Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Daniel Bachiller"'
Autor:
Aarne Fleischer, Sara Vallejo-Díez, José María Martín-Fernández, Almudena Sánchez-Gilabert, Mónica Castresana, Angel del Pozo, Amaia Esquisabel, Silvia Ávila, José Luis Castrillo, Eusebio Gaínza, José Luis Pedraz, Miguel Viñas, Daniel Bachiller
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 858-870 (2020)
Cystic fibrosis (CF) is the main genetic cause of death among the Caucasian population. The disease is characterized by abnormal fluid and electrolyte mobility across secretory epithelia. The first manifestations occur within hours of birth (meconium
Externí odkaz:
https://doaj.org/article/11545b4af48049c5a01d387f4a409baa
Autor:
Sara Vallejo-Diez, Aarne Fleischer, José María Martín-Fernández, Almudena Sánchez-Gilabert, Daniel Bachiller
Publikováno v:
Stem Cell Research, Vol 33, Iss , Pp 180-184 (2018)
Mucopolysaccharydosis IIIB is the second most frequent form of Sanfilippo syndrome, a degenerative, pediatric lysosomal storage disease (LSD) characterized by severe neurological disorders and death. We have generated two iPSCs lines derived from der
Externí odkaz:
https://doaj.org/article/70ec5636f1584d81a1aa4dc48be0de3c
Autor:
Sara Vallejo-Diez, José María Martín-Fernández, Almudena Sánchez-Gilabert, Aarne Fleischer, Antoni Gayá, Mónica Castresana, Daniel Bachiller
Publikováno v:
Stem Cell Research, Vol 47, Iss , Pp 101918- (2020)
A 32 base pair deletion in the C-C chemokine receptor type gene (CCR5-Δ32), the main Human Immunodeficiency Virus (HIV) co-receptor results in a non-functional protein. Individuals homozygous for the CCR5-Δ32 mutation are resistant to HIV infection
Externí odkaz:
https://doaj.org/article/4b4f4be01612411889c71cd4c909d524
Autor:
Sara Vallejo-Diez, Aarne Fleischer, José María Martín-Fernández, Almudena Sánchez-Gilabert, Carmelo Gómez-Martínez, Mónica Castresana, Daniel Bachiller
Publikováno v:
Stem Cell Research, Vol 47, Iss , Pp 101917- (2020)
Psoriasis is a chronic inflammatory skin disease that speeds up the life cycle of skin cells, forming scales and red patches that are itchy and sometimes painful. It is a complex disease of autoimmune origin and genetic predisposition with more than
Externí odkaz:
https://doaj.org/article/eccafaa7ae024c16a2dd547f6778e36f
Autor:
Sara Vallejo, Aarne Fleischer, José María Martín, Almudena Sánchez, Esther Palomino, Daniel Bachiller
Publikováno v:
Stem Cell Research, Vol 32, Iss , Pp 110-114 (2018)
Mucoplysaccharydosis IIIA (MPSIIIA) is the most severe form of Sanfilippo syndrome. Skin fibroblasts from a MPSIIIA compound heterozygous (E447K/R245H) patient were nucleofected with four OriP/EBNA1-based episomal plasmids containing: OCT3/4, SOX2, K
Externí odkaz:
https://doaj.org/article/05f15b0ebd7341568b70e66dc59453fd
Generation of two induced pluripotent stem cell (iPSC) lines from p.F508del Cystic Fibrosis patients
Autor:
Aarne Fleischer, Iván M. Lorenzo, Esther Palomino, Trond Aasen, Fernando Gómez, Miguel Servera, Víctor J. Asensio, Víctor Gálvez, Juan Carlos Izpisúa-Belmonte, Daniel Bachiller
Publikováno v:
Stem Cell Research, Vol 29, Iss , Pp 1-5 (2018)
Cystic Fibrosis (CF) is a monogenic, lethal disease caused by mutations in the cystic fibrosis transmembrane conductance (CFTR) gene. Here we report the production of CF-iPS cell lines from two different p.F508del homozygous female patients (Table 1)
Externí odkaz:
https://doaj.org/article/7d340015e5a646fd956bf50ed2de16bc
Autor:
Sara Vallejo-Diez, Aarne Fleischer, Jose María Martín-Fernández, Almudena Sánchez-Gilabert, Mónica Castresana, David Aguillón, Andrés Villegas, Claudio A. Mastronardi, Lady G. Espinosa, Mauricio Arcos-Burgos, Ángel del Pozo, Enara Herrán, Eusebio Gainza, Mario Isaza-Ruget, Francisco Lopera, Daniel Bachiller
Publikováno v:
Stem Cell Research, Vol 37, Iss , Pp - (2019)
The mutation E280A in PSEN1 (presenilin-1) is the most common cause of early-onset familial Alzheimer's Disease (fAD). It presents autosomal dominant inheritance and frequently leads to the manifestation of the disease in relatively young individuals
Externí odkaz:
https://doaj.org/article/44134959c1234a2a8681252f9109c728
Autor:
José María Martín-Fernández, Aarne Fleischer, Almudena Sánchez-Gilabert, Sara Vallejo-Diez, Daniel Bachiller
Publikováno v:
Stem Cell Research, Vol 33, Iss, Pp 180-184 (2018)
Mucopolysaccharydosis IIIB is the second most frequent form of Sanfilippo syndrome, a degenerative, pediatric lysosomal storage disease (LSD) characterized by severe neurological disorders and death. We have generated two iPSCs lines derived from der
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9072d4e883bda516b3d48a93267ed2a1
https://doi.org/10.1016/j.scr.2018.10.019
https://doi.org/10.1016/j.scr.2018.10.019
Autor:
Aarne Fleischer, Mónica Castresana, Daniel Bachiller, José María Martín-Fernández, Antoni Gayá, Sara Vallejo-Diez, Almudena Sánchez-Gilabert
Publikováno v:
Stem Cell Research, Vol 47, Iss, Pp 101918-(2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
A 32 base pair deletion in the C-C chemokine receptor type gene (CCR5-Delta 32), the main Human Immunodeficiency Virus (HIV) co-receptor results in a non-functional protein. Individuals homozygous for the CCR5-Delta 32 mutation are resistant to HIV i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a957aca1b3f8dd0efb2a869e52333efd
https://hdl.handle.net/20.500.13003/17240
https://hdl.handle.net/20.500.13003/17240
Autor:
Mónica Castresana, Aarne Fleischer, Carmelo Gómez-Martínez, Sara Vallejo-Diez, Daniel Bachiller, José María Martín-Fernández, Almudena Sánchez-Gilabert
Publikováno v:
Stem Cell Research, Vol 47, Iss, Pp 101917-(2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Digital.CSIC. Repositorio Institucional del CSIC
instname
Psoriasis is a chronic inflammatory skin disease that speeds up the life cycle of skin cells, forming scales and red patches that are itchy and sometimes painful. It is a complex disease of autoimmune origin and genetic predisposition with more than
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53570a4e200296de3a3923fe52957d4e
http://www.sciencedirect.com/science/article/pii/S187350612030218X
http://www.sciencedirect.com/science/article/pii/S187350612030218X