Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Jose Carlos Segovia"'
Autor:
Sara Fañanas-Baquero, Matías Morín, Sergio Fernández, Isabel Ojeda-Perez, Mercedes Dessy-Rodriguez, Miruna Giurgiu, Juan A. Bueren, Miguel Angel Moreno-Pelayo, Jose Carlos Segovia, Oscar Quintana-Bustamante
Publikováno v:
Frontiers in Genome Editing, Vol 5 (2023)
Pyruvate kinase deficiency (PKD) is an autosomal recessive disorder caused by mutations in the PKLR gene. PKD-erythroid cells suffer from an energy imbalance caused by a reduction of erythroid pyruvate kinase (RPK) enzyme activity. PKD is associated
Externí odkaz:
https://doaj.org/article/9304ddc2d19f4b5a87e0230bce6ecc47
Autor:
Sara Fañanas-Baquero, Israel Orman, Federico Becerra Aparicio, Silvia Bermudez de Miguel, Jordi Garcia Merino, Rosa Yañez, Yolanda Fernandez Sainz, Rebeca Sánchez, Mercedes Dessy-Rodríguez, Omaira Alberquilla, David Alfaro, Agustin Zapata, Juan A. Bueren, Jose Carlos Segovia, Oscar Quintana-Bustamante
Publikováno v:
Haematologica, Vol 106, Iss 6 (2020)
Hematopoietic Stem and Progenitor Cells are crucial in the maintenance of lifelong production of all blood cells. These Stem Cells are highly regulated to maintain homeostasis through a delicate balance between quiescence, self-renewal and differenti
Externí odkaz:
https://doaj.org/article/f3b8c2051bd74849ae9d68ec02b52301
Autor:
Tamara J. Laskowski, Yasmine Van Caeneghem, Rasoul Pourebrahim, Chao Ma, Zhenya Ni, Zita Garate, Ana M. Crane, Xuan Shirley Li, Wei Liao, Manuel Gonzalez-Garay, Jose Carlos Segovia, David E. Paschon, Edward J. Rebar, Michael C. Holmes, Dan Kaufman, Bart Vandekerckhove, Brian R. Davis
Publikováno v:
Stem Cell Reports, Vol 7, Iss 2, Pp 139-148 (2016)
Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disease caused by mutations in the gene encoding the WAS protein (WASp). Here, induced pluripotent stem cells (iPSCs) were derived from a WAS patient (WAS-iPSC) and the endogenous
Externí odkaz:
https://doaj.org/article/676abc2202b146eb97e086edfc92f229
Autor:
Stephanie van Straaten, Marc Bierings, Paola Bianchi, Kensuke Akiyoshi, Hitoshi Kanno, Isabel Badell Serra, Jing Chen, Xiaohang Huang, Eduard van Beers, Supachai Ekwattanakit, Tayfun Güngör, Wijnanda Adriana Kors, Frans Smiers, Reinier Raymakers, Lucrecia Yanez, Julian Sevilla, Wouter van Solinge, Jose Carlos Segovia, Richard van Wijk
Publikováno v:
Haematologica, Vol 103, Iss 2 (2018)
Externí odkaz:
https://doaj.org/article/a1bb799c0c6748d08f56701f823ceb7e
Autor:
Daniel Lucas, Beatriz Escudero, José Manuel Ligos, Jose Carlos Segovia, Juan Camilo Estrada, Gloria Terrados, Luis Blanco, Enrique Samper, Antonio Bernad
Publikováno v:
PLoS Genetics, Vol 5, Iss 2, p e1000389 (2009)
Polymerase micro (Polmicro) is an error-prone, DNA-directed DNA polymerase that participates in non-homologous end-joining (NHEJ) repair. In vivo, Polmicro deficiency results in impaired Vkappa-Jkappa recombination and altered somatic hypermutation a
Externí odkaz:
https://doaj.org/article/449dadb1b58d4d0490936a7da5723273
Autor:
Oscar Quintana-Bustamante, Sara Fañanas-Baquero, Mercedes Dessy-Rodriguez, Isabel Ojeda-Pérez, Jose-Carlos Segovia
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
Today gene therapy is a real therapeutic option to address inherited hematological diseases that could be beneficial for thousands of patients worldwide. Currently, gene therapy is used to treat different monogenic hematological pathologies, includin
Externí odkaz:
https://doaj.org/article/2e056c10a4d246819134cb4c8f53c843
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
Autor:
Gonzalo Hernández, Lídia Romero-Cortadellas, Xènia Ferrer-Cortès, Veronica Venturi, Mercedes Dessy-Rodriguez, Mireia Olivella, Ammar Husami, Concepción Pérez De Soto, Rosario M. Morales-Camacho, Ana Villegas, Fernando-Ataulfo González-Fernández, Marta Morado, Theodosia A. Kalfa, Oscar Quintana-Bustamante, Santiago Pérez-Montero, Cristian Tornador, Jose-Carlos Segovia, Mayka Sánchez
Publikováno v:
Haematologica. 108:581-587
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8bb02f333463be79c28201694023364
https://doi.org/10.3324/haematol.2022.281277
https://doi.org/10.3324/haematol.2022.281277
Autor:
Susana Navarro, Sara Fañanas-Baquero, Michael Rothe, Isabel Ojeda-Perez, Rebeca Sanchez-Dominguez, Sergio López-Manzaneda, Virginia Nieto Romero, Oscar Quintana-Bustamante, Aída Garcia-Torralba, Andrea Molinos-Vicente, Jose-Carlos Segovia, Mariela Villanueva, Jonathan D. Schwartz, Eileen Nicoletti, Sonia Gutierrez, Juan A. Bueren, Omaira Alberquilla, María García-Bravo, Brian C. Beard, Juan C. Ramirez, Kenneth Law, Antonella L. Bastone
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss, Pp 350-359 (2021)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder caused by mutations in the PKLR gene. PKD is characterized by non-spherocytic hemolytic anemia of variable severity and may be fatal in some cases during early childhood. Althoug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8952906c293b2aaba5d002b91b3f7d14
http://www.sciencedirect.com/science/article/pii/S2329050121001236
http://www.sciencedirect.com/science/article/pii/S2329050121001236
Autor:
Gonzalo, Hernández, Lídia, Romero-Cortadellas, Xènia, Ferrer-Cortès, Veronica, Venturi, Mercedes, Dessy-Rodriguez, Mireia, Olivella, Ammar, Husami, Concepción Pérez, De Soto, Rosario M, Morales-Camacho, Ana, Villegas, Fernando-Ataulfo, González-Fernández, Marta, Morado, Theodosia A, Kalfa, Oscar, Quintana-Bustamante, Santiago, Pérez-Montero, Cristian, Tornador, Jose-Carlos, Segovia, Mayka, Sánchez
Publikováno v:
Haematologica.
Not available.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f793474af40862d70f60b9e005a2ed88
https://pubmed.ncbi.nlm.nih.gov/36200420
https://pubmed.ncbi.nlm.nih.gov/36200420
Autor:
Mariano García-Arranz, Juan A. Bueren, Miriam Hernando-Rodríguez, Jose-Carlos Segovia, Pablo Minguez, Rosa Yañez, Rosario Hervas-Salcedo, Damián García-Olmo, Marta Rodriguez de Alba, Victoria del Pozo, Carmen Ayuso, María L. Lamana, Oscar Quintana-Bustamante, María Fernández-García, Marcio Alvarez-Silva
Publikováno v:
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Stem Cell Research & Therapy, Vol 12, Iss 1, Pp 1-20 (2021)
Stem Cell Research & Therapy
instname
Stem Cell Research & Therapy, Vol 12, Iss 1, Pp 1-20 (2021)
Stem Cell Research & Therapy
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations
Background Mesenchymal stromal cells (MSCs) constitute one of the cell types most frequently used in cell therapy. Although sev
Background Mesenchymal stromal cells (MSCs) constitute one of the cell types most frequently used in cell therapy. Although sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4671aa6ba1d2c04049f25b2ecb96b6f0
https://doi.org/10.1186/s13287-021-02193-0
https://doi.org/10.1186/s13287-021-02193-0