Casado JA - Search Results

1

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Catalá A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J, Surralles J. Bogliolo M, et al. Among authors: casado ja. J Med Genet. 2020 Apr;57(4):258-268. doi: 10.1136/jmedgenet-2019-106249. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586946

2

Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients.

Callén E, Tischkowitz MD, Creus A, Marcos R, Bueren JA, Casado JA, Mathew CG, Surrallés J. Callén E, et al. Among authors: casado ja. Cytogenet Genome Res. 2004;104(1-4):341-5. doi: 10.1159/000077513. Cytogenet Genome Res. 2004. PMID: 15162062

3

Jun N-terminal kinase activity and early growth-response factor-1 gene expression are down-regulated in Fanconi anemia group A lymphoblasts.

Pipaon C, Casado JA, Bueren JA, Fernandez-Luna JL. Pipaon C, et al. Among authors: casado ja. Blood. 2004 Jan 1;103(1):128-32. doi: 10.1182/blood-2003-06-2091. Epub 2003 Sep 4. Blood. 2004. PMID: 12958075 Free article.

4

Elevated levels of IL-1beta in Fanconi anaemia group A patients due to a constitutively active phosphoinositide 3-kinase-Akt pathway are capable of promoting tumour cell proliferation.

Ibáñez A, Río P, Casado JA, Bueren JA, Fernández-Luna JL, Pipaón C. Ibáñez A, et al. Among authors: casado ja. Biochem J. 2009 Jul 29;422(1):161-70. doi: 10.1042/BJ20082118. Biochem J. 2009. PMID: 19473116

5

Detectable clonal mosaicism in blood as a biomarker of cancer risk in Fanconi anemia.

Reina-Castillón J, Pujol R, López-Sánchez M, Rodríguez-Santiago B, Aza-Carmona M, González JR, Casado JA, Bueren JA, Sevilla J, Badel I, Català A, Beléndez C, Dasí MÁ, Díaz de Heredia C, Soulier J, Schindler D, Pérez-Jurado LA, Surrallés J. Reina-Castillón J, et al. Among authors: casado ja. Blood Adv. 2017 Jan 23;1(5):319-329. doi: 10.1182/bloodadvances.2016000943. eCollection 2017 Jan 24. Blood Adv. 2017. PMID: 29296947 Free PMC article.

6

Generating New FANCA-Deficient HNSCC Cell Lines by Genomic Editing Recapitulates the Cellular Phenotypes of Fanconi Anemia.

Errazquin R, Sieiro E, Moreno P, Ramirez MJ, Lorz C, Peral J, Ortiz J, Casado JA, Roman-Rodriguez FJ, Hanenberg H, Río P, Surralles J, Segrelles C, Garcia-Escudero R. Errazquin R, et al. Among authors: casado ja. Genes (Basel). 2021 Apr 9;12(4):548. doi: 10.3390/genes12040548. Genes (Basel). 2021. PMID: 33918752 Free PMC article.

7

In vitro phenotypic correction of hematopoietic progenitors from Fanconi anemia group A knockout mice.

Río P, Segovia JC, Hanenberg H, Casado JA, Martínez J, Göttsche K, Cheng NC, Van de Vrugt HJ, Arwert F, Joenje H, Bueren JA. Río P, et al. Among authors: casado ja. Blood. 2002 Sep 15;100(6):2032-9. Blood. 2002. PMID: 12200363 Free article.

8

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.

9

A simplified approach to improve the efficiency and safety of ex vivo hematopoietic gene therapy in fanconi anemia patients.

Jacome A, Navarro S, Casado JA, Rio P, Madero L, Estella J, Sevilla J, Badell I, Ortega JJ, Olivé T, Hanenberg H, Segovia JC, Bueren JA. Jacome A, et al. Among authors: casado ja. Hum Gene Ther. 2006 Feb;17(2):245-50. doi: 10.1089/hum.2006.17.245. Hum Gene Ther. 2006. PMID: 16454658

10

Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Río P, Zubicaray J, Navarro S, Gálvez E, Sánchez-Domínguez R, Nicoletti E, Sebastián E, Rothe M, Pujol R, Bogliolo M, John-Neek P, Bastone AL, Schambach A, Wang W, Schmidt M, Larcher L, Segovia JC, Yáñez RM, Alberquilla O, Díez B, Fernández-García M, García-García L, Ramírez M, Galy A, Lefrere F, Cavazzana M, Leblanc T, García de Andoin N, López-Almaraz R, Catalá A, Barquinero J, Rodríguez-Perales S, Rao G, Surrallés J, Soulier J, Díaz-de-Heredia C, Schwartz JD, Sevilla J, Bueren JA; FANCOLEN-1 gene therapy investigators. Río P, et al. Lancet. 2025 Dec 21;404(10471):2584-2592. doi: 10.1016/S0140-6736(24)01880-4. Epub 2024 Dec 3. Lancet. 2025. PMID: 39642902 Clinical Trial.

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