Literatura científica selecionada sobre o tema "Syndrome progeroïde"
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Artigos de revistas sobre o assunto "Syndrome progeroïde"
De Barros, Paula Vitória Macêdo, Enrico Souza De Godoy, Lucas Rafael Ferreira Soares e João Ricardo Mendes De Oliveira. "Searching for proper criteria to add new and rare conditions to the Progeroid Syndromes category". Brazilian Journal of Health Review 7, n.º 1 (5 de fevereiro de 2024): 4365–71. http://dx.doi.org/10.34119/bjhrv7n1-353.
Texto completo da fonteKungurtseva, A. L., e A. V. Vitebskaya. "Differential Diagnosis of Progeroid Neonatal Syndrome". Doctor.Ru 22, n.º 7 (2023): 37–42. http://dx.doi.org/10.31550/1727-2378-2023-22-7-37-42.
Texto completo da fonteGolounina, Olga O., Valentin V. Fadeev e Zhanna E. Belaya. "Hereditary syndromes with signs of premature aging". Osteoporosis and Bone Diseases 22, n.º 3 (1 de junho de 2020): 4–18. http://dx.doi.org/10.14341/osteo12331.
Texto completo da fonteRivera-Mulia, Juan Carlos, Romain Desprat, Claudia Trevilla-Garcia, Daniela Cornacchia, Hélène Schwerer, Takayo Sasaki, Jiao Sima et al. "DNA replication timing alterations identify common markers between distinct progeroid diseases". Proceedings of the National Academy of Sciences 114, n.º 51 (1 de dezembro de 2017): E10972—E10980. http://dx.doi.org/10.1073/pnas.1711613114.
Texto completo da fonteOsorio, Fernando G., Alejandro P. Ugalde, Guillermo Mariño, Xose S. Puente, José M. P. Freije e Carlos López-Otín. "Cell autonomous and systemic factors in progeria development". Biochemical Society Transactions 39, n.º 6 (21 de novembro de 2011): 1710–14. http://dx.doi.org/10.1042/bst20110677.
Texto completo da fonteDe Menezes, Deborah Antunes, Amanda Ramos Caixeta, Isabella de Brito Alem Silva, Ana Luísa De Souza, Carolina Pessoa Rodrigues Ribeiro, Larissa Amorim Silva, Letícia Araújo Duarte et al. "Síndrome Progeroide de Hutchinson-Gilford: Uma revisão integrativa / Hutchinson-Gilford Progeroid Syndrome: An Integrative Review". Brazilian Journal of Health Review 4, n.º 5 (13 de outubro de 2021): 21783–93. http://dx.doi.org/10.34119/bjhrv4n5-268.
Texto completo da fonteGiguet-Valard, Anna-Gaëlle, Astrid Monfort, Hugues Lucron, Helena Mosbah, Franck Boccara, Camille Vatier, Corinne Vigouroux et al. "A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes". Cardiogenetics 13, n.º 4 (26 de setembro de 2023): 135–44. http://dx.doi.org/10.3390/cardiogenetics13040013.
Texto completo da fonteTrani, Jean Philippe, Raphaël Chevalier, Leslie Caron, Claire El Yazidi, Natacha Broucqsault, Léa Toury, Morgane Thomas et al. "Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging". Life Science Alliance 5, n.º 12 (14 de setembro de 2022): e202201501. http://dx.doi.org/10.26508/lsa.202201501.
Texto completo da fonteMartin, George M. "Genetic modulation of the senescent phenotype in Homo sapiens". Genome 31, n.º 1 (1 de janeiro de 1989): 390–97. http://dx.doi.org/10.1139/g89-059.
Texto completo da fonteGraul-Neumann, L. M., K. Hoffmann, P. Robinson e D. Horn. "Progeroide Variante eines Marfan-Syndroms". medizinische genetik 24, n.º 4 (dezembro de 2012): 279–83. http://dx.doi.org/10.1007/s11825-012-0361-9.
Texto completo da fonteTeses / dissertações sobre o assunto "Syndrome progeroïde"
Filho, Ricardo Di Lazzaro. "Estudo genético-clínico de pacientes com síndromes progeróides". Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/41/41136/tde-22012018-142854/.
Texto completo da fonteSome monogenic disorders exhibit progeroid phenotypes, in other words, they develop premature characteristics similar to those observed in normal human aging. The physiopathological correlation between these diseases and the aging process has being studied, and the understanding of the molecular mechanisms in one field contributes to the understanding of the other. The Hutchinson-Gilford and Rothmund-Thomson syndromes are two clinically well-characterized rare progerioid conditions that are caused by changes in the LMNA (in one allele) and RECQL4 (in both alleles) genes, respectively. However, in about 40% to 60% of individuals with Rothmund-Thomson syndrome, no mutations are found in RECQL4, constituting a subgroup called type I; thus, cases with mutations in the gene constitute the type II group of the syndrome. Individuals with type II have an increased risk for the development of cancer, particularly osteosarcoma. In this study, nine patients with progerioid signs were clinically evaluated and had the DNA sequenced. One patient was clinically diagnosed with Hutchinson-Gilford syndrome, which was confirmed by the most frequent pathogenic mutation found in the LMNA gene (p.Gly608Gly). Eight young patients with median age of 2 years and 2 months were clinically diagnosed as affected by Rothmund-Thomson syndrome, whose most common clinical features included: short stature; sparse hair, eyebrows and eyelashes; erythematous skin lesions and poikiloderma; and bone abnormalities; all typical of the syndrome. Cataract was present in 50% of individuals. None of the patients has developed any type of tumor at this time. Sequencing of the RECQL4 gene showed the presence of three different pathogenic variants in three probands (37.5%), two in homozygous and one in compound heterozygosity, all previously described in the literature. In search of alterations in another gene that could explain the phenotype presented by the patients without mutation, three of the probands, including the parents of one of them, had the exoma sequenced. However, there were no additional variants at this stage that fully explained the phenotypes presented by these individuals. Comparing the clinical findings of patients with Rothmund-Thomson syndrome type I and type II, a statistically significant difference was observed in the incidence of subcapsular cataract in patients without mutation (p <0.05), similar to that described in the literature. In light of the clinical and molecular findings, genetic counseling was performed for all individuals, emphasizing the evolution, care and follow-up needed for the two diseases in question and providing information to the parents of the probands on the risk of recurrence for future offspring
Smallwood, Dawn Teresca. "Investigating lamin A mutations in progeroid syndromes and partial lipodystrophy". Thesis, University of Leicester, 2012. http://hdl.handle.net/2381/11070.
Texto completo da fonteAnnab, Karima. "Etude de l’expression génique de différents syndromes progéroïdes en utilisant le modèle des cellules souches à pluripotence induite". Thesis, Aix-Marseille, 2019. http://www.theses.fr/2019AIXM0101.
Texto completo da fonteProgeroid syndromes are a group of pathologies characterized by accelerated and early aging. One of the most studied of these diseases is HGPS, with an estimated incidence of 1 in 8 millions birth making it an extremely rare disease. We focused our attention on three different progeroid syndromes including classic HGPS, a HGPS-like and an atypical progeroid syndrome. These pathologies share many symptoms, including osteolysis, lipodystrophy, and cardiovascular alterations. These 3 syndromes are caused by 3 different mutations in the LMNA gene that encodes A- and C-type lamins, inducing production of a truncated Lamin A in HGPS and HGPS-like and production of a mutated Lamin with a p.T528M substitution in APS. We produced hiPSCs to create a model of these different diseases and investigate in vitro the physiopathology of these syndromes by comparing them to control cells. Cells derived from mesenchymal stem cells being the most impaired type of tissue, we established in vitro models in order to study the differentiation of hiPSCs into MSCs. In addition given the massive cardiovascular defects in these patients, we also investigated differentiation toward the VSMCs. Cell phenotypes were carefully characterized and we compared the transcripttomic profile of the different cell types. We identified dysregulation in genes involved in oxidative stress response and in DNA repair in progeroid cells. In addition, pathways essential for cell survival and proliferation are also modified when comparing progeroid and controls cells. Altogether, these results might explain some of the symptoms observed in progeroid patients but also reveal pathways involved in ageing
Eisch, Veronika [Verfasser], Karima [Akademischer Betreuer] Djabali, Bertold [Gutachter] Hock e 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.
Texto completo da fonteTurotszy, Alicja. "The role of NARF and other novel progeria-associated genes/proteins in ageing processes". Doctoral thesis, 2020. http://hdl.handle.net/21.11130/00-1735-0000-0005-155F-A.
Texto completo da fonteCapítulos de livros sobre o assunto "Syndrome progeroïde"
Huang, Shurong, Brian K. Kennedy e Junko Oshima. "LMNA Mutations in Progeroid Syndromes". In Nuclear Organization in Development and Disease, 197–207. Chichester, UK: John Wiley & Sons, Ltd, 2008. http://dx.doi.org/10.1002/0470093765.ch13.
Texto completo da fonteAgrelo, Ruben. "Epigenetic Silencing of Progeroid Syndromes". In Epigenetics of Aging, 345–69. New York, NY: Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-0639-7_19.
Texto completo da fontePascual-Castroviejo, Ignacio, e Martino Ruggieri. "Progeria and Progeroid Syndromes (Premature Ageing Disorders)". In Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes, 847–78. Vienna: Springer Vienna, 2008. http://dx.doi.org/10.1007/978-3-211-69500-5_54.
Texto completo da fonteMartin, George M. "Keynote Address: Genetics and Aging; The Werner Syndrome as a Segmental Progeroid Syndrome". In Advances in Experimental Medicine and Biology, 161–70. Boston, MA: Springer US, 1985. http://dx.doi.org/10.1007/978-1-4684-7853-2_5.
Texto completo da fonteDavis, Terence. "Progeroid Syndromes: Role of Accelerated Fibroblast Senescence and p38 Activation". In Tumor Dormancy, Quiescence, and Senescence, Vol. 3, 25–39. Dordrecht: Springer Netherlands, 2014. http://dx.doi.org/10.1007/978-94-017-9325-4_3.
Texto completo da fonteFechtner, Lisa, e Thorsten Pfirrmann. "Ubiquitin Ligases Involved in Progeroid Syndromes and Age-Associated Pathologies". In Proteostasis and Proteolysis, 81–94. Boca Raton: CRC Press, 2021. http://dx.doi.org/10.1201/9781003048138-07.
Texto completo da fonte"Progeroid Syndromes". In Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 1562. Dordrecht: Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_13497.
Texto completo da fonte"Epigenetic Silencing of Progeroid Syndromes". In Epigenetics of Aging, E1. New York, NY: Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-0639-7_26.
Texto completo da fonte"Cockayne Syndrome: Its Overlap with Xeroderm a Pigmentosum and Other Progeroid Syndromes". In Molecular Mechanisms of Cockayne Syndrome, 99–108. CRC Press, 2009. http://dx.doi.org/10.1201/9781498712705-13.
Texto completo da fonteKresse, Hans. "Chapter 9 Progeroid form of Ehlers-Danlos syndrome". In New Comprehensive Biochemistry, 331–36. Elsevier, 1996. http://dx.doi.org/10.1016/s0167-7306(08)60295-1.
Texto completo da fonteTrabalhos de conferências sobre o assunto "Syndrome progeroïde"
Hartge, D., M. Gembicki e J. Weichert. "Angebornenes progeroides Syndrom aka Wiedemann-Rautenstrauch-Syndrom (WRS) – Eine seltene Ursache einer fetalen Wachstumsrestriktion". In Interdisziplinärer Kongress | Ultraschall 2018 – 42. Dreiländertreffen SGUM | DEGUM | ÖGUM. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1670389.
Texto completo da fonte