editor), eds. Analysis of Triplet Repeat Disorders (A Volume in the Human Molecular Genetics Series) (Human Molecular Genetics). Academic Press, 1998.

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Meyers, Robert A. Encyclopedia of Molecular Cell Biology and Molecular Medicine, Triplet Repeat Diseases to Zebrafish (Danio rerio) Genome and Genetics (Encyclopedia of Molecular Biology and Molecular Medicine 16Vset). 2nd ed. Wiley-VCH, 2005.

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Timchenko, Lubov T. Triple Repeat Diseases of the Nervous Systems. Springer, 2012.

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Timchenko, Lubov T. Triple Repeat Diseases of the Nervous Systems. Springer, 2003.

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Capítulos de libros sobre el tema "Triplet repeat diseases"

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Budworth, Helen, and Cynthia T. McMurray. "A Brief History of Triplet Repeat Diseases." In Methods in Molecular Biology. Humana Press, 2013. http://dx.doi.org/10.1007/978-1-62703-411-1_1.

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Platt, Virginia, Do Yup Lee, Christie A. Canaria, Ken Frankel, Susan Bernstein, and Cynthia T. McMurray. "Towards Understanding Region-Specificity of Triplet Repeat Diseases: Coupled Immunohistology and Mass Spectrometry Imaging." In Methods in Molecular Biology. Humana Press, 2013. http://dx.doi.org/10.1007/978-1-62703-411-1_14.

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Samuelsson, Tore. "Triplet Repeats and Neurodegenerative Disorders." In The Human Genome in Health and Disease. Garland Science, 2019. http://dx.doi.org/10.1201/9780429021732-7.

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Wells, Robert D., Albino Bacolla, and Richard P. Bowater. "Instabilities of Triplet Repeats: Factors and Mechanisms." In Trinucleotide Diseases and Instability. Springer Berlin Heidelberg, 1998. http://dx.doi.org/10.1007/978-3-540-69680-3_4.

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Parniewski, Pawel, and Pawel Staczek. "Molecular Mechanisms of TRS Instability." In Triple Repeat Diseases of the Nervous Systems. Springer US, 2002. http://dx.doi.org/10.1007/978-1-4615-0117-6_1.

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Timchenko, Lubov T., Steve J. Tapscott, Thomas A. Cooper, and Darren G. Monckton. "Myotonic Dystrophy: Discussion of Molecular Basis." In Triple Repeat Diseases of the Nervous Systems. Springer US, 2002. http://dx.doi.org/10.1007/978-1-4615-0117-6_2.

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Stevanin, Giovanni, Alexandra Dürr, and Alexis Brice. "Spinocerebellar Ataxias Caused by Polyglutamine Expansions." In Triple Repeat Diseases of the Nervous Systems. Springer US, 2002. http://dx.doi.org/10.1007/978-1-4615-0117-6_3.

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Matsuura, Tohru, and Tetsuo Ashizawa. "Spinocerebellar Ataxia Type 10: A Disease Caused by a Large ATTCT Repeat Expansion." In Triple Repeat Diseases of the Nervous Systems. Springer US, 2002. http://dx.doi.org/10.1007/978-1-4615-0117-6_4.

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Pandolfo, Massimo. "The Molecular Basis of Friedreich Ataxia." In Triple Repeat Diseases of the Nervous Systems. Springer US, 2002. http://dx.doi.org/10.1007/978-1-4615-0117-6_5.

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LIN, YUNFU, VINCENT DION, and JOHN H. WILSON. "Transcription and Triplet Repeat Instability." In Genetic Instabilities and Neurological Diseases. Elsevier, 2006. http://dx.doi.org/10.1016/b978-012369462-1/50045-4.

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Actas de conferencias sobre el tema "Triplet repeat diseases"

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Nunes, Kamilla Gomes, Maira Caleffi, Leo Francisco Doncatto, and Marcia Silveira Graudenz. "Non-breast diseases mimicking breast conditions: a case report." In XXVI Brazilian Mastology Congress. Mastology, 2024. https://doi.org/10.29289/259453942024v34s2023.

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Introduction: Neoadjuvant chemotherapy (NAC), traditionally used for locally advanced disease, is currently applied to patients with early breast cancer (BC) of aggressive subtypes (HER-2-positive and triple-negative). BC remains one of the leading causes of mortality among women worldwide, requiring innovative therapeutic approaches to improve treatment outcomes. NAC has emerged as a promising strategy, particularly for aggressive breast cancer types, offering the potential to reduce tumor size before surgery. This study focuses on evaluating pathological complete response (pCR) after NAC at
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Jacome, Anna Carolina Pereira, Ingrid Bernucci Neto, Patrícia Aguiar Bellini, Luciana Carvalho Horta, and Bruno Henrique Jacome Alvarenga. "OCCULT PRIMARY TRIPLE NEGATIVE BREAST CANCER IN AN ELDERLY PATIENT: CASE REPORT." In Scientifc papers of XXIII Brazilian Breast Congress - 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s1003.

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Introduction: Occult primary breast cancer is very rare, accounting for less than 1% of all cases of breast cancer, generally associated with a poor prognosis. It is defined as a clinically recognizable metastatic carcinoma derived from an undetectable primary breast tumor, with metastasis to the axillary and cervical lymph nodes. Clinical and radiological examinations represent the first steps in the diagnosis, followed by a histological and immunohistochemistry (IHC) analysis, as well as a multidisciplinary team evaluation and therapy - essential for diagnosis and treatment. The most common
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Souto, Andreza Karine de Barros Almeida, Cristiano Augusto Andrade de Resende, Rafael Brito Foureaux Ribeiro, Andrea Arredondo Farias, and Ana Carolina Silba Barbosa. "Non-immune hemolytic anemia in a patient with advanced breast cancer on capecitabine: A rare adverse event." In Brazilian Breast Cancer Symposium 2023. Mastology, 2023. http://dx.doi.org/10.29289/259453942023v33s1046.

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Background: Stage IV triple-negative breast cancer has a high mortality rate, and the treatment strategy will be based on the presence of biomarkers, disease burden, need for a response rate, and treatment tolerability. Among the various management modalities and effective treatments, capecitabine is a frequently used option due to its known benefits and relatively good tolerance. However, there are several commonly known adverse effects when using capecitabine, including non-immune hemolytic anemia, a very rare and unexpected side effect. Capecitabine is a form of fluoropyrimidine that is hyp
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Belluco, Rosana Zabulon Feijó, Carolina Gaze Gonçalves Fontenele Gomes, Camila Pires Marinho, et al. "Breast neoplasm with distinct histological subtypes: A case report." In Brazilian Breast Cancer Symposium 2023. Mastology, 2023. http://dx.doi.org/10.29289/259453942023v33s1048.

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Introduction: Breast cancer is a heterogeneous disease, divided into many subtypes, the most common being invasive ductal. Breast tumors can be derived from epithelial tissue or mesenchymal cells. Most malignant breast tumors are made up of a single type of tumor. Cases where there are two or more types of malignant tumors occurring at the same time are rare. We report a case with different types of malignancies, i.e., non-special invasive ductal carcinoma, metaplastic carcinoma, and squamous cell carcinoma occurred together. Case report: A woman, 56 years old, with no family history of gyneco
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Cottrell, S. E., R. T. Wensley, A. M. Burn, and I. W. Delamore. "A VARIANT OF VON WILLEBRAND'S DISEASE (vWD) WITH IIB-TYPE MULTIMER PATTERN IN THE ABSENCE OF ENHANCED PLATELET AGGLUTINATION." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644105.

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A 62 year old man with vWD has suffered from repeated episodes of melaena - his son and daughter have inherited the disorder with few symptoms so far. Laboratory findings in them include consistently prolonged bleeding times, normal factor VIII coagulant activity and decreased ristocetin cofactor activity. Levels of von Willebrand factor (vWf) antigen were lower measured by immunoradiometric assay than by Laurell immunoelectrophoresis. Analysis of vWf structure by SDS agarose gel electrophoresis showed loss of only the large multimers in plasma and the triplet structure of the smaller multimer
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Soares, Gilandira Ivanda Da Costa, and Josmara Ximenes Andrade Furtado. "CORRELATION OF CLINICAL-PATHOLOGICAL VARIABLES WITH THE PATHOLOGIC COMPLETE RESPONSE AFTER NEOADJUVANT CHEMOTHERAPY IN TRIPLE-NEGATIVE BREAST CANCER." In Scientifc papers of XXIII Brazilian Breast Congress - 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s1059.

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Introduction: The triple-negative breast cancer (TNBC) is one of the most aggressive types of breast cancer, corresponding to about 15% to 20% of invasive breast tumors. They are those tumors that in immunohistochemistry do not express homone receptors and epidermal growth factor type 2 (cerbB2). This tumor phenotype does not yield many treatment options, beyond standard chemotherapy, and within this context, the evidence of some markers of this type of tumor may contribute to the discovery of more effective types of treatment. Case report and Objectives: The aim of this study was to define pr
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Assunção, Silvaleide Ataides, Vinicius Lemos Nascimento, Bruno Henrique de Aguiar Brito, et al. "NTRK MUTATION IN ADENOID CYSTIC CARCINOMA: A RARE TYPE OF TRIPLE NEGATIVE." In Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2072.

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Introduction: Breast cancer is one of the neoplasms that most cause death in women. Among these, there are some subtypes of greater biological aggressiveness, such as triple negative and HER overexpressed, which are associated with greater recurrence and mortality. Adenoid cystic carcinoma (ACC), salivary gland type, represents less than 0.1% of primary breast carcinomas and has indolent biological behavior and favorable prognosis compared with nonspecial triplenegative types. Case Report: A 51-year-old woman diagnosed with locally advanced ACC in the right breast, with negative immunohistoche
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Lustosa, Alysson Bastos, João Paulo Holanda Soares, Iago Mateus Rocha Leite, Rilciane Maria dos Reis Ribeiro, and Olívio Feitosa Costa Neto. "SECRETORY CARCINOMA BREAST IN A YOUNG MAN." In XXIV Congresso Brasileiro de Mastologia. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s1075.

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Introduction: Secretory carcinoma of the breast is a rare disease, accounting for approximately 0.15% of breast cancer cases. This entity was first described in a child in 1966. However, one of the largest case series with SEER data, encompassing a total of 190 patients, showed that the median age at diagnosis was 56 years, and it can affect both sexes, being much more common in women. In this same series, 58% and 40% of patients were positive for estrogen and progesterone hormone receptors, respectively. Most cases (86.86%) were well to moderately differentiated tumors without lymph node invo
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