Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Matías Fabregat"'
Autor:
Matías Fabregat, Sofía Niño-Rivero, Sabrina Pose, Magdalena Cárdenas-Rodríguez, Mariana Bresque, Karina Hernández, Victoria Prieto-Echagüe, Geraldine Schlapp, Martina Crispo, Patricia Lagos, Natalia Lago, Carlos Escande, Florencia Irigoín, Jose L Badano
Publikováno v:
PLoS Genetics, Vol 18, Iss 6, p e1009896 (2022)
CCDC28B (coiled-coil domain-containing protein 28B) was identified as a modifier in the ciliopathy Bardet-Biedl syndrome (BBS). Our previous work in cells and zebrafish showed that CCDC28B plays a role regulating cilia length in a mechanism that is n
Externí odkaz:
https://doaj.org/article/1600228874ff479e88d5faccebff402c
Autor:
Rossina Novas, Magdalena Cardenas-Rodriguez, Paola Lepanto, Matías Fabregat, Magela Rodao, María Inés Fariello, Mauricio Ramos, Camila Davison, Gabriela Casanova, Lucía Alfaya, Federico Lecumberry, Gualberto González-Sapienza, Florencia Irigoín, Jose L. Badano
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-16 (2018)
Abstract Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal disease and mental retardation. CCDC28B is a BBS-associated protein that we have previously shown plays a role in cilia length reg
Externí odkaz:
https://doaj.org/article/b12b6dca1e794eb5831efb3cd8564235
Autor:
Santhosh Girirajan, Victoria Prieto-Echagüe, Patricia Lagos, Natalia Lago, Sofía Niño, Mariana Bresque, Jose L. Badano, Carlos Escande, Karina Hernández, Martina Crispo, Sabrina Pose, Matías Fabregat, Florencia Irigoín, Corrine Smolen, Magdalena Cardenas-Rodriguez, Geraldine Schlapp
CCDC28B (coiled-coil domain-containing protein 28B) was identified as a modifier in the ciliopathy Bardet-Biedl syndrome (BBS). Our previous work in cells and zebrafish showed that CCDC28B plays a role regulating cilia length in a mechanism that is n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d20bc0bf95bb7af904a8d5c8c985471b
https://doi.org/10.1101/2021.10.21.465251
https://doi.org/10.1101/2021.10.21.465251
Autor:
Eduardo Henderson, Florencia Díaz-Viraqué, Bernardina Rivera, Ignacio Ferrés, Adriana Nabón, Rodney Colina, Raquel Rosa, Marianoel Pereira-Gómez, Jose L. Badano, Diego Simón, Luis Barbeito, Alvaro Fajardo, Otto Pritsch, Andrés Abin, Fernando López-Tort, Carlos Robello, Gustavo Brito, Paula Perbolianachis, Gonzalo Greif, Leticia Zarantonelli, Fabián Aldunate, Rosario Durán, Ricardo Ehrlich, Fernando Paganini, Henry Cohen, Miguel Alegretti, Jorge Rodriguez-Duarte, Cecilia Fernández, María E. Cruces, Carlos Batthyány, Maria E. Francia, Gonzalo Moratorio, Mónica Marín, Cecilia Salazar, Juan Cristina, Gustavo Gagliano, Gregorio Iraola, Victoria Bonnecarrere, Paola Scavone, Alicia Costábile, Matías Fabregat, Rodrigo Arim, Miguel Sierra, Pilar Moreno, Mariana Bresque, Rafael Radi, Matías Maidana, Vanesa Piattoni, Estela Bidegain
BackgroundSouth America has become the new epicenter of the COVID-19 pandemic with more than 1.1M reported cases and >50,000 deaths (June 2020). Conversely, Uruguay stands out as an outlier managing this health crisis with remarkable success.MethodsW
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f912f7f7038e96fdcf6fb0fb3525f8e
https://doi.org/10.1101/2020.07.24.20161802
https://doi.org/10.1101/2020.07.24.20161802
Autor:
Gerardo Javiel, Matías Fabregat, Carolina Beloso, Adriana Mimbacas, Jorge Souto, Gerardo Romanelli
Publikováno v:
World Journal of Diabetes. 9:157-164
AIM To investigate if mutations in TCF7L2 are associated with "atypical diabetes" in the Uruguayan population. METHODS Healthy, nondiabetic controls (n = 133) and patients with type 2 diabetes (n = 177) were selected from among the presenting populat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8033293bd1d0b75079808cdfa350fa4
https://doi.org/10.4239/wjd.v9.i9.157
https://doi.org/10.4239/wjd.v9.i9.157
Autor:
Federico Lecumberry, Lucía Alfaya, Camila Davison, Gabriela Casanova, Jose L. Badano, Paola Lepanto, Florencia Irigoín, Rossina Novas, Mauricio Ramos, María Inés Fariello, Magela Rodao, Matías Fabregat, Gualberto González-Sapienza, Magdalena Cardenas-Rodriguez
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-16 (2018)
Scientific Reports
COLIBRI
Universidad de la República
instacron:Universidad de la República
Scientific Reports
COLIBRI
Universidad de la República
instacron:Universidad de la República
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal disease and mental retardation. CCDC28B is a BBS-associated protein that we have previously shown plays a role in cilia length regulation w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7365c2c2cbcc3d61fd3b2f1c9ca93972
https://doaj.org/article/b12b6dca1e794eb5831efb3cd8564235
https://doaj.org/article/b12b6dca1e794eb5831efb3cd8564235
Publikováno v:
Journal of Diabetes Research
Journal of Diabetes Research, Vol 2015 (2015)
Journal of Diabetes Research, Vol 2015 (2015)
The complex diagnosis and treatment of diabetes highlight the need for markers to define how to monitor patients correctly during the course of their disease. Different studies demonstrate the existence of patients who cannot be clearly classified. W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cdfb0d4162da9992a13e98d37198a85
http://europepmc.org/articles/PMC4530254
http://europepmc.org/articles/PMC4530254
Publikováno v:
World Journal of Diabetes. 5:711
AIM: To investigate whether the presence of human leukocyte antigen (HLA) marker could add new information to discriminated atypical diabetic type 2 patients. METHODS: We analyzed 199 patients initially diagnosed as type 2 diabetes who are treated in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af3a2b58c6a4f4404b23e83b30c20ac
https://doi.org/10.4239/wjd.v5.i5.711
https://doi.org/10.4239/wjd.v5.i5.711
Publikováno v:
Journal of Diabetes Research, Vol 2015 (2015)
The complex diagnosis and treatment of diabetes highlight the need for markers to define how to monitor patients correctly during the course of their disease. Different studies demonstrate the existence of patients who cannot be clearly classified. W
Externí odkaz:
https://doaj.org/article/67ebebc2a179425c97cb0169ed7c1b0a
Autor:
Fernández M; Mariana Fernández, Matías Fabregat, Gerardo Javiel, Adriana Mimbacas, Biodiversity and Genetic Department, Instituto de Investigaciones Biológicas Clemente Estable, Montevideo, CP 11600, Uruguay., Fabregat M; Mariana Fernández, Matías Fabregat, Gerardo Javiel, Adriana Mimbacas, Biodiversity and Genetic Department, Instituto de Investigaciones Biológicas Clemente Estable, Montevideo, CP 11600, Uruguay., Javiel G; Mariana Fernández, Matías Fabregat, Gerardo Javiel, Adriana Mimbacas, Biodiversity and Genetic Department, Instituto de Investigaciones Biológicas Clemente Estable, Montevideo, CP 11600, Uruguay., Mimbacas A; Mariana Fernández, Matías Fabregat, Gerardo Javiel, Adriana Mimbacas, Biodiversity and Genetic Department, Instituto de Investigaciones Biológicas Clemente Estable, Montevideo, CP 11600, Uruguay.
Publikováno v:
World journal of diabetes [World J Diabetes] 2014 Oct 15; Vol. 5 (5), pp. 711-6.