Molecular Biology & Genetics
Listando 13 trabajos del autor/autora 38
Lista de trabajos en el área Molecular Biology & Genetics
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147
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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
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
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131
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0
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1
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NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia
Jose Roman-Rodriguez, Francisco; Ugalde, Laura; Alvarez, Lara; Diez, Begona; Jose Ramirez, Maria; Risueno, Cristina; Corton, Marta; Bogliolo, Massimo; Bernal, Sara; March, Francesca; Ayuso, Carmen; Hanenberg, Helmut; Sevilla, Julian; Rodriguez-Perales, San
CELL STEM CELL
1934-5909 (2019)
DOI /
10.1016/j.stem.2019.08.016
Bronze
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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Article
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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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
26
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0
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Generating New FANCA-Deficient HNSCC Cell Lines by Genomic Editing Recapitulates the Cellular Phenotypes of Fanconi Anemia
Errazquin, Ricardo; Sieiro, Esther; Moreno, Pilar; Jose Ramirez, Maria; Lorz, Corina; Peral, Jorge; Ortiz, Jessica; Casado, Jose Antonio; Roman-Rodriguez, Francisco J.; Hanenberg, Helmut; Rio, Paula; Surralles, Jordi; Segrelles, Carmen; Garcia-Escudero, Ra
GENES
(2021)
DOI /
10.3390/genes12040548
Gold DOAJ
Mentions
16
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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
14
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0
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0
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FANCA Gene Mutations in North African Fanconi Anemia Patients
Ben Haj Ali, Abir; Messaoud, Olfa; Elouej, Sahar; Talmoudi, Faten; Ayed, Wiem; Mellouli, Fethi; Ouederni, Monia; Hadiji, Sondes; De Sandre-Giovannoli, Annachiara; Delague, Valerie; Levy, Nicolas; Bogliolo, Massimo; Surralles, Jordi; Abdelhak, Sonia; Amouri
FRONTIERS IN GENETICS
(2021)
DOI /
10.3389/fgene.2021.610050
Gold DOAJ, Green published
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14
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Fanconi-like anemia related to a FANCM mutation
Encarnacion, J. A.; Cerezuela, P.; Espanol, I; Garcia, M. R.; Manso, C.; de la Fuente, I; Garrigos, N.; Viney, A.; Minguillon, J.; Surralles, J.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
DOI /
10.1016/j.ejmg.2021.104399
Mentions
10
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Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders
Marin, Maria; Jose Ramirez, Maria; Carmona, Miriam Aza; Jia, Nan; Ogi, Tomoo; Bogliolo, Massimo; Surralles, Jordi
GENES
(2019)
DOI /
10.3390/genes10010060
Green submitted, Green published, Gold
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5
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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
1
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High content drug screening for Fanconi anemia therapeutics
Montanuy, Helena; Camps-Fajol, Cristina; Carreras-Puigvert, Jordi; Haggblad, Maria; Lundgren, BO; Aza-Carmona, Miriam; Helleday, Thomas; Minguillon, Jordi; Surralles, Jordi
ORPHANET JOURNAL OF RARE DISEASES
(2020)
DOI /
10.1186/s13023-020-01437-1
Gold, Green published
