Добірка наукової літератури з теми "Cellular mosaicism"
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Статті в журналах з теми "Cellular mosaicism"
Hagerman, Randi J., and Paul J. Hagerman. "X Inactivation and Cellular Mosaicism." JAMA 296, no. 8 (August 23, 2006): 930. http://dx.doi.org/10.1001/jama.296.8.930-c.
Повний текст джерелаSapienza, Carmen. "Genome imprinting, cellular mosaicism and carcinogenesis." Molecular Carcinogenesis 3, no. 3 (1990): 118–21. http://dx.doi.org/10.1002/mc.2940030303.
Повний текст джерелаMigeon, Barbara R. "X Inactivation and Cellular Mosaicism—Reply." JAMA 296, no. 8 (August 23, 2006): 930. http://dx.doi.org/10.1001/jama.296.8.931-a.
Повний текст джерелаIourov, Ivan Y., Svetlana G. Vorsanova, Yuri B. Yurov, and Sergei I. Kutsev. "Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism." Genes 10, no. 5 (May 19, 2019): 379. http://dx.doi.org/10.3390/genes10050379.
Повний текст джерелаHornig, Nadine C., Jeta Demiri, Pascal Rodens, Eva Maria Murga Penas, Almuth Caliebe, Anne Katrin Eckstein, Hans-Udo Schweikert, et al. "Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism." Journal of Clinical Endocrinology & Metabolism 104, no. 10 (June 10, 2019): 4630–38. http://dx.doi.org/10.1210/jc.2019-00108.
Повний текст джерелаKatsuda, Tadaaki. "Sub-GOFA: A tool for Sub-Gene Ontology function analysis in clonal mosaicism using semantic (logical) similarity." Bioinformation 18, no. 1 (January 31, 2022): 53–60. http://dx.doi.org/10.6026/97320630018053.
Повний текст джерелаLim, Young H., Jonathan M. Fisher, and Keith A. Choate. "Revertant mosaicism in genodermatoses." Cellular and Molecular Life Sciences 74, no. 12 (February 6, 2017): 2229–38. http://dx.doi.org/10.1007/s00018-017-2468-2.
Повний текст джерелаMeyer-Mueller, Cameron, Mark J. Osborn, Jakub Tolar, Christina Boull, and Christen L. Ebens. "Revertant Mosaicism in Epidermolysis Bullosa." Biomedicines 10, no. 1 (January 6, 2022): 114. http://dx.doi.org/10.3390/biomedicines10010114.
Повний текст джерелаGiri, Neelam, Ken Matsui, Blanche P. Alter, Sharon A. Savage, Yuanji Pan, and Ligia Pinto. "Bone Marrow Cellular Composition and Inflammatory Cytokine Expression in Patients with Inherited Bone Marrow Failure Syndromes." Blood 120, no. 21 (November 16, 2012): 4401. http://dx.doi.org/10.1182/blood.v120.21.4401.4401.
Повний текст джерелаKim, Han-Joon, and Beom S. Jeon. "Hypothesis: Somatic Mosaicism and Parkinson Disease." Experimental Neurobiology 23, no. 4 (December 31, 2014): 271–76. http://dx.doi.org/10.5607/en.2014.23.4.271.
Повний текст джерелаДисертації з теми "Cellular mosaicism"
Rafferty, Kelly A. "Comparisons of Isogenic Trisomic and Disomic Cells from People with Mosaicism for Down Syndrome Unmask Cellular Differences Related to Trisomy 21." VCU Scholars Compass, 2017. http://scholarscompass.vcu.edu/etd/4899.
Повний текст джерелаCozzi, Jean. "Apport de la micro-injection à l'étude du pouvoir fécondant et du genome du spermatozoide humain." Université Joseph Fourier (Grenoble), 1995. http://www.theses.fr/1995GRE10027.
Повний текст джерелаKolc, Kristy Louise. "Variable Clinical and Molecular Expressivity of PCDH19 Variants and Girls Clustering Epilepsy A disorder of cellular "mosaics"." Thesis, 2020. http://hdl.handle.net/2440/126965.
Повний текст джерелаThesis (Ph.D.) -- University of Adelaide, Adelaide Medical School, 2020
Lopes, Miguel Monteiro. "AAV-Based Tools For The Development Of Cellular and Animal Models of Machado-Joseph Disease." Master's thesis, 2017. http://hdl.handle.net/10316/81395.
Повний текст джерелаA doença de Machado-Joseph (DMJ), também conhecida como ataxia espinocerebelosa do tipo 3 é uma doença neurodegenerativa caracterizada por uma expansão anormal do tripleto CAG na região codificante do gene MJD1/ATXN3, o que se traduz numa expansão de uma cadeia de poliglutaminas na proteína ataxina-3. Esta expansão de CAGs anormalmente longa confere toxicidade à proteína ataxina-3 produzida que através de múltiplos mecanismos patogénicos culminando em neurodegenerescência em diversas regiões do cérebro.As abordagens terapêuticas atuais consistem principalmente em sessões de fisioterapia e no alívio farmacológico sintomático de sintomas específicos, constituindo a força motriz para o desenvolvimento de novas abordagens terapêuticas.Os diversos modelos existentes de DMJ têm sido ferramentas indispensáveis para a identificação dos mecanismos intrínsecos da doença, bem como para a validação de novas terapias. No entanto, modelos transgénicos de murganho são altamente dispendiosos, necessitam de longos períodos para o desenvolvimento de fenótipo, não recapitulando algumas das características desta doença. O nosso grupo foi pioneiro no desenvolvimento de um modelo roedor da DMJ com base em vetores lentivirais. Apesar das inúmeras vantagens deste modelo, este envolve intervenção cirúrgica (craniotomia), injeção localizada no parênquima cerebral, estando a patologia confinada ao local de injeção. Estas evidências demonstram a urgência no desenvolvimento de novos modelos que expressem ataxina-3 mutante de forma ubíqua no Sistema Nervoso Central (SNC), providenciando novas perspetivas relacionadas com os mecanismos da doença, permitindo ainda a avaliação do potencial de novas terapias.O rápido desenvolvimento de ferramentas baseadas em Vírus Adeno-Associados (AAV), tornou-se um dos mais promissores sistemas de entrega de genes a uma grande variedade de tipos celulares, através de diferentes vias de administração.O objetivo do presente trabalho foi o desenvolvimento de novas estratégias baseadas no uso de vetores mosaico de AAV para gerar modelos in vitro e in vivo de DMJ. Para tal, foram desenvolvidos vetores mosaico AAV1/2 e AAV2/9 codificando para a ataxina-3 humana mutada direcionados para o SNC. Esta abordagem providenciou o desenvolvimento de modelos de DMJ com elevada relevância fisiológica em tempo-útil e com uma boa relação custo-benefício, ultrapassando algumas das limitações mencionadas anteriormente.Resumidamente, este estudo fornece forte evidências que os vetores AAVs gerados são capazes de transduzir o SNC após injeção intracraniana (AAV1/2) ou intravenosa (AAV2/9), sobre expressando a ataxina-3 mutante completa não só em modelos in vitro como também in vivo, recapitulando algumas das principais características da DMJ.
Machado-Joseph Disease (MJD) or Spinocerebellar Ataxia type 3 (SCA3) is a neurodegenerative disorder characterized by an abnormal expansion of the CAG triplet in the coding region of MJD-1/ATXN3 gene, translating into an expanded polyglutamine tract within the ataxin-3 protein. This abnormally long CAG expansion, confers a toxic gain of function to the ataxin-3 protein that through multiple pathogenic mechanisms leads to neurodegeneration in several brain regions. Current therapeutic approaches consist mainly in the use of physiotherapy and in the pharmacological alleviation of specific symptoms, thus encouraging further investigation towards possible therapeutic approaches.The several existing models of MJD have been useful tools that largely contributed to the identification of intrinsic pathways affecting the disease as well as the validation of new therapies. However, transgenic mouse models are expensive, take long periods of time to develop a phenotype, or do not recapitulate some of the hallmarks of this disease. Our group was pioneer in developing cost-effective lentiviral-based rodent models of MJD. Despite the numerous advantages of this model, it involves craniotomy, in situ injection in the brain parenchyma and the pathology is only confined to the local of injection. In light of these evidences, there is an urgent need for new mouse models that widely express mutant ataxin-3 throughout the Central Nervous System (CNS), potentially providing new insights into the disease mechanisms and allowing screening of novel therapies.The rapidly expanding Adeno-Associated Virus (AAV) vector toolkit has become one of the most promising viral vectors delivering genetic cargo to a wide range of cell types through different routes of administration. In the present work, we aimed to develop new strategies based on the use of mosaic rAAV vectors, to generate in vitro and in vivo models of MJD. For that purpose, mosaic vectors AAV1/2, and AAV2/9 encoding the mutant human ataxin-3 have been developed to efficiently target and transduce the CNS. This approach provided physiologically relevant, time-effective, and cost-effective models for MJD, circumventing some of the limitations of above-mentioned models.In summary, this study provides compelling evidence that the generated mosaic rAAVs are able to efficiently transduce the CNS upon intracranial (AAV1/2) or intravenous injection (AAV2/9), and overexpress full-length mutant ataxin-3 both in vitro and in vivo, recapitulating some of the hallmarks of MJD.
FCT
Outro - American Portuguese Biomedical Research Fund (APBRF)
Outro - BrainHealth2020 (CENTRO-01-0145-FEDER-000008)
Outro - CortaCAGs (POCI-01-0145-FEDER-016719)
Outro - H2020 da União Europeia, GA No. 643417
Outro - “National Ataxia Foundation” (USA)
Outro - POCI-01-0145-FEDER-007440
Outro - Richard Chin and Lily Lock Machado Joseph Disease Research Fund
Outro - ViraVector (CENTRO-01-0145-FEDER- 022095)
Частини книг з теми "Cellular mosaicism"
Eglen, Stephen J. "Cellular Spacing: Analysis and Modelling of Retinal Mosaics." In Computational Systems Neurobiology, 365–85. Dordrecht: Springer Netherlands, 2012. http://dx.doi.org/10.1007/978-94-007-3858-4_12.
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