Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Brian C. Beard"'
Autor:
Susana Navarro, Oscar Quintana-Bustamante, Rebeca Sanchez-Dominguez, Sergio Lopez-Manzaneda, Isabel Ojeda-Perez, Aida Garcia-Torralba, Omaira Alberquilla, Kenneth Law, Brian C. Beard, Antonella Bastone, Michael Rothe, Mariela Villanueva, Juan C. Ramirez, Sara Fañanas-Baquero, Virginia Nieto-Romero, Andrea Molinos-Vicente, Sonia Gutierrez, Eileen Nicoletti, María García-Bravo, Juan A. Bueren, Jonathan D. Schwartz, Jose-Carlos Segovia
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss , Pp 350-359 (2021)
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://doaj.org/article/520b1bb80d5c442ebaab57f472bd9735
Publikováno v:
Viruses, Vol 4, Iss 12, Pp 3572-3588 (2012)
Foamy virus (FV) vectors have shown great promise for hematopoietic stem cell (HSC) gene therapy. Their ability to efficiently deliver transgenes to multi-lineage long-term repopulating cells in large animal models suggests they will be effective for
Externí odkaz:
https://doaj.org/article/be0a21789d0748dba2a495fad10b711f
Correction: Stem Cell Selection In Vivo Using Foamy Vectors Cures Canine Pyruvate Kinase Deficiency.
Autor:
Grant D. Trobridge, Brian C. Beard, Robert A. Wu, Christina Ironside, Punam Malik, Hans-Peter Kiem
Publikováno v:
PLoS ONE, Vol 8, Iss 10 (2013)
Externí odkaz:
https://doaj.org/article/e32a0f5314b740b29e9c2aa08a6b83d4
Autor:
Hans-Peter Kiem, Paritha I Arumugam, Christopher R Burtner, Catherine F Fox, Brian C Beard, Phillip Dexheimer, Jennifer E Adair, Punam Malik
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 1, Iss C (2014)
Safely achieving long-term engraftment of genetically modified hematopoietic stem cells (HSCs) that maintain therapeutic transgene expression is the benchmark for successful application of gene therapy for hemoglobinopathies. We used the pigtailed ma
Externí odkaz:
https://doaj.org/article/b46866ce35c945febe5e04935167b2b3
Autor:
Susana Navarro, Gayatri R Rao, Camilla Duran-Persson, Maria Grazia Roncarolo, Josune Zubicaray, Philip Ancliff, John E. Wagner, Julián Sevilla, Brian C. Beard, Jonathan D. Schwartz, Rajni Agarwal, Claire Booth, Miriam Zeini, Elena Sebastián, Grace Choi, Kenneth Law, Juan A. Bueren, Paula Río, Adrian J. Thrasher, Agnieszka Czechowicz, Eileen Nicoletti
Publikováno v:
Blood. 138:3968-3968
Background: Fanconi anemia (FA) is a disorder of defective deoxyribonucleic acid (DNA) repair, progressive bone marrow failure (BMF), and a predisposition to hematologic malignancies and solid tumors. Approximately 60 to 70% of all cases result from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae173e5f4a6caa5034b030200c2d18dc
https://doi.org/10.1182/blood-2021-147071
https://doi.org/10.1182/blood-2021-147071
Autor:
Eileen Nicoletti, Bert Glader, Grace Choi, Maria Grazia Roncarolo, Sol Sanchez, Juan A. Bueren, Begoña Pérez de Camino Gaisse, Brian C. Beard, José C. Segovia, Ami J. Shah, Susana Navarro, Oscar Quintana Bustamante, Lucía Llanos, Julián Sevilla, Kenneth Law, Gayatri R Rao, Miriam Zeini, Jose Luis Lopez Lorenzo, Jonathan D. Schwartz, May Chien
Publikováno v:
Blood. 138:563-563
Background: Pyruvate kinase deficiency (PKD) is a rare inherited hemolytic anemia caused by mutations in the PKLR gene resulting in decreased red cell pyruvate kinase activity and impaired erythrocyte metabolism. Manifestations include anemia, reticu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5d6df8e462ce0cbab4f915dd187f835d
https://doi.org/10.1182/blood-2021-148161
https://doi.org/10.1182/blood-2021-148161
Autor:
Elena Almarza, Brian C. Beard, Theodore B. Moore, Gayatri R Rao, Claire Booth, Kenneth Law, Donald B. Kohn, Satiro N. De Oliveira, Jonathan D. Schwartz, Juan A. Bueren, Caroline Y. Kuo, Eileen Nicoletti, Adrian J. Thrasher, Miriam Zeini, Augustine Fernandes, Grace Choi, Cristina Mesa-Núñez, Dayna Terrazas, Julián Sevilla
Publikováno v:
Blood. 138:2932-2932
Background: Leukocyte Adhesion Deficiency-I (LAD-I) is a rare disorder of neutrophil adhesion resulting from ITGB2 mutations encoding for the β2-integrin component, CD18. Severe LAD-I (CD18 Methods: Pediatric patients ≥ 3 months old with severe LA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db6471738fe605e2ed22270803c3622c
https://doi.org/10.1182/blood-2021-151898
https://doi.org/10.1182/blood-2021-151898
Autor:
Elena Almarza, Dayna Terrazas, Donald B. Kohn, Juan A. Bueren, Julián Sevilla, Theodore B. Moore, Brian C. Beard, Cristina Mesa-Núñez, Eileen Nicoletti, Caroline Y. Kuo, Kenneth Law, Augustine Fernandes, Jonathan D. Schwartz, Gayatri R Rao, Satiro N. De Oliveira
Publikováno v:
Blood. 136:15-15
Introduction: LAD-I is a rare inherited disorder of leukocyte (primarily neutrophil) adhesion to endothelial cell surfaces, migration, and chemotaxis resulting from ITGB2 gene mutations encoding for the β2-integrin component, CD18. Severe LAD-I (i.e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbaf654ad01900112e2f8813d477a85c
https://doi.org/10.1182/blood-2020-142484
https://doi.org/10.1182/blood-2020-142484
Autor:
José C. Segovia, Julián Sevilla, Susana Navarro, Gayatri R Rao, Miriam Zeini, Eileen Nicoletti, Jose Luis Lopez Lorenzo, Oscar Quintana Bustamante, Brian C. Beard, Sol Sanchez, Lucía Llanos, Begoña Pérez Camino de Gaisse, Juan A. Bueren, Grace Choi, Ami J. Shah, Maria Grazia Roncarolo, Jonathan D. Schwartz, May Chien, Bertil Glader, Kenneth Law
Publikováno v:
Blood. 136:47-47
Introduction: Pyruvate Kinase Deficiency (PKD) is a rare inherited hemolytic anemia that is caused by mutations in the PKLR gene leading to decreased red cell pyruvate kinase (RPK) activity and impaired erythrocyte metabolism. The disorder is charact
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::838aa0e2ffdb12d95e44047b65f08892
https://doi.org/10.1182/blood-2020-137246
https://doi.org/10.1182/blood-2020-137246
Autor:
Julián Sevilla, Maria Grazia Roncarolo, Miriam Zeini, Kenneth Law, Brian C. Beard, Agnieszka Czechowicz, John E. Wagner, Jonathan D. Schwartz, Susana Navarro, Claire Booth, Juan A. Bueren, Paula Río, Eileen Nicoletti, Grace Choi, Rajni Agarwal
Publikováno v:
Blood. 136:14-14
Background: Fanconi anemia (FA) is a rare inherited disorder of defective cellular deoxyribonucleic acid (DNA) repair, associated with developmental abnormalities and characterized by progressive bone marrow failure (BMF) and a predisposition to hema
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::842a149bf6e1f2e885fdcdfd527d5b12
https://doi.org/10.1182/blood-2020-137106
https://doi.org/10.1182/blood-2020-137106