Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Sofia M. Calado"'
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103594- (2024)
Mutations in the Budding uninhibited by benzimidazoles (BUB1) gene were recently associated with neurodevelopmental disorders (Carvalhal et al., 2022). Here, we describe the generation and characterization of two induced pluripotent stem cells (iPSC)
Externí odkaz:
https://doaj.org/article/583031031b864f3d9f855ca462eeedd8
Autor:
Cátia D. Correia, Anita Ferreira, Mónica T. Fernandes, Bárbara M. Silva, Filipa Esteves, Helena S. Leitão, José Bragança, Sofia M. Calado
Publikováno v:
Cells, Vol 12, Iss 13, p 1727 (2023)
Cardiovascular diseases (CVDs) are pointed out by the World Health Organization (WHO) as the leading cause of death, contributing to a significant and growing global health and economic burden. Despite advancements in clinical approaches, there is a
Externí odkaz:
https://doaj.org/article/bb134f253db54345ac35519a3a72a601
Autor:
Lourdes Valdés-Sánchez, Sofia M. Calado, Berta de la Cerda, Ana Aramburu, Ana Belén García-Delgado, Simone Massalini, Adoración Montero-Sánchez, Vaibhav Bhatia, Eduardo Rodríguez-Bocanegra, Andrea Diez-Lloret, Daniel Rodríguez-Martínez, Christina Chakarova, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Publikováno v:
Molecular Medicine, Vol 26, Iss 1, Pp 1-22 (2019)
Abstract Background Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the pathophysiology of
Externí odkaz:
https://doaj.org/article/4203642594924275af0ef4649cdbe192
Publikováno v:
Stem Cell Research, Vol 55, Iss , Pp 102462- (2021)
Left Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by abnormal number and prominence of trabeculations of the left ventricle of the heart. Although LVNC has been associated with mutations in several genes encoding for transcription
Externí odkaz:
https://doaj.org/article/66ce82d9d2404321b55cf9f86ba0bbf2
Autor:
Sofia M. Calado, Ana B. Garcia-Delgado, Berta De la Cerda, Beatriz Ponte-Zuñiga, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 251-254 (2018)
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a h
Externí odkaz:
https://doaj.org/article/9340379e151f4186b0f2dfce0b98d223
Autor:
Sofia M. Calado, Dina Bento, David Justino, Leonardo Mendes-Silva, Nuno Marques, José Bragança
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102302- (2021)
Left Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by excessive trabeculation of the left ventricle. To date, mutations in more than 40 genes have been associated with LVNC, however the exact mechanisms underlying the disease remai
Externí odkaz:
https://doaj.org/article/dfda4fcf8c6e47888841752b46f567b0
Autor:
Ana B. Garcia-Delgado, Sofia M. Calado, Lourdes M. Valdes-Sanchez, Adoracion Montero-Sanchez, Beatriz Ponte-Zuñiga, Berta de la Cerda, Shom Shanker Bhattacharya, Francisco J. Diaz-Corrales
Publikováno v:
Stem Cell Research, Vol 38, Iss , Pp - (2019)
Age-related macular degeneration (AMD) is the leading cause of adult blindness in developed countries and is characterized by progressive degeneration of the macula, the central region of the retina. A human induced pluripotent stem cell (hiPSC) line
Externí odkaz:
https://doaj.org/article/25701f14c20e4f0997f383d28d1405be
Autor:
Berta de la Cerda, Andrea Díez-Lloret, Beatriz Ponte, Laura Vallés-Saiz, Sofia M. Calado, Eduardo Rodríguez-Bocanegra, Ana B. Garcia-Delgado, Marina Moya-Molina, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Publikováno v:
Stem Cell Research, Vol 36, Iss , Pp - (2019)
PRPF31 gene codes for a ubiquitously expressed splicing factor but mutations affect exclusively the retina, producing the progressive death of photoreceptor cells. We have identified a novel PRPF31 mutation in a patient with autosomal dominant retini
Externí odkaz:
https://doaj.org/article/bbbee2807e8843b19c94bf566e287f42
Retinitis Pigmentosa (RP) is one of main causes of inherited blindness, with about 6% of cases caused by a single mutation in the PDE6β gene, making it an ideal candidate for a gene therapy intervention. Gene therapy has been shown to restore normal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4f363dcb25aa74705574bf286303d47
https://doi.org/10.1101/2023.05.04.538567
https://doi.org/10.1101/2023.05.04.538567
Autor:
İlhan E. Acar, Laura Lores-Motta, Johanna M. Colijn, Magda A. Meester-Smoor, Timo Verzijden, Audrey Cougnard-Gregoire, Soufiane Ajana, Benedicte M.J. Merle, Anita de Breuk, Thomas J. Heesterbeek, Erik van den Akker, Mohamed R. Daha, Birte Claes, Daniel Pauleikhoff, Hans-Werner Hense, Cornelia M. van Duijn, Sascha Fauser, Carel B. Hoyng, Cécile Delcourt, Caroline C.W. Klaver, Tessel E. Galesloot, Anneke I. den Hollander, Blanca Arango-Gonzalez, Angela Armento, Franz Badura, Vaibhav Bhatia, Shomi S. Bhattacharya, Marc Biarnés, Anna Borrell, Sofia M. Calado, Sascha Dammeier, Berta De la Cerda, Francisco J. Diaz-Corrales, Sigrid Diether, Eszter Emri, Tanja Endermann, Lucia L. Ferraro, Míriam Garcia, Sabina Honisch, Ellen Kilger, Elod Kortvely, Claire Lastrucci, Hanno Langen, Imre Lengyel, Phil Luthert, Jordi Monés, Everson Nogoceke, Tunde Peto, Frances M. Pool, Eduardo Rodriguez-Bocanegra, Luis Serrano, Jose Sousa, Eric Thee, Marius Ueffing, Karl U. Ulrich Bartz-Schmidt, Markus Zumbansen
Publikováno v:
Ophthalmology. 127:1693-1709
Purpose: The current study aimed to identify metabolites associated with age-related macular degeneration (AMD) by performing the largest metabolome association analysis in AMD to date, as well as aiming to determine the effect of AMD-associated gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8df39601f8796132fc1f1fa46abaa412
https://doi.org/10.1016/j.ophtha.2020.06.020
https://doi.org/10.1016/j.ophtha.2020.06.020