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Year Number of Results
2011 2
2012 1
2013 2
2017 3
2018 6
2019 5
2020 2
2021 4
2022 3
2023 1
2024 1

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26 results

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Page 1
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, Estella J, Dasí A, Rodríguez-Villa A, Gómez P, Barbot J, Tapia M, Molinés A, Figuera A, Bueren JA, Surrallés J. Castella M, et al. Among authors: pujol r. Blood. 2011 Apr 7;117(14):3759-69. doi: 10.1182/blood-2010-08-299917. Epub 2011 Jan 27. Blood. 2011. PMID: 21273304 Free PMC article.
Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia.
Lasaga M, Río P, Vilas-Zornoza A, Planell N, Navarro S, Alignani D, Fernández-Varas B, Mouzo D, Zubicaray J, Pujol RM, Nicoletti E, Schwartz JD, Sevilla J, Ainciburi M, Ullate-Agote A, Surrallés J, Perona R, Sastre L, Prosper F, Gomez-Cabrero D, Bueren JA. Lasaga M, et al. Among authors: pujol rm. Haematologica. 2023 Oct 1;108(10):2652-2663. doi: 10.3324/haematol.2022.282418. Haematologica. 2023. PMID: 37021532 Free PMC article.
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.
Clinical consequences of BRCA2 hypomorphism.
Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, Bogliolo M, Carrasco E, Aza-Carmona M, Montalban G, Muñoz-Subirana N, Pujol R, Cruz C, Llop-Guevara A, Ramírez MJ, Saura C, Lasa A, Serra V, Diez O, Balmaña J, Surrallés J. Castells-Roca L, et al. Among authors: pujol r. NPJ Breast Cancer. 2021 Sep 9;7(1):117. doi: 10.1038/s41523-021-00322-9. NPJ Breast Cancer. 2021. PMID: 34504103 Free PMC article.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene; Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: pujol r. Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057030 Free PMC article.
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: pujol r. J Clin Invest. 2022 Aug 1;132(15):e142842. doi: 10.1172/JCI142842. J Clin Invest. 2022. PMID: 35671096 Free PMC article.
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.
Hernández G, Ramírez MJ, Minguillón J, Quiles P, Ruiz de Garibay G, Aza-Carmona M, Bogliolo M, Pujol R, Prados-Carvajal R, Fernández J, García N, López A, Gutiérrez-Enríquez S, Diez O, Benítez J, Salinas M, Teulé A, Brunet J, Radice P, Peterlongo P, Schindler D, Huertas P, Puente XS, Lázaro C, Pujana MÀ, Surrallés J. Hernández G, et al. Among authors: pujol r. Nat Commun. 2018 Mar 6;9(1):967. doi: 10.1038/s41467-018-03433-3. Nat Commun. 2018. PMID: 29511213 Free PMC article.
On the role of FAN1 in Fanconi anemia.
Trujillo JP, Mina LB, Pujol R, Bogliolo M, Andrieux J, Holder M, Schuster B, Schindler D, Surrallés J. Trujillo JP, et al. Among authors: pujol r. Blood. 2012 Jul 5;120(1):86-9. doi: 10.1182/blood-2012-04-420604. Epub 2012 May 18. Blood. 2012. PMID: 22611161 Free article.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene; Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: pujol r. Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. Am J Hum Genet. 2018. PMID: 30193137 Free PMC article. No abstract available.
CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival.
Minguillón J, Ramírez MJ, Rovirosa L, Bustamante-Madrid P, Camps-Fajol C, Ruiz de Garibay G, Shimelis H, Montanuy H, Pujol R, Hernandez G, Bogliolo M, Castillo P, Soucy P, Martrat G, Gómez A, Cuadras D, García MJ, Gayarre J, Cimba, Lázaro C, Benítez J, Couch FJ, Pujana MA, Surrallés J. Minguillón J, et al. Among authors: pujol r. Cancers (Basel). 2022 Jan 12;14(2):353. doi: 10.3390/cancers14020353. Cancers (Basel). 2022. PMID: 35053516 Free PMC article.
26 results