Academic literature on the topic 'Progerin'

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Journal articles on the topic "Progerin"

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del Campo, Lara, Amanda Sánchez-López, Cristina González-Gómez, María Jesús Andrés-Manzano, Beatriz Dorado, and Vicente Andrés. "Vascular Smooth Muscle Cell-Specific Progerin Expression Provokes Contractile Impairment in a Mouse Model of Hutchinson-Gilford Progeria Syndrome that Is Ameliorated by Nitrite Treatment." Cells 9, no. 3 (2020): 656. http://dx.doi.org/10.3390/cells9030656.

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Cardiovascular disease (CVD) is the main cause of death worldwide, and aging is its leading risk factor. Aging is much accelerated in Hutchinson–Gilford progeria syndrome (HGPS), an ultra-rare genetic disorder provoked by the ubiquitous expression of a mutant protein called progerin. HGPS patients die in their teens, primarily due to cardiovascular complications. The primary causes of age-associated CVD are endothelial dysfunction and dysregulated vascular tone; however, their contribution to progerin-induced CVD remains poorly characterized. In the present study, we found that progeroid LmnaG
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Kudlow, Brian A., Monique N. Stanfel, Christopher R. Burtner, Elijah D. Johnston, and Brian K. Kennedy. "Suppression of Proliferative Defects Associated with Processing-defective Lamin A Mutants by hTERT or Inactivation of p53." Molecular Biology of the Cell 19, no. 12 (2008): 5238–48. http://dx.doi.org/10.1091/mbc.e08-05-0492.

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Hutchinson-Gilford progeria syndrome (HGPS) is a rare, debilitating disease with early mortality and rapid onset of aging-associated pathologies. It is linked to mutations in LMNA, which encodes A-type nuclear lamins. The most frequent HGPS-associated LMNA mutation results in a protein, termed progerin, with an internal 50 amino acid deletion and, unlike normal A-type lamins, stable farnesylation. The cellular consequences of progerin expression underlying the HGPS phenotype remain poorly understood. Here, we stably expressed lamin A mutants, including progerin, in otherwise identical primary
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Beard, Gemma S., Joanna M. Bridger, Ian R. Kill, and David R. P. Tree. "Towards a Drosophila model of Hutchinson–Gilford progeria syndrome." Biochemical Society Transactions 36, no. 6 (2008): 1389–92. http://dx.doi.org/10.1042/bst0361389.

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The laminopathy Hutchinson–Gilford progeria syndrome (HGPS) is caused by the mutant lamin A protein progerin and leads to premature aging of affected children. Despite numerous cell biological and biochemical insights into the basis for the cellular abnormalities seen in HGPS, the mechanism linking progerin to the organismal phenotype is not fully understood. To begin to address the mechanism behind HGPS using Drosophila melanogaster, we have ectopically expressed progerin and lamin A. We found that ectopic progerin and lamin A phenocopy several effects of laminopathies in developing and adult
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Harhouri, Karim, Pierre Cau, Frank Casey, et al. "MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients’ Cells." Cells 11, no. 4 (2022): 610. http://dx.doi.org/10.3390/cells11040610.

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Progeroid syndromes (PS), including Hutchinson-Gilford Progeria Syndrome (HGPS), are premature and accelerated aging diseases, characterized by clinical features mimicking physiological aging. Most classical HGPS patients carry a de novo point mutation within exon 11 of the LMNA gene encoding A-type lamins. This mutation activates a cryptic splice site, leading to the production of a truncated prelamin A, called prelamin A ∆50 or progerin, that accumulates in HGPS cell nuclei and is a hallmark of the disease. Some patients with PS carry other LMNA mutations and are named “HGPS-like” patients.
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Booth, Elizabeth A., Stephen T. Spagnol, Turi A. Alcoser, and Kris Noel Dahl. "Nuclear stiffening and chromatin softening with progerin expression leads to an attenuated nuclear response to force." Soft Matter 11, no. 32 (2015): 6412–18. http://dx.doi.org/10.1039/c5sm00521c.

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Progerin, a mutant form of the nuclear protein lamin A, is associated with the premature aging disorder Hutchinson-Gilford progeria syndrome. Progerin expression leads to a variety of changes in nuclear structure, mechanics and mechano-responsiveness.
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Musich, Phillip R., and Yue Zou. "DNA-damage accumulation and replicative arrest in Hutchinson–Gilford progeria syndrome." Biochemical Society Transactions 39, no. 6 (2011): 1764–69. http://dx.doi.org/10.1042/bst20110687.

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A common feature of progeria syndromes is a premature aging phenotype and an enhanced accumulation of DNA damage arising from a compromised repair system. HGPS (Hutchinson–Gilford progeria syndrome) is a severe form of progeria in which patients accumulate progerin, a mutant lamin A protein derived from a splicing variant of the lamin A/C gene (LMNA). Progerin causes chromatin perturbations which result in the formation of DSBs (double-strand breaks) and abnormal DDR (DNA-damage response). In the present article, we review recent findings which resolve some mechanistic details of how progerin
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Kim, Paul H., Jennings Luu, Patrick Heizer, et al. "Disrupting the LINC complex in smooth muscle cells reduces aortic disease in a mouse model of Hutchinson-Gilford progeria syndrome." Science Translational Medicine 10, no. 460 (2018): eaat7163. http://dx.doi.org/10.1126/scitranslmed.aat7163.

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Hutchinson-Gilford progeria syndrome is a disorder of premature aging in children caused by de novo mutations in LMNA that lead to the synthesis of an internally truncated form of prelamin A (commonly called progerin). The production of progerin causes multiple disease phenotypes, including an unusual vascular phenotype characterized by the loss of smooth muscle cells in the arterial media and fibrosis of the adventitia. We show that progerin expression, combined with mechanical stress, promotes smooth muscle cell death. Disrupting the linker of the nucleoskeleton and cytoskeleton (LINC) compl
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Datta, Sutirtha, Chelsi J. Snow, and Bryce M. Paschal. "A pathway linking oxidative stress and the Ran GTPase system in progeria." Molecular Biology of the Cell 25, no. 8 (2014): 1202–15. http://dx.doi.org/10.1091/mbc.e13-07-0430.

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Maintaining the Ran GTPase at a proper concentration in the nucleus is important for nucleocytoplasmic transport. Previously we found that nuclear levels of Ran are reduced in cells from patients with Hutchinson–Gilford progeria syndrome (HGPS), a disease caused by constitutive attachment of a mutant form of lamin A (termed progerin) to the nuclear membrane. Here we explore the relationship between progerin, the Ran GTPase, and oxidative stress. Stable attachment of progerin to the nuclear membrane disrupts the Ran gradient and results in cytoplasmic localization of Ubc9, a Ran-dependent impor
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Bidault, Guillaume, Marie Garcia, Jacqueline Capeau, Romain Morichon, Corinne Vigouroux, and Véronique Béréziat. "Progerin Expression Induces Inflammation, Oxidative Stress and Senescence in Human Coronary Endothelial Cells." Cells 9, no. 5 (2020): 1201. http://dx.doi.org/10.3390/cells9051201.

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Hutchinson–Gilford progeria syndrome (HGPS) is a rare premature aging disorder notably characterized by precocious and deadly atherosclerosis. Almost 90% of HGPS patients carry a LMNA p.G608G splice variant that leads to the expression of a permanently farnesylated abnormal form of prelamin-A, referred to as progerin. Endothelial dysfunction is a key determinant of atherosclerosis, notably during aging. Previous studies have shown that progerin accumulates in HGPS patients’ endothelial cells but also during vascular physiological aging. However, whether progerin expression in human endothelial
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Camafeita, Emilio, Inmaculada Jorge, José Rivera-Torres, Vicente Andrés, and Jesús Vázquez. "Quantification of Farnesylated Progerin in Hutchinson-Gilford Progeria Patient Cells by Mass Spectrometry." International Journal of Molecular Sciences 23, no. 19 (2022): 11733. http://dx.doi.org/10.3390/ijms231911733.

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Hutchinson-Gilford progeria syndrome (HGPS) is a rare fatal disorder characterized by premature aging and death at a median age of 14.5 years. The most common cause of HGPS (affecting circa 90% of patients) is a de novo heterozygous synonymous single-base substitution (c.1824C>T; p.G608G) in the LMNA gene that results in the accumulation of progerin, an aberrant form of lamin A that, unlike mature lamin A, remains permanently farnesylated. The ratio of progerin to mature lamin A correlates with disease severity in HGPS patients, and can be used to assess the effectiveness of therapies aimed
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Dissertations / Theses on the topic "Progerin"

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Sabri, Mohammad. "Proximity-Labeling of Near Neighbors of Lamin A and Lamin A-Δ50 (PROGERIN)". Digital Commons @ East Tennessee State University, 2013. https://dc.etsu.edu/honors/100.

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In an attempt to isolate and identify proteins that differentially interact with or locate near lamin A and progerin, we used a previously described method named BioID (proximity-dependent biotin identification). This method is based on fusion of a promiscuous E. coli biotin-protein ligase (BL) to a targeting protein (in this study, lamin A-GFP and progerin-GFP). The biotin ligase biotinylates amino residues in proteins that are near-neighbors of the fusion protein. To create the fusion proteins, BL was sub-cloned from a pcDNA3.1 MCS-BirA(R118G)-HA plasmid donated by Kyle Roux from University
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Eisch, Veronika [Verfasser], Karima [Akademischer Betreuer] Djabali, Bertold [Gutachter] Hock, and Karima [Gutachter] Djabali. "Characterizing the spatiotemporal distribution and interaction of the lamin A isoforms progerin and prelamin A during mitosis in the Progeroid Syndromes Hutchinson-Gilford progeria syndrome and Mandibuloacral Dysplasia Type B / Veronika Eisch ; Gutachter: Bertold Hock, Karima Djabali ; Betreuer: Karima Djabali." München : Universitätsbibliothek der TU München, 2020. http://d-nb.info/1227580355/34.

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Schwerer, Hélène. "Étude des altérations du programme de réplication lors du vieillissement cellulaire : peuvent-elles être reprogrammées ?" Thesis, Montpellier 1, 2014. http://www.theses.fr/2014MON13524.

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La réplication de l'ADN, qui doit assurer à chaque cycle cellulaire une copie fidèle du génome pour que les cellules filles héritent du même génome, est un processus hautement régulé, faisant intervenir son organisation en chromatine mais aussi sa dynamique au sein de l'architecture nucléaire. Le vieillissement cellulaire, qu'il soit physiologique, pathologique ou induit in vitro par des conditions de culture sub-optimales, est accompagné de modifications de l'organisation du génome en chromatine, susceptibles de modifier la régulation spatiotemporelle du programme de réplication. Dans quelle
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Vaissié, Alix. "Alternatives to “native human islets” for research in vitro and in vivo : pseudo-islets and pancreatic endocrine cells from pluripotent stem cells – the role of progerin in differentiation and maturation." Thesis, Lille 2, 2019. http://www.theses.fr/2019LIL2S035.

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Introduction : L'utilisation des îlots humains de Langerhans est la référence pour la recherche, tant physiologique que pour le développement de nouvelles molécules thérapeutiques pour le traitement du diabète de type 2. La demande d'îlots de Langerhans humains pour des projets de recherche est en constante augmentation, cependant, la disponibilité est limitée et les différentes préparations d'îlots de Langerhans révèlent une grande variabilité entre elles.Objectifs : L'objectif principal de cette thèse était de proposer une alternative aux îlots de Langerhans humains natifs qui permettrait d’
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Cantecor, Benedicte. "Vieillissement cutané : efficacité de la combinaison statine-aminobiphosphonate." Thesis, Aix-Marseille, 2013. http://www.theses.fr/2013AIXM5504.

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Bathula, Kranthidhar. "Nuclear Rupture in Progeria Expressing Cells." VCU Scholars Compass, 2018. https://scholarscompass.vcu.edu/etd/5479.

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Cells regularly take on various types of force in the body. They have structures that are able to mediate, transfer and respond to the forces. A mutation in force regulating proteins such as lamin in the nucleus or the KASH domain which connects the nucleus to the cytoskeleton of the cell can cause catastrophic events to occur. The aims of this study were to better understand the response of the nucleus when structural proteins are mutated or are not present while under force. Progeria, a rare disease where an additional farnesyl group is attached to lamin was used in this study. Different typ
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Navarro, Claire. "Etudes génétiques et fonctionnelles de syndromes progéroïdes." Aix-Marseille 2, 2007. http://www.theses.fr/2007AIX20666.

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Les syndromes progéroïdes (SP) représentent un ensemble de pathologies caractérisées par des signes de vieillissement prématuré. Ce travail de thèse a consisté à tenter d’identifier de nouvelles "laminopathies", ensemble de maladies génétiques dues à des défauts des lamines, associées à des formes de vieillissement prématuré. Du point de vue physiopathologique, les syndromes progéroïdes (SP) peuvent être classés en deux catégories majeures. La première concerne les SP causés par des mutations dans des gènes codants pour des protéines impliquées dans les mécanismes de réparation de l’ADN. La se
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Frankel, Diane. "Lamines et microARNs : implication dans un modèle de laminopathie héréditaire, la Progeria de Hutchinson-Gilford et de laminopathie acquise, l'adénocarcinome bronchique." Thesis, Aix-Marseille, 2018. http://www.theses.fr/2018AIXM0761.

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Les laminopathies regroupent des pathologies liées aux lamines. La Progeria est due à une mutation du gène LMNA entrainant la synthèse d’une protéine anormale : la progérine. Elle s’accumule dans le noyau et entraîne des dommages cellulaires aboutissant à une sénescence prématurée, à l’origine d’un vieillissement prématuré et accéléré des patients dont le décès survient vers l’âge de 14 ans. Les microARNs (miRs) sont des petits ARNs non-codants régulant l’expression des gènes. Dans le projet principal de ma Thèse, nous avons identifié par un miRNome en RT-qPCR, 14 miRs différentiellement expri
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Decker, Michelle Leanna. "Telomere length and dynamics in Hutchinson-Gilford progeria syndrome." Thesis, University of British Columbia, 2011. http://hdl.handle.net/2429/34180.

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Hutchinson-Gilford Progeria Syndrome (HGPS) is a premature aging disorder caused by mutations in the gene LMNA, which encodes the nuclear matrix protein, Lamin A. Lamin A is found predominantly at the nuclear periphery but also throughout the nucleus in a ‘nucleoplasmic veil’. The majority of HGPS patients have a single nucleotide mutation (1824 C→T) which results in the activation of a cryptic donor splice site causing a 150 nucleotide deletion in the mRNA and consequently a 50 amino acid in-frame deletion in the protein. The mutation results in aberrant processing and nuclear localization
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Bidault, Guillaume. "Etude cellulaire des syndromes lipodystrophiques et progéroïdes liés aux mutations du gène lmna : résistance à l’insuline et dysfonction endothéliale." Paris 6, 2013. http://www.theses.fr/2013PA066404.

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La lipodystrophie partielle familiale de dunnigan (fpld2) ou la progéria de hutchinson-gilford (hgps), syndrome de vieillissement accéléré, sont dues à des mutations du gène lmna, codant les lamines de type a. Elles partagent certaines atteintes : lipodystrophie, résistance à l’insuline et athérosclérose précoce. Elles mettent en lumière les liens étroits entre atteintes métaboliques, vieillissement et maladies cardiovasculaires. Au cours de ma thèse, je me suis intéressé aux mécanismes cellulaires impliqués dans la résistance à l’insuline et la dysfonction endothéliale, qui participeraient au
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Books on the topic "Progerin"

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Marivent, Raguer de. Progenie. Ediciones Internacionales Universitarias, 1997.

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Toro, Guillermo del. La progenie. 2nd ed. Mondadori, 2011.

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Sánchez, Raúl Chávez. La progenie de Morelos. 2nd ed. Universidad Michoacana de San Nicolás de Hidalgo, 2000.

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Activities, United Nations Fund for Population. Progestin only injectable (POI) contraceptives: Facts file. UNFPA], 2004.

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Kimberly Akimbo. Dramatists Play Service, 2003.

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author, Stokes Alison, ed. Young at heart: The likes and life of a teenager with progeria. Accent Press, 2014.

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Mills, Kyle. The immortalists. Thomas & Mercer, 2011.

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Grimaldo, Alfredo Arias. Progenie de Antonio Arias Castillo Camargo con Carmen Madrid. [A. Arias Grimaldo], 2008.

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Grimaldo, Alfredo Arias. Progenie de Antonio Arias Castillo Camargo con Carmen Madrid. [A. Arias Grimaldo], 2008.

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Pretty like us. Peachtree, 2008.

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Book chapters on the topic "Progerin"

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Pascual-Castroviejo, Ignacio, and Martino Ruggieri. "Progeria and Progeroid Syndromes (Premature Ageing Disorders)." In Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer Vienna, 2008. http://dx.doi.org/10.1007/978-3-211-69500-5_54.

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Gittenberger-de Groot, Adriana C., Regina Bokenkamp, Vered Raz, et al. "Progerin Expression during Normal Closure of the Human Ductus Arteriosus: A Case of Premature Ageing?" In Etiology and Morphogenesis of Congenital Heart Disease. Springer Japan, 2016. http://dx.doi.org/10.1007/978-4-431-54628-3_34.

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Chen, Harold. "Progeria." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_197-2.

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Chen, Harold. "Progeria." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_197.

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Arancio, Walter. "Progeria: Humans." In Encyclopedia of Gerontology and Population Aging. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-319-69892-2_724-1.

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Phelps, Brady I. "Progeria Syndrome." In Encyclopedia of Child Behavior and Development. Springer US, 2011. http://dx.doi.org/10.1007/978-0-387-79061-9_2264.

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Arancio, Walter. "Progeria: Humans." In Encyclopedia of Gerontology and Population Aging. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-22009-9_724.

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Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, et al. "Progeria Adultorum." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7209.

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Elizalde, Patricia V. "Progestin." In Encyclopedia of Cancer. Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-27841-9_4756-2.

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Elizalde, Patricia V. "Progestin." In Encyclopedia of Cancer. Springer Berlin Heidelberg, 2016. http://dx.doi.org/10.1007/978-3-662-46875-3_4756.

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Conference papers on the topic "Progerin"

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Morgenroth, Philipp, Christoph Söhnchen, Alf Spitschak, Brigitte M. Puetzer, and Stella Logotheti. "Abstract 3092: Effect of cancer stem cell-specific progerin expression on metastatic potential." In Proceedings: AACR Annual Meeting 2021; April 10-15, 2021 and May 17-21, 2021; Philadelphia, PA. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1538-7445.am2021-3092.

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KURCHASHOVA, S. Y., L. I. KUTUEVA, T. V. GASANOVA, et al. "DETECTION OF PROGERIN MRNA IN PERIPHERAL BLOOD, BUCCAL EPITHELIUM, AND HUMAN DERMAL FIBROBLASTS." In HOMO SAPIENS LIBERATUS. TORUS PRESS, 2020. http://dx.doi.org/10.30826/homosapiens-2020-47.

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Lee, Su-Jin, Youn-Sang Jung, Sun-Hye Lee, Ji-Yun Chung, and Bum-Joon Park. "Abstract A50: Loss of pVHL inactivates p53 by permission of interaction between p14/ARF and progerin." In Abstracts: Second AACR International Conference on Frontiers in Basic Cancer Research--Sep 14-18, 2011; San Francisco, CA. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.fbcr11-a50.

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Chandra, Dhairya, Sarthak Singh Rawat, and Rahul Nijhawan. "A Machine Learning Based Approach for Progeria Syndrome Detection." In 2019 4th International Conference on Information Systems and Computer Networks (ISCON). IEEE, 2019. http://dx.doi.org/10.1109/iscon47742.2019.9036229.

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Lizhen Zheng, Xiaohua Wang, Tieshuan Zhang, and Chonghui Zhang. "Research progerss in utilizations of coal liquefaction residues." In Environment (ICMREE). IEEE, 2011. http://dx.doi.org/10.1109/icmree.2011.5930646.

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Singh, Utkarsh Sandeep, Adesh Kumar Gupta, Tanupriya Choudhury, and Thipendra Pal Singh. "Developing a new framework using Facial Recognition System for the detection of Progeria." In 2019 International Conference on Computational Intelligence and Knowledge Economy (ICCIKE). IEEE, 2019. http://dx.doi.org/10.1109/iccike47802.2019.9004365.

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Hasenkox, J., Y. Bai, N. Stamm та ін. "PGRMC1 is associated with ERα activation upon progestin treatment". У Wissenschaftliche Abstracts zur 40. Jahrestagung der Deutschen Gesellschaft für Senologie e.V. (DGS) Interdisziplinär. Kommunikativ. Digital. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1730168.

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Izzo, Franco, María C. Díaz Flaqué, Rocío Vicario, et al. "Abstract 2281: GATA3 and progestin interaction in mammary cancer." In Proceedings: AACR 102nd Annual Meeting 2011‐‐ Apr 2‐6, 2011; Orlando, FL. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.am2011-2281.

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"Síndrome Progeria y su implicancia anestesiológica: Reporte de un caso y revisión de la literatura." In Resúmenes de trabajos libres congreso CLASA 2019. Sociedad de Anestesiología de Chile, 2019. http://dx.doi.org/10.25237/congresoclasa2019.68.

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Benson, Erica K., and Stuart A. Aaronson. "Abstract A60: Role of telomere dysfunction in the premature cellular senescence of Hutchinson‐Gilford progeria syndrome." In Abstracts: First AACR International Conference on Frontiers in Basic Cancer Research--Oct 8–11, 2009; Boston MA. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.fbcr09-a60.

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Reports on the topic "Progerin"

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Villa Bellosta, Ricardo. Progeria, tener un niño anciano. Sociedad Española de Bioquímica y Biología Molecular, 2019. http://dx.doi.org/10.18567/sebbmdiv_rpc.2019.06.1.

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Gupta, Shweta. The Disorder That Makes One Age 7 Times Faster. Science Repository OÜ, 2020. http://dx.doi.org/10.31487/sr.blog.13.

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In addition to the implications for the diagnosis and conceivable treatment of progeria, the revelation of this model’s underlying genetics of premature aging may assist in revealing new insight into people s normal aging process
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Smith, Kyle T. Analysis of Progestin Effects on Hepatocyte Growth Factor Signaling Pathways in Relation to Proliferation and Alveolar Morphogenesis of Normal Mammary Epithelial Cells in Vitro. Defense Technical Information Center, 2003. http://dx.doi.org/10.21236/ada416749.

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Katzenellenbogen, John, A. Novel Chemical Strategies for Labeling Small Molecule Ligands for Androgen, Progestin, and Peroxisome Proliferator-Activated Receptors for Imaging Prostate and Breast Cancer and the Heart. Office of Scientific and Technical Information (OSTI), 2007. http://dx.doi.org/10.2172/902426.

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Comparing alternative products in the provision of emergency contraception. Population Council, 1999. http://dx.doi.org/10.31899/rh1999.1010.

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Abstract:
This report is the third in a series of summaries produced in connection with the operations research project “Enhancing Access to Family Planning Services through the Introduction of Emergency Contraception.” Launched in September 1997, the project explores the many issues surrounding the introduction and delivery of emergency contraception services in a developing country context. The study compares the introduction of two different emergency contraception pills—the combined oral contraceptive PC-4, introduced in Zambia in 1997, and the progestin-only contraceptive Postinor-2, introduced by
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