1,969 research outputs found
Estudio molecular del gen de la enfermedad de von Hippel-Lindau (VHL) : detección de portadores y caracterización funcional de nuevas variantes génicas
No full textvon Hippel-Lindau disease is an autosomal dominant cancer syndrome caused by mutations in the VHL tumor suppressor gene. VHL protein (pVHL) forms a complex (VBC) with Elongins B-C, Cullin2 and Rbx1. Although other functions have been discovered, the most described function of pVHL is to recognize and target hypoxia inducible factor (HIF) for degradation. This thesis comprises the implementation of the analysis of large deletions, to enable the complete study of the gene, and the functional characterization of two novel variants of the gene by in vitro, in vivo and in silico approaches.\nOur results underline the importance of the complete genetic study of the VHL gene for the confirmation of von Hippel-Lindau disease, not only in patients with clinical diagnostic criteria, but also in those patients presenting a single typical manifestation, enabling their correct diagnosis and follow-up. Based on the in vitro, in vivo and in silico studies, we have demonstrated the pathogenicity of P138R and L163R novel variants, involving HIF dependent and HIF independent mechanisms. These results provide the basis for future studies regarding the impact of structural alterations on post translational modifications that drive pVHL?s fate and functions.Fil: Mathó Pacielo, Cecilia. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Buenos Aires, ArgentinaLa enfermedad de von Hippel-Lindau (VHL) es un desorden hereditario, autosómico dominante, causado por mutaciones en el gen supresor tumoral VHL. La proteína VHL (pVHL) forma un complejo (VBC) con las Elonguinas B y C, Culina 2 y Rbx1. La función más descripta de pVHL es la de regular los niveles de las subunidades ? de HIF.\nLa presente tesis consistió de la implementación de un método de detección de deleciones en este gen, para ofrecer un estudio genético completo, y la caracterización funcional de dos nuevas variantes génicas.\nNuestros resultados destacan la importancia de realizar el estudio genético completo del gen de la enfermedad de VHL para la confirmación de enfermedad de VHL, no sólo en pacientes con diagnóstico clínico de la misma, sino también en pacientes que presentan una única manifestación típica de la enfermedad, permitiendo su diagnóstico y seguimiento apropiados. Mediante los estudios in vitro, in vivo e in silico hemos demostrado la patogenicidad de las variantes P138R y L163R que involucra mecanismos dependientes e independientes de HIF. Asimismo, estos resultados aportan la base para futuros estudios considerando el impacto de las alteraciones estructurales en las modificaciones post-traduccionales que determinan el destino y función de pVHL.Ciencia de la saludDoctora de la Universidad de Buenos Aires en Farmacia y Bioquímic
Variations on the Author
No full text“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions
No full textThe von Hippel–Lindau (VHL) disease is an autosomal dominant cancer syndrome caused by mutations in the VHL tumor suppressor gene. VHL protein (pVHL) forms a complex (VBC) with Elongins B-C, Cullin2, and Rbx1. Although other functions have been discovered, the most described function of pVHL is to recognize and target hypoxia-inducible factor (HIF) for degradation. This work comprises the functional characterization of two novel variants of the VHL gene (P138R and L163R) that have been described in our center in patients with VHL disease by in vitro, in vivo, and in silico approaches. In vitro, we found that these variants have a significantly shorter half-life compared to wild-type VHL but still form a functional VBC complex. Altered fibronectin deposition was evidenced for both variants using immunofluorescence. In vivo studies revealed that both variants failed to suppress tumor growth. By means of molecular dynamics simulations, we inspected in silico the nature of the changes introduced by each variant in the VBC complex. We have demonstrated the pathogenicity of P138R and L163R novel variants, involving HIF-dependent and HIF-independent mechanisms. These results provide the basis for future studies regarding the impact of structural alterations on posttranslational modifications that drive pVHL’s fate and functions.Fil: Mathó Pacielo, Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Fernández, María Celia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Bonanata, Jenner. Universidad de la República; UruguayFil: Liu, Xian-De. Md Anderson Cancer Center ; University Of Texas;Fil: Martin, Ayelen. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Vieites, Ana María. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Sanso, Elsa Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Barontini, Marta Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Jonasch, Eric. Md Anderson Cancer Center ; University Of Texas;Fil: Coitiño, E. Laura. Universidad de la Republica; UruguayFil: Pennisi, Patricia Alejandra. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentin
Letter from Cecilia Shepperd, National Training School, to Caleb Foote, March 23, 1942
No full textLetter from Cecilia Shepperd from the National Training School in Kansas City, Missouri to Caleb Foote, writing that the school could "take care of 3 young Japanese women," and asking Foote to follow up with school president Cloyd V. Gustafson, "a strong F.O.R. man from California."Personal correspondence, organizational records, government documents, publications, and other papers created or collected by Joseph R. Goodman documenting the forced removal and incarceration of Japanese Americans during World War II, as well as organized resistance to incarceration. Included in the collection are records of the Japanese Young Men's Christian Association and the Japanese American Citizens' League in San Francisco, including papers of the Japanese YMCA's executive secretary Lincoln Kanai; Sakai family papers; Goodman's correspondence to and from Japanese American incarcerees, organizations opposing forced removal and incarceration of Japanese Americans, the War Relocation Authority, and others; publications, photographs, and ephemera from the Topaz Relocation Center, where Goodman taught high school; War Relocation Authority records and publications; and newspaper clippings, pamphlets, and reports about forced removal and incarceration created by various government, religious, and civic organizations, in California and nationwide
Santa Cecilia Acatitlán: Estado de México
No full textLa información de esta miniguía se basa en los trabajos de Felipe Solís.Durante el periodo Postclásico Tardío (12OO a 1521 d.C.) se llevaron a cabo en la Cuenca de México grandes movimientos culturales y migratorios que originaron uno de los más importantes desarrollos del México antiguo: el de los mexicas. El estudio de los materiales arqueológicos recuperados en las primeras exploraciones -escultura y cerámica- , así como de las características arquitectónicas del edificio que Brasero ceremonial, parte superior del basamento se conserva, no han permitido conocer la extensión del sitio, el número de edificios que conformaban el centro, ni cuáles eran las zonas de habitación. Sin embargo, se sabe que su economía estuvo ligada a los depósitos lacustres de agua dulce o salada y a la agricultura. Se explotaron la fauna, la flora, la sal y el tequesquite, este último se utilizaba en el proceso de cocción del maíz. Se ha descubierto que Acatitlan está cultural y políticamente ligado a los mexicas, aunque no se le menciona en los textos indígenas de la época ni en las fuentes históricas de la conquista o de la Colonia, por lo cual se supone que fue abandonado antes del arribo de los españoles.</p
Cecilia Vicuña, 27th Annual ODU Literary Festival
No full textCecilia Vicuña is a Chilean poet, visual and performance artist and filmmaker, and the author of fourteen poetry books published in Europe, Latin America and the US. She performs and exhibits her work widely at national and international venues. She has an MFA from the University of Chile in Santiago, and she did her postgraduate work at the Slade School of Fine Arts, University College, London. The recipient of many honors, she received The Pennies from Heaven Award, 2002, The Anonymous Was a Woman Award, l999, The Lila Wallace-Reader’s Digest Arts International Award in l992, The Fund for Poetry Award in l995-96 and The Human Rights Award from the Fund for Free Expression in New York in l985. Her poetry has been widely anthologized, most recently in: The Book of the Book, edited by Jerome Rothenberg and Steve Clay, Granary Books, 2000 and Poems for the Millennium, edited by Jerome Rothenberg and Pierre Joris, University of California, l997. Her most recent books include Instan, Kelsey St. Press, 2002; El Templo, translated by Rosa Alcalá, Situations, New York, 2001; Cloud-Net, trans. by Rosa Alcalá, and QUIPOem/ The Precarious, The Art and Poetry of Cecilia Vicuña, edited by M. Catherine de Zegher and translated by Esther Allen, Wesleyan University Press, l997.
Recent solo performances include: University of Cambridge Contemporary Poetry Conference, England, 2002, The Museum of Modern Art, New York, 2001, The Palais des Beaux Arts, Brussels, 2001, IVAM, Valencia, 2001, Tucher Literary Salon, Berlin, 2001,Temple University, 2000, Art in General, New York, l999, Kunst museum, Berne, l998, Whitney Museum of American Art, New York, l997, St Mark’s Poetry Project, New York, l999, Whitechapel Art Gallery, London, l996, Royal Botanical Gardens, Edinburgh, l996, Institute of Contemporary Arts, Boston, l996.
Her films and videos have been exhibited at the Museum of Modern Art, New York, Museo de Arte Contemporáneo, Santiago, Art in General, New York, The Museum of PreColumbian Art, Chile, Museo Etnográfico de la Universidad de Buenos Aires, The Brooklyn Museum of Art and at the Cinarchea International Film Festival, Kiel, Germany, Museo Reina Sofia en Madrid, y Museo de Are Contemporáneo de Barcelona
Camilla [electronic resource] : or, a picture of youth. By the author of Evelina and Cecilia. In three volumes.
No full textAuthor of Evelina and Cecilia = Frances d'Arblay.Edited from imperfect title page affecting imprint.Vol. II printed by Graisberry and Campbell.Vol. III printed by H. Fitzpatrick.Electronic reproduction.English Short Title Catalog,Reproduction of original from British Library
VHL germline mutations in Argentinian patients with clinical diagnosis or single typical manifestations of type 1 von Hippel-Lindau disease
No full textAims: von Hippel-Lindau (VHL) disease is caused by mutations in the VHL tumor-suppressor gene. As tumors that develop in the context of VHL also occur in a sporadic context, the frequency of this syndrome may be underestimated. Our aim was to identify VHL gene mutations in Argentinian patients who fulfilled the clinical criteria for type 1 VHL disease and in patients with VHL-associated manifestations that did not meet these criteria. Methods: We performed a retrospective cohort study including patients who met current diagnostic criteria for type 1 VHL (Group 1, n=19) and patients with VHL-associated manifestations that did not meet these criteria (Group 2, n=21). Genomic DNA was extracted from peripheral blood leukocytes. Mutation analysis involved DNA sequencing, while large deletions were determined by universal primer quantitative fluorescent multiplex PCR (UPQFM-PCR) and MLPA analysis. Results: The VHL mutations detected in 16/19 (84.2%) patients included in Group 1 were: gross deletions (4/16) and nonsense (6/16), frameshift (4/16), missense (1/16) and splicing (1/16) mutations, 3 of which were novel. No alterations were found in 3/19 patients. In Group 2, one nonsense VHL mutation was detected in a young patient with a solitary CNS hemangioblastoma without familial history. The study of 30 first-degree relatives revealed 4 carriers with VHL mutations. Conclusions: we found 3 novel mutations in the VHL gene in our population. Our results emphasize the importance of a complete genetic study of VHL to confirm type 1 von Hippel-Lindau disease, not only in patients with clinical diagnostic criteria but also in those presenting a single typical manifestation.Fil: Mathó Pacielo, Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; ArgentinaFil: Sanso, Elsa Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; ArgentinaFil: Diez, Blanca. Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia; ArgentinaFil: Barontini, Marta Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; ArgentinaFil: Pennisi, Patricia Alejandra. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas ; Argentin
A progressive roadmap for expanding European digital sovereignty
No full textauthor: Cecilia Rikap, associate professor in economics and head of reserach, University College London's Institute for Innovation and Public Purpose (IIPP)In Partnership with Friedrich-Ebert-Stiftun
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