المؤلفون: Martinez-Navajas, Gonzalo, Ceron-Hernandez, Jorge, Simon, Iris, Lupiañez, Pablo, Diaz-McLynn, Sofia, Perales, Sonia, Modlich, Ute, Guerrero, Jose A, Martin, Francisco, Sevivas, Teresa, Lozano, Maria L, Rivera, Jose, Ramos-Mejia, Veronica, Tersteeg, Claudia, Real, Pedro J

المصدر: Martinez-Navajas, Gonzalo; Ceron-Hernandez, Jorge; Simon, Iris; Lupiañez, Pablo; Diaz-McLynn, Sofia; Perales, Sonia; Modlich, Ute; Guerrero, Jose A; Martin, Francisco; Sevivas, Teresa; Lozano, Maria L; Rivera, Jose; Ramos-Mejia, Veronica; Tersteeg, Claudia; Real, Pedro J (2023). Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C. Molecular Therapy : Nucleic Acids, 33:75-92.

مصطلحات موضوعية: Institute for Regenerative Medicine (IREM), 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/234914/1/ZORA234914.pdfTest; info:pmid/37416759; urn:issn:2162-2531

الإتاحة: https://doi.org/10.5167/uzh-23491410.1016/j.omtn.2023.06.008Test
https://www.zora.uzh.ch/id/eprint/234914Test/
https://www.zora.uzh.ch/id/eprint/234914/1/ZORA234914.pdfTest

المؤلفون: Sanabria de la Torre, Raquel, Martínez Heredia, Luis, González Salvatierra, Sheila, Andújar Vera, Francisco Luis, Villa Suárez, Juan Miguel, Contreras Bolívar, Victoria, Corbacho Soto, Mario, Martínez Navajas, Gonzalo, Real Luna, Pedro José, García Fontana, Cristina, Muñoz Torres, Manuel Eduardo, García Fontana, Beatriz

مصطلحات موضوعية: Alkaline phosphatase, Bone, Hypophosphatasia, Mineralization, Genetic variant, Enzymatic activity, Pyridoxal 5' phosphate

العلاقة: Sanabria-de la Torre R. [et al.] (2022) Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia. Front. Endocrinol. 13:863940. doi: [10.3389/fendo.2022.863940]; http://hdl.handle.net/10481/75320Test

الإتاحة: https://doi.org/10.3389/fendo.2022.863940Test
http://hdl.handle.net/10481/75320Test

المؤلفون: Domingo Reinés, Joan, Martínez Navajas, Gonzalo, Montes, Rosa, Lamolda, Mar, Simón Sáez, Iris, Ríos Pelegrina, Rosa María, López Hidalgo, Javier Luis, García Del Moral Garrido, Raimundo, Marchal Corrales, Juan Antonio, Real Luna, Pedro José, Ramos Mejía, Verónica

مصطلحات موضوعية: Acute myeliod leukemia, Pediatric, Disease model, Human stem cell, Hematopoieisis

العلاقة: Domingo-Reinés J. [et al.] (2022) Generation of a H9 Clonal Cell Line With Inducible Expression of NUP98- KDM5A Fusion Gene in the AAVS1 Safe Harbor Locus. Front. Cell Dev. Biol. 10:846092. doi: [10.3389/fcell.2022.846092]; http://hdl.handle.net/10481/75851Test

الإتاحة: https://doi.org/10.3389/fcell.2022.846092Test
http://hdl.handle.net/10481/75851Test

المؤلفون: Contreras-Moreno, Francisco Javier, Muñoz-Dorado, José, García-Tomsig, Natalia Isabel, Martínez-Navajas, Gonzalo, Pérez, Juana, Moraleda-Muñoz, Aurelio

المساهمون: Ministerio de Economía, Industria y Competitividad, Gobierno de España

المصدر: Frontiers in Microbiology ; volume 11 ; ISSN 1664-302X

مصطلحات موضوعية: Microbiology (medical), Microbiology

الإتاحة: https://doi.org/10.3389/fmicb.2020.00094Test

المؤلفون: Lamolda, Mar, Montes, Rosa, Simón, Iris, Perales Romero, Sonia, Martínez Navajas, Gonzalo, López Onieva, Lourdes, Ríos Pelegrina, Rosa María, García Del Moral Garrido, Raimundo, Griñán Lisón, Carmen, Marchal Corrales, Juan Antonio, Lozano, María L., Ramos Mejía, Verónica, Rivera, José, Bastida, José M., Real, Pedro J.

العلاقة: Lamolda, M., Montes, R., Simón, I., Perales, S., Martínez-Navajas, G., Lopez-Onieva, L., . & Lozano, M. L. (2019). GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p. Thr196Ala variant. Stem cell research, 41, 101603.; http://hdl.handle.net/10481/59102Test

الإتاحة: https://doi.org/10.1016/j.scr.2019.101603Test
http://hdl.handle.net/10481/59102Test

المؤلفون: García Fontana, Cristina, Villa Suárez, Juan M., Andujar Vera, Francisco, González Salvatierra, Sheila, Martínez Navajas, Gonzalo, Real, Pedro J., Gómez Vida, José María, de Haro, Tomas, García Fontana, Beatriz, Muñoz Torres, Manuel Eduardo

العلاقة: García-Fontana, C., Villa-Suárez, J. M., Andújar-Vera, F., González-Salvatierra, S., Martínez-Navajas, G., Real, P. J., . & Muñoz-Torres, M. (2019). epidemiological, Clinical and Genetic study of Hypophosphatasia in A spanish population: Identification of Two Novel Mutations in the Alpl Gene. Scientific reports, 9(1), 9569.; http://hdl.handle.net/10481/57335Test

الإتاحة: https://doi.org/10.1038/s41598-019-46004-2Test
http://hdl.handle.net/10481/57335Test

المؤلفون: Martínez Navajas, Gonzalo

المساهمون: Real Luna, Pedro José, Universidad de Granada. Programa de Doctorado en Biomedicina

وصف الملف: application/pdf

العلاقة: Martínez Navajas, Gonzalo. Development of gene-therapy tools for bernard-soulier syndrome type c treatment. Granada: Universidad de Granada, 2023. [https://hdl.handle.net/10481/84671Test]; https://hdl.handle.net/10481/84671Test

الإتاحة: https://hdl.handle.net/10481/84671Test

المؤلفون: Sanabria-de la Torre, Raquel, Martínez-Heredia, Luis, González-Salvatierra, Sheila, Andújar-Vera, Francisco, Iglesias-Baena, Iván, Villa-Suárez, Juan Miguel, Contreras-Bolívar, Victoria, Corbacho-Soto, Mario, Martínez-Navajas, Gonzalo, Real, Pedro J., García-Fontana, Cristina, Muñoz-Torres, Manuel, García-Fontana, Beatriz

المصدر: Frontiers in Endocrinology; 4/14/2022, Vol. 13, p1-12, 12p

مصطلحات موضوعية: GENETIC variation, HYPOPHOSPHATASIA, GENETIC mutation, PHOSPHOPROTEIN phosphatases, ALKALINE phosphatase, OSTEITIS deformans