Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Cecilia Gascue"'
Publikováno v:
Revista Médica del Uruguay, Vol 22, Iss 1 (2006)
Las nuevas técnicas de biología molecular aplicadas al diagnóstico genético y el uso de marcadores moleculares posibilitan el estudio de los mecanismos que subyacen en la predisposición individual y familiar a padecer determinadas enfermedades.
Externí odkaz:
https://doaj.org/article/4b036a81828b48dbb5aedf8911a61cfb
Autor:
Cecilia Gascue, Soledad Astrada, Yangfan P. Liu, Jose L. Badano, Nicholas Katsanis, Tamara Fernández-Calero, Carlos Robello, Gabriela Libisch, Magdalena Cardenas-Rodriguez, Hugo Naya, Perciliz L. Tan
Publikováno v:
Journal of Cell Science
Journal of Cell Science, Company of Biologists, 2012, 125 (Pt 2), pp.362-75. ⟨10.1242/jcs.089375⟩
Journal of Cell Science, Company of Biologists, 2012, 125 (Pt 2), pp.362-75. ⟨10.1242/jcs.089375⟩
International audience; Primary cilia are conserved organelles that play crucial roles as mechano- and chemosensors, as well as transducing signaling cascades. Consequently, ciliary dysfunction results in a broad range of phenotypes: the ciliopathies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87859ca6e5930b0268b0d97fd9016a5a
https://doi.org/10.1242/jcs.089375
https://doi.org/10.1242/jcs.089375
Publikováno v:
Pediatric Nephrology
Pediatric Nephrology, Springer Verlag, 2011, 26 (8), pp.1181-95. ⟨10.1007/s00467-010-1697-5⟩
Pediatric Nephrology, Springer Verlag, 2011, 26 (8), pp.1181-95. ⟨10.1007/s00467-010-1697-5⟩
Ciliary dysfunction has emerged as a common factor underlying the pathogenesis of both syndromic and isolated kidney cystic disease, an observation that has contributed to the unification of human genetic disorders of the cilium, the ciliopathies. Su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be5d6410ddfa883552d1a376abefc1df
https://pubmed.ncbi.nlm.nih.gov/21113628
https://pubmed.ncbi.nlm.nih.gov/21113628
Autor:
Norann A. Zaghloul, Edwin C. Oh, Jantje M. Gerdes, Cecilia Gascue, Jose L. Badano, Rudolph L. Leibel, Jonathan Binkley, Yangjian Liu, Carmen C. Leitch, Nicholas Katsanis, Arend Sidow, Yana Bromberg
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2010, 107 (23), pp.10602-7. ⟨10.1073/pnas.1000219107⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2010, 107 (23), pp.10602-7. ⟨10.1073/pnas.1000219107⟩
Technological advances hold the promise of rapidly catalyzing the discovery of pathogenic variants for genetic disease. However, this possibility is tempered by limitations in interpreting the functional consequences of genetic variation at candidate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81675752e2fd408e751419a34c021a0a
https://europepmc.org/articles/PMC2890780/
https://europepmc.org/articles/PMC2890780/
Autor:
Hélène Dollfus, Andrew S. McCallion, Philip L. Beales, Nicholas Katsanis, Heather C. Etchevers, Anna Pelet, David M. McGaughey, Tania Attié-Bitach, Arnold Munnich, Jeanne Amiel, Clarisse Baumann, Jose L. Badano, Stanislas Lyonnet, Cecilia Gascue, Norann A. Zaghloul, Sophie Thomas, Candice Babarit, Loïc de Pontual, Seneca L. Bessling, Erica E. Davis
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2009, 106 (33), pp.13921-6. 〈10.1073/pnas.0901219106〉
Proceedings of the National Academy of Sciences; Vol 106
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2009, 106 (33), pp.13921-6. ⟨10.1073/pnas.0901219106⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2009, 106 (33), pp.13921-6. 〈10.1073/pnas.0901219106〉
Proceedings of the National Academy of Sciences; Vol 106
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2009, 106 (33), pp.13921-6. ⟨10.1073/pnas.0901219106⟩
Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET . HSCR also presents in vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d50a9b884888df2ccddb1dc2e9970df
https://hal-riip.archives-ouvertes.fr/pasteur-00604838/file/de_Pontual_et_al_2009.pdf
https://hal-riip.archives-ouvertes.fr/pasteur-00604838/file/de_Pontual_et_al_2009.pdf
Autor:
Cecilia Gascue, Horacio Cardoso, Pedro C. Hidalgo, Adriana Mimbacas, Mónica Sans, Juan Pablo Gallino, Bernardo Bertoni
Publikováno v:
Human biology. 77(6)
mtDNA Amerindian polymorphisms were studied in 108 inhabitants of Montevideo, Uruguay, using PCR RFLP analysis. Amerindian haplogroups were found in 20.4% of the sample. The frequency of Amerindian polymorphisms in Montevideo differed significantly f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6557ecb76cc96c11b5ac6418dc4b5085
https://pubmed.ncbi.nlm.nih.gov/16715843
https://pubmed.ncbi.nlm.nih.gov/16715843
Autor:
Cecilia Gascue, Philip L. Beales, Nicholas Katsanis, Jose L. Badano, Magdalena Cardenas-Rodriguez, Daniel P. S. Osborn, Florencia Irigoín
CCDC28B encodes a coiled coil domain-containing protein involved in ciliogenesis that was originally identified as a second site modifier of the ciliopathy Bardet-Biedl syndrome. We have previously shown that the depletion of CCDC28B leads to shorten
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8d432d2533b0551310de7d917e5b8f3