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Page 1
Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.
Ramírez MJ, Pujol R, Trujillo-Quintero JP, Minguillón J, Bogliolo M, Río P, Navarro S, Casado JA, Badell I, Carrasco E, Balmaña J, Català A, Sevilla J, Beléndez C, Argilés B, López M, Díaz de Heredia C, Rao G, Nicoletti E, Schwartz JD, Bueren JA, Surrallés J. Ramírez MJ, et al. Among authors: minguillon j. Am J Hematol. 2021 Aug 1;96(8):989-999. doi: 10.1002/ajh.26234. Epub 2021 May 25. Am J Hematol. 2021. PMID: 33984160 Free article.
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillón J, Ramírez MJ, Pujol R, Casado JA, Baños R, Rio P, Knies K, Zúñiga S, Benítez J, Bueren JA, Jaspers NG, Schärer OD, de Winter JP, Schindler D, Surrallés J. Bogliolo M, et al. Among authors: minguillon j. Am J Hum Genet. 2013 May 2;92(5):800-6. doi: 10.1016/j.ajhg.2013.04.002. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623386 Free PMC article.
Chromosome fragility in the buccal epithelium in patients with Fanconi anemia.
Ramírez MJ, Minguillón J, Loveless S, Lake K, Carrasco E, Stjepanovic N, Balmaña J, Català A, Mehta PA, Surrallés J. Ramírez MJ, et al. Among authors: minguillon j. Cancer Lett. 2020 Mar 1;472:1-7. doi: 10.1016/j.canlet.2019.12.008. Epub 2019 Dec 10. Cancer Lett. 2020. PMID: 31830560
Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia.
Casado JA, Valeri A, Sanchez-Domínguez R, Vela P, López A, Navarro S, Alberquilla O, Hanenberg H, Pujol R, Segovia JC, Minguillón J, Surrallés J, de Heredia CD, Sevilla J, Rio P, Bueren JA. Casado JA, et al. Among authors: minguillon j. J Clin Invest. 2022 Aug 1;132(15):e142842. doi: 10.1172/JCI142842. J Clin Invest. 2022. PMID: 35671096 Free PMC article.
Fanconi-like anemia related to a FANCM mutation.
Encarnación JA, Cerezuela P, Español I, García MR, Manso C, De la Fuente I, Garrigós N, Viney A, Minguillon J, Surrallés J. Encarnación JA, et al. Among authors: minguillon j. Eur J Med Genet. 2022 Jan;65(1):104399. doi: 10.1016/j.ejmg.2021.104399. Epub 2021 Nov 15. Eur J Med Genet. 2022. PMID: 34793962
Epigenetic Alterations in Fanconi Anaemia: Role in Pathophysiology and Therapeutic Potential.
Belo H, Silva G, Cardoso BA, Porto B, Minguillon J, Barbot J, Coutinho J, Casado JA, Benedito M, Saturnino H, Costa E, Bueren JA, Surralles J, Almeida A. Belo H, et al. Among authors: minguillon j. PLoS One. 2015 Oct 14;10(10):e0139740. doi: 10.1371/journal.pone.0139740. eCollection 2015. PLoS One. 2015. PMID: 26466379 Free PMC article.
Gefitinib and Afatinib Show Potential Efficacy for Fanconi Anemia-Related Head and Neck Cancer.
Montanuy H, Martínez-Barriocanal Á, Antonio Casado J, Rovirosa L, Ramírez MJ, Nieto R, Carrascoso-Rubio C, Riera P, González A, Lerma E, Lasa A, Carreras-Puigvert J, Helleday T, Bueren JA, Arango D, Minguillón J, Surrallés J. Montanuy H, et al. Among authors: minguillon j. Clin Cancer Res. 2020 Jun 15;26(12):3044-3057. doi: 10.1158/1078-0432.CCR-19-1625. Epub 2020 Jan 31. Clin Cancer Res. 2020. PMID: 32005748 Free article.
High content drug screening for Fanconi anemia therapeutics.
Montanuy H, Camps-Fajol C, Carreras-Puigvert J, Häggblad M, Lundgren B, Aza-Carmona M, Helleday T, Minguillón J, Surrallés J. Montanuy H, et al. Among authors: minguillon j. Orphanet J Rare Dis. 2020 Jun 30;15(1):170. doi: 10.1186/s13023-020-01437-1. Orphanet J Rare Dis. 2020. PMID: 32605631 Free PMC article.
Development of a mouse model for spontaneous oral squamous cell carcinoma in Fanconi anemia.
Errazquin R, Page A, Suñol A, Segrelles C, Carrasco E, Peral J, Garrido-Aranda A, Del Marro S, Ortiz J, Lorz C, Minguillon J, Surralles J, Belendez C, Alvarez M, Balmaña J, Bravo A, Ramirez A, Garcia-Escudero R. Errazquin R, et al. Among authors: minguillon j. Oral Oncol. 2022 Nov;134:106184. doi: 10.1016/j.oraloncology.2022.106184. Epub 2022 Sep 30. Oral Oncol. 2022. PMID: 36191479 Free article.
36 results