Molecular Biology & Genetics
Listando 12 trabajos del autor/autora 38
Lista de trabajos en el área Molecular Biology & Genetics
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147
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21
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Article
Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia
Rio, Paula; Navarro, Susana; Wang, Wei; Sanchez-Dominguez, Rebeca; Pujol, Roser M.; Segovia, Jose C.; Bogliolo, Massimo; Merino, Eva; Wu, Ning; Salgado, Rocio; Lamana, Maria L.; Yanez, Rosa M.; Casado, Jose A.; Gimenez, Yari; Roman-Rodriguez, Francisco J.;
NATURE MEDICINE
1078-8956 (2019)
DOI /
10.1038/s41591-019-0550-z
Mentions
4
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0
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23
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0
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Article
Combination of chemotherapy with BRAF inhibitors results in effective eradication of malignant melanoma by preventing ATM-dependent DNA repair
Alonso-Maranon, Josune; Villanueva, Alberto; Piulats, Josep Maria; Martinez-Iniesta, Maria; Sole, Laura; Martin-Liberal, Juan; Segura, Sonia; Pujol, Ramon M.; Iglesias, MAR; Bigas, Anna; Gallardo, Fernando; Espinosa, Lluis
ONCOGENE
0950-9232 (2021)
DOI /
10.1038/s41388-021-01879-2
Mentions
29
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1
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13
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0
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Article
Biallelic truncating &ITFANCM&IT mutations cause early-onset cancer but not Fanconi anemia
Bogliolo, Massimo; Bluteau, Dominique; Lespinasse, James; Pujol, Roser; Vasquez, Nadia; d'Enghien, Catherine Dubois; Stoppa-Lyonnet, Dominique; Leblanc, Thierry; Soulier, Jean; Surralles, Jordi
GENETICS IN MEDICINE
1098-3600 (2018)
DOI /
10.1038/gim.2017.124
Mentions
11
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1
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10
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Individuals with &ITFANCM&IT biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Catucci, Irene; Osorio, Ana; Arver, Brita; Neidhardt, Guido; Bogliolo, Massimo; Zanardi, Federica; Riboni, Mirko; Minardi, Simone; Pujol, Roser; Azzollini, Jacopo; Peissel, Bernard; Manoukian, Siranoush; De Vecchi, Giovanna; Casola, Stefano; Hauke, Jan; Ri
GENETICS IN MEDICINE
1098-3600 (2018)
DOI /
10.1038/gim.2017.123
Bronze
Mentions
53
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2
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5
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Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
Hernandez, Gonzalo; Jose Ramirez, Maria; Minguillon, Jordi; Quiles, Paco; Ruiz de Garibay, Gorka; Aza-Carmona, Miriam; Bogliolo, Massimo; Pujol, Roser; Prados-Carvajal, Rosario; Fernandez, Juana; Garcia, Nadia; Lopez, Adria; Gutierrez-Enriquez, Sara; Diez,
NATURE COMMUNICATIONS
(2018)
DOI /
10.1038/s41467-018-03433-3
Gold, Green published
Mentions
43
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2
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3
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0
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Article
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Martin, Carol-Anne; Sarlos, Kata; Logan, Clare V.; Thakur, Roshan Singh; Parry, David A.; Bizard, Anna H.; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A.; Allen, William; Altmueller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A.
AMERICAN JOURNAL OF HUMAN GENETICS
0002-9297 (2018)
DOI /
10.1016/j.ajhg.2018.07.001
Green published, Green accepted, Gold other
Mentions
16
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0
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0
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From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia
Krausz, Csilla; Riera-Escamilla, Antoni; Chianese, Chiara; Moreno-Mendoza, Daniel; Ars, Elisabet; Rajmil, Osvaldo; Pujol, Roser; Bogliolo, Massimo; Blanco, Ignacio; Rodriguez, Ines; Badell, Isabel; Ruiz-Castane, Eduard; Surralles, Jordi
GENETICS IN MEDICINE
1098-3600 (2019)
DOI /
10.1038/s41436-018-0037-1
Green published
Mentions
3
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0
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0
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Transcriptome and cytogenetic profiling analysis of matched in situ/invasive cutaneous squamous cell carcinomas from immunocompetent patients
Garcia-Diez, Irene; Hernandez-Munoz, Inmaculada; Hernandez-Ruiz, Eugenia; Nonell, Lara; Puigdecanet, Eulalia; Bodalo-Torruella, Marta; Andrades, Evelyn; Pujol, Ramon M.; Toll, Agusti
GENES CHROMOSOMES & CANCER
1045-2257 (2019)
DOI /
10.1002/gcc.22712
Mentions
5
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0
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0
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0
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TALEN mediated gene editing in a mouse model of Fanconi anemia
Jose Pino-Barrio, Maria; Gimenez, Yari; Villanueva, Mariela; Hildenbeutel, Marcus; Sanchez-Dominguez, Rebeca; Rodriguez-Perales, Sandra; Pujol, Roser; Surralles, Jordi; Rio, Paula; Cathomen, Toni; Mussolino, Claudio; Antonio Bueren, Juan; Navarro, Susana
SCIENTIFIC REPORTS
2045-2322 (2020)
DOI /
10.1038/s41598-020-63971-z
Gold DOAJ, Green published
Mentions
2
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Inefficient differentiation response to cell cycle stress leads to genomic instability and malignant progression of squamous carcinoma cells
Alonso-Lecue, Pilar; de Pedro, Isabel; Coulon, Vincent; Molinuevo, Rut; Lorz, Corina; Segrelles, Carmen; Ceballos, Laura; Lopez-Aventin, Daniel; Garcia-Valtuille, Ana; Bernal, Jose M.; Mazorra, Francisco; Pujol, Ramon M.; Paramio, Jesus; Sanz, J. Ramon; Fr
CELL DEATH & DISEASE
2041-4889 (2017)
DOI /
10.1038/cddis.2017.259
Green published, Green submitted, Gold
Mentions
5
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Epigenetic Silencing of Tumor Suppressor miR-124 Directly Supports STAT3 Activation in Cutaneous T-Cell Lymphoma
Garcia-Colmenero, Lidia; Gonzalez, Jessica; Sandoval, Juan; Guillen, Yolanda; Diaz-Lagares, Angel; Andrades, Evelyn; Iglesias, Arnau; Nonell, Lara; Maria Pujol, Ramon; Bigas, Anna; Espinosa, Lluis; Gallardo, Fernando
CELLS
(2020)
DOI /
10.3390/cells9122692
Green published, Gold
Mentions
1
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0
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Molecular characterisation of oncogenic urothelial mosaic mutations in patients with extensive keratinocytic epidermal naevi
Gadea, Alejandra; Hernandez-Munoz, Inmaculada; Vicente, Asuncion; Andrades, Evelyn; Garcia-Calvente, Miriam; Camacho, Laura; Fernandez-Rodriguez, Conchi; Bellosillo, Beatriz; Pujol, Ramon; Toll, Agustin
JOURNAL OF MEDICAL GENETICS
0022-2593 (2020)
DOI /
10.1136/jmedgenet-2019-106296