Sant Pau - Institut de Recerca

El grup de recerca Síndromes d’Inestabilitat Genòmica i Reparació de l’ADN coordinat pel Dr. Jordi Surrallés, treballa en el camp de les malalties genètiques humanes, caracteritzades per una elevada predisposició al càncer.

Moltes d’aquestes síndromes són causades per mutacions en gens implicats en la reparació de l’ADN. Aquests gens són importants per evitar l’acumulació de mutacions i prevenir la transformació tumoral.

La investigació sobre aquestes síndromes és important per desentranyar els mecanismes que ens protegeixen del càncer.

En els últims anys, l’equip ha identificat i estudiat nous gens implicats en aquestes síndromes i ha realitzat investigacions terapèutiques que han conduït a la designació de medicaments orfes per part de l’Agència Europea del Medicament.

Els investigadors del grup també participen en diversos assaigs clínics sobre teràpia gènica i reposicionament de fàrmacs, i investiguen els gens de reparació de l’ADN implicats en aquestes síndromes com a blancs terapèutics contra el càncer en la població general.

Cada vegada hi ha noves estratègies terapèutiques basades en el coneixement profund de les causes genètiques de la malaltia. Per tant, un diagnòstic genètic adequat és important no només per proporcionar un bon assessorament genètic i seguiment clínic als pacients i les seves famílies, sinó també per proporcionar una medicina personalitzada basada en informació genòmica.

Línies principals de Recerca:

Genètica i biologia molecular de síndromes genètiques amb predisposició al càncer. Aquesta recerca es focalitza en el càncer de mama familiar i en l’anèmia de Fanconi.
Caracterització genètica dels pacients de anèmia de Fanconi i identificació de nous gens implicats en la malaltia i en la síndrome hereditària del càncer de mama.
Desenvolupament de noves eines diagnòstiques i terapèutiques en l’anèmia de Fanconi, incloent-hi la teràpia gènica, la medicina regenerativa i el reposicionament de fàrmacs.
Mecanismes d’inestabilidad genómica i predisposició al càncer. Estudi de la reparació d’ADN i conseqüències biològiques i clíniques del defecte en la reparació de l’ADN.
Ruta anèmia de Fanconi/BRCA en cáncer. Implicacions dels gens Fanconi en càncer i el seu ús com a blanc terapèutic contra el càncer.

Coordinació del grup

SURRALLES CALONGE, JORDI
jsurralles@santpau.cat

Membres

Agbo, Lynda Marie C. IR
Bogliolo, Massimo UAB
Camps Fajol, Cristina IR
Cavero Moreno, Debora IR
Lopez De Heredia, Miguel CIBERER
Marsal Olivan, Aina IR
Molina Romero, Ana UAB
Mora Rodriguez, Angel IR
Muñoz Pujol, Gerard IR
Ortega Aceituno, Jennifer Paola IR
Peiro Navarro, Montserrat UAB
Pujol Calvet, Roser CIBERER
Ramirez De Haro, Maria Jose CIBERER
Rodriguez Santiago, Benjamin FGS
Tejero Laguna, Eudald IR

Publicacions 2023

(JIF 2023)

-Collet R, Olmedo G, Ruiz I, Martinez A, Rodriguez B, Bernal S, Kulisevsky J, Pagonabarraga J. Late-Onset Beta-Propeller Protein-Associated Neurodegeneration: A Case Report. Movement Disorders Clinical Practice. 2023; 10(8). DOI:10.1002/mdc3.13811. PMID:37635772. IF:2,600 (Q2/5D). Document type: Article.

-Dobarro D, Donoso V, Sole E, Moliner C, Garcia JM, Lopez S, Ruiz S, Diez C, Castrodeza J, Mendez AB, Vaqueriza D, Cobo M, Tobar J, Sagasti I, Rodriguez M, Escolar V, Abecia A, Codina P, Gomez I, Pastor F, Marzoa R, Gonzalez E, de Juan J, Melendo M, de Frutos F, Gonzalez J. Intermittent inotropic support with levosimendan in advanced heart failure as destination therapy: The LEVO-D registry. ESC Heart Failure. 2023; 10(2). DOI:10.1002/ehf2.14278. PMID:36655614. IF:3,200 (Q2/4D). Document type: Article.

-Esmel R, Valenzuela I, Riaza L, Rodríguez B, Rosés F, Boronat S, Sabaté A. Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients. European Journal of Medical Genetics. 2023; 66(9):104823. DOI:10.1016/j.ejmg.2023.104823. PMID:37619836. IF:1,600 (Q3/8D). Document type: Article.

-Lasaga M, Río P, Vilas A, Planell N, Navarro S, Alignani D, Fernández B, Mouzo D, Zubicaray J, Pujol RM, Nicoletti E, Schwartz JD, Sevilla J, Ainciburi M, Ullate A, Surrallés J, Perona R, Sastre L, Prosper F, Gomez D, Bueren JA. Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia. HAEMATOLOGICA. 2023; 108(10). DOI:10.3324/haematol.2022.282418. PMID:37021532. IF:8,200 (Q1/2D). Document type: Article.

-Lee EM, Verma M, Palaniappan N, Pope EM, Lee S, Blacher L, Neerumalla P, An W, Campbell T, Brown C, Hurst S, Marshall B, Hershey T, Nunes V, de Heredia ML, Urano F. Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders. Frontiers in Genetics. 2023; 14:1198171. DOI:10.3389/fgene.2023.1198171. PMID:37415600. IF:2,800 (Q2/5D). Document type: Article.

-López D, Roldán G, Fernández JL, Bostelmann G, Carmona R, Aquino V, Perez J, Ortuño F, Pita G, Núñez R, González A, Alonso A, Salgado J, Pasalodos S, Ayuso C, Minguez P, Avila A, Corton M, Artuch R, Borrego S, Antiñolo G, Carracedo A, Amigo J, Castaño LA, Tejada I, Delmiro A, Espinos C, Grinberg D, Guillén E, Lapunzina P, Lopez JA, Gallego A, Martí R, Rovira E, Millán JM, Moreno MA, Morin M, Moreno A, Fernández M, Morte B, Mulero V, García D, Nunes V, Palau F, Perez B, Jurado LP, Perona R, Pujol A, Ramos F, Lopez E, Ribes A, Rosell J, Surrallés J, Peña M, Dopazo J, Crowdsourcing CSVS. A crowdsourcing database for the copy-number variation of the Spanish population. Human Genomics. 2023; 17(1):20. DOI:10.1186/s40246-023-00466-8. PMID:36894999. IF:3,800 (Q2/3D). Document type: Article.

-Persico I, Fontana G, Faleschini M, Zanchetta ME, Ammeti D, Cappelli E, Corsolini F, Mosa C, Guarina A, Bogliolo M, Surrallés J, Dufour C, Farruggia P, Savoia A, Bottega R. A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C & gt;G splicing mutation. Frontiers in Genetics. 2023; 14:1209138. DOI:10.3389/fgene.2023.1209138. PMID:37547463. IF:2,800 (Q2/5D). Document type: Article.

Publicacions 2022

(JIF 2022)

Alias L, de Heredia ML, Luna S, Cliville N, Gonzalez L, Gallano P, de Juan J, Pujol A, Diez S, Boronat S, Orus C, Lasa A, Venegas MD. Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness. Frontiers in Genetics. 2022; 13:1024742. DOI:10.3389/fgene.2022.998898. PMID:36330437. IF:3,7 (Q2/4D). Document type: Article.
Casado JA, Valeri A, Sanchez R, Vela P, Lopez A, Navarro S, Alberquilla O, Hanenberg H, Pujol R, Segovia JC, Minguillon J, Surralles J, de Heredia CD, Sevilla J, Rio P, Bueren JA. Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia. JOURNAL OF CLINICAL INVESTIGATION. 2022; 132(15):e142842. DOI:10.1172/JCI142842. PMID:35671096. IF:15,9 (Q1/1D). Document type: Article.
Cruz R, Diz S, de Heredia ML, Quintela I, Ceballos FC, Lorenzo GM, Gonzalez R, Gago M, Porras MS, Castano J, Nevado J, Aguado JM, Aguilar C, Aguilera S, Almadana V, Almoguera B, Alvarez N, Andreu A, Arana E, Arango C, Arranz MJ, Artiga MJ, Baptista RC, Barreda M, Belhassen M, Bezerra JF, Bezerra M, Boix L, Brion M, Brugada R, Bustos M, Calderon EJ, et al. [Martínez-Perez A, Soria JM, Souto JC, Fernández-Cadenas I]. Novel genes and sex differences in COVID-19 severity. HUMAN MOLECULAR GENETICS. 2022; 31(22). DOI:10.1093/hmg/ddac132. PMID:35708486. IF:3,5 (Q2/4D). Document type: Article.
Encarnacion JA, Cerezuela P, Espanol I, Garcia MR, Manso C, De la Fuente I, Garrigos N, Viney A, Minguillon J, Surralles J. Fanconi-like anemia related to a FANCM mutation. European Journal of Medical Genetics. 2022; 65(1):104399. DOI:10.1016/j.ejmg.2021.104399. PMID:34793962. IF:1,9 (Q4/8D). Document type: Article.
Errazquin R, Page A, Suñol A, Segrelles C, Carrasco E, Peral J, Garrido A, Del Marro S, Ortiz J, Lorz C, Minguillon J, Surralles J, Belendez C, Alvarez M, Balmaña J, Bravo A, Ramirez A, Garcia R. Development of a mouse model for spontaneous oral squamous cell carcinoma in Fanconi anemia. ORAL ONCOLOGY. 2022; 134:106184. DOI:10.1016/j.oraloncology.2022.106184. PMID:36191479. IF:4,8 (Q1/1D). Document type: Article.
Luque J, Mendes I, Gomez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Perez LA, Montoliu L, Carracedo A, Millan JM, Webb SM, Palau F, Lapunzina P. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. CLINICAL GENETICS. 2022; 101(5-6). DOI:10.1111/cge.14113. PMID:35060122. IF:3,5 (Q2/4D). Document type: Review.
Minguillon J, Ramirez MJ, Rovirosa L, Bustamante P, Camps C, de Garibay GR, Shimelis H, Montanuy H, Pujol R, Hernandez G, Bogliolo M, Castillo P, Soucy P, Martrat G, Gomez A, Cuadras D, Garcia MJ, Gayarre J, Lazaro C, Benitez J, Couch FJ, Pujana MA, Surralles J. CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival. 2022; 14(2):353. DOI:10.3390/cancers14020353. PMID:35053516. IF:5,2 (Q2/3D). Document type: Article.
Parlade E, Volta E, Cano O, Sanchez JM, Unzueta U, Lopez H, Serna N, Cano M, Rodriguez M, Vazquez E, Villaverde A. An In Silico Methodology That Facilitates Decision Making in the Engineering of Nanoscale Protein Materials. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(9):4958. DOI:10.3390/ijms23094958. PMID:35563346. IF:6,208 (Q1/3D). Document type: Article.
Pollard JA, Furutani E, Liu SS, Esrick E, Cohen LE, Bledsoe J, Liu CW, Lu K, de Haro MJR, Sumalles J, Malsch M, Kuniholm A, Galvin A, Armant M, Kim AS, Ballotti K, Moreau L, Zhou Y, Babushok D, Boulad F, Carroll C, Hartung H, Hont A, Nakano T, Olson T, Sze SG, Thompson AA, Wlodarski MW, Gu XS, Libermann TA, D’Andrea A, Grompe M, Weller E, Shimamura A. Metformin for treatment of cytopenias in children and young adults with Fanconi anemia. Blood Advances. 2022; 6(12). DOI:10.1182/bloodadvances.2021006490. PMID:35500223. IF:7,637 (Q1/3D). Document type: Article.
Poyatos J, Marti P, Liquori A, Muelas N, Pitarch I, Martinez L, Rodriguez B, Gonzalez L, Damia M, Aller E, Selva M, Vilchez R, Diaz J, Alonso J, Barcena JE, Jauregui A, Gamez J, Aladren JA, Fernandez A, Montolio M, Azorin I, Hervas D, Casasus A, Nieto M, Gallano P, Sevilla T, Vilchez JJ. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. ANNALS OF NEUROLOGY. 2022; 92(5). DOI:10.1002/ana.26461. PMID:35897138. IF:11,274 (Q1/1D). Document type: Article.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez A-M, Rosenberg A, Luo J-D, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A. Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer. NATURE. 2022; 612(7940). DOI:10.1038/s41586-022-05253-4. PMID:36450981. IF:69,504 (Q1/1D). Document type: Article.

Publicacions 2021

Ali AB, Messaoud O, Elouej S, Talmoudi F, Ayed W, Mellouli F, Ouederni M, Hadiji S, De Sandre A, Delague V, Levy N, Bogliolo M, Surralles J, Abdelhak S, Amouri A. FANCA Gene Mutations in North African Fanconi Anemia Patients. Frontiers in Genetics. 2021; 12:610050. DOI:10.3389/fgene.2021.610050. PMID:33679882. IF:4,772.
Castells L, Gutierrez S, Bonache S, Bogliolo M, Carrasco E, Aza M, Montalban G, Munoz N, Pujol R, Cruz C, Llop A, Ramirez MJ, Saura C, Lasa A, Serra V, Diez O, Balmana J, Surralles J. Clinical consequences of BRCA2 hypomorphism. npj Breast Cancer. 2021; 7(1):117. DOI:10.1038/s41523-021-00322-9. PMID:34504103. IF:7,519.
Castells L, Tejero E, Rodriguez B, Surralles J. CRISPR Screens in Synthetic Lethality and Combinatorial Therapies for Cancer. Cancers. 2021; 13(7):1591. DOI:10.3390/cancers13071591. PMID:33808217. IF:6,575.
Errazquin R, Sieiro E, Moreno P, Ramirez MJ, Lorz C, Peral J, Ortiz J, Casado JA, Roman FJ, Hanenberg H, Rio P, Surralles J, Segrelles C, Garcia R. Generating New FANCA-Deficient HNSCC Cell Lines by Genomic Editing Recapitulates the Cellular Phenotypes of Fanconi Anemia. Genes. 2021; 12(4):548. DOI:10.3390/genes12040548. PMID:33918752. IF:4,141.
Garcia C, Roe E, Rodriguez B, Amat V, Cubiro X, Puig L, Boronat S. A case report of PHF6 mosaicism: Beyond the classic Borjeson-Forssman-Lehmann syndrome. PEDIATRIC DERMATOLOGY. 2021; 38(4). DOI:10.1111/pde.14636. PMID:34041787. IF:1,997.
Ramirez MJ, Pujol R, Trujillo JP, Minguillon J, Bogliolo M, Rio P, Navarro S, Casado JA, Badell I, Carrasco E, Balmana J, Catala A, Sevilla J, Belendez C, Argiles B, Lopez M, de Heredia CD, Rao G, Nicoletti E, Schwartz JD, Bueren JA, Surralles J. Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients. AMERICAN JOURNAL OF HEMATOLOGY. 2021; 96(8). DOI:10.1002/ajh.26234. PMID:33984160. IF:13,265.
Sevilla J, Navarro S, Rio P, Sanchez R, Zubicaray J, Galvez E, Merino E, Sebastian E, Azqueta C, Casado JA, Segovia JC, Alberquilla O, Bogliolo M, Roman FJ, Gimenez Y, Larcher L, Salgado R, Pujol RM, Hladun R, Castillo A, Soulier J, Querol S, Fernandez J, Schwartz J, de Andoin NG, Lopez R, Catala A, Surralles J, Diaz C, Bueren JA. Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes. Molecular Therapy-Methods & Clinical Development. 2021; 22. DOI:10.1016/j.omtm.2021.06.001. PMID:34485595. IF:5,849.

Selecció de 10 articles en els últims 10 anys
-Ramírez MJ, Pujol R, Trujillo-Quintero JP et al…, and Surrallés J. Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients. Am J Hematol. 2021;1–11. DOI: 10.1002/ajh.26234. (IF 10,04) (22/22): Largest ever reported cohort of Fanconi mosaic patients to demonstrate that somatic genetic correction in blood stem cells leads to long term improved clinical outcome at the hematological level as a probe of concept that gene therapy in Fanconi patients will improve their hematology and long term survival and reduced their leukemia risk.
-Montanuy H, Martínez-Barriocanal A, Casado JA, et al… and Surrallés J. Gefitinib and afatinib show potential efficacy for Fanconi anemia-related head and neck cancer. Clinical Cancer Res. January 31, 2020 doi: 10.1158/1078-0432.CCR-19-1625. (IF: 12.531) (17/17): First ever reported drug to treat Fanconi cancers with rational and a proof of concept that afatinib can be repurposed to treat head and neck cancers in Fanconi patients as it induces cancer specific lethality. These results were the basis of a patent, an orphan drug designation granted by EMA and a clinical trial currently in design and supported by the drug owner Boehringer Ingelheim.
-Río P, Navarro S, Wang W et al…, Surrallés J…and Bueren JA. Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia. Nat Med. 2019 Sep;25(9):1396-1401. doi: 10.1038/s41591-019-0550-z. Epub 2019 Sep 9. (IF: 30,64). (32/37): Outcome of first successful gene therapy clinical trial of Fanconi anemia patients without conditioning. Result of a >20 years collaboration led by Juan A. Bueren team. Surrallés team was in charge of all genetic studies required to recruit and follow Fanconi anemia patients. Funded by an EU project, now licenced to Rocket Pharma. Surrallés team has a 15 years long agreement with Rocket Pharma to continue the follow up of all recruited patients.
-Hernandez G, Ramirez MJ, Minguillón J, et al… and Surrallés J (2018) Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1. Nature Communications. DOI: 10.1038/s41467-018-03433-3. (IF: 14.919) (26/26): This study uncovered EDC4 as a novel BRCA1 interacting protein involved in mRNA decapping and in the end-resection step of DNA repair of double strand breaks by homologous recombination. We also provided evidence that rare EDC4 mutations are associated with increased breast cancer predisposition.
-Bogliolo M, Bluteau D, Lespinasse J, et al…and Surrallés J. Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia. Genet Med. 2018 Apr;20(4):458-463. (IF: 9,93) (10/10): Discovery of a new and rare Fanconi-like cancer predisposition syndrome: in vivo proof of concept study that demonstrates that interstrand cross-link repair suppresses cancer but is not required to maintain bone marrow function.
-Segui, N, *Mina LB, Lázaro C et al…, Surrallés J, and Valle L.(2015) Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair, Gastroenterology. Sep;149(3):563-6. (IF:22.682) (30/32): Identification of a new colorectal cancer gene, FAN1, by NGS. Surrallés team postdoc Leo Mina is co-first author of this highly cited paper as he performed most of the functional studies.
-Trujillo JP and J Surralles (2015) Savior siblings and Fanconi anemia: analysis of success rates from the family’s perspective. Genetics in Medicine. Nov;17(11):935-8. (IF: 8,822) (2/2): First follow up of parents of Fanconi anemia patients undergoing preimplantation genetic diagnosis to obtain healthy and HLA compatible savior babies. Fanconi was the first disease to be applied this concept in the history of medicine and this study was the first to follow 40 IVF cycles from ooctyes to babies born.
-Bogliolo M., Schuster B., Stoepker C. et al… Detlev Schindler D. and Surrallés J. Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi anemia. Am. J. Hum. Genet. 2013 ; 92, 1-7. (IF: 11.025) (22/22): Discovery of ERCC4 as a new Fanconi anemia gene, FANCQ/XPF, by whole exome sequencing and functional studies. This study allowed improving the diagnosis of Fanconi patients and to undertand the doble role and clinical consequences of ERCC4 in nucleotide excision repair and interstrand cross link repair. Highly cited and led by Surrallés team who received the Discovery Award by the Fanconi Anemia Research Fund (2018, Boston) and German Fanconi Anemia Family Support Groupd (2018, Gested, Germany).
-Trujillo JP, Mina LB, Pujol R et al… and Surrallés J (2012) On the role of FAN1 in Fanconi anemia. Blood. 2012 Jul 5;120(1):86-89. (IF: 23.629) (9/9): Demonstration that FAN1 is a FANCD2 interacting DNA nuclease whose deficiency leads to DNA repair deficiency but does not cause Fanconi anemia.
-Castellà M, Pujol R, Callén R, et al…and Surrallés J. (2011) Origin, functional role and clinical impact of Fanconi anemia FANCA mutations. Blood 117:3759-69. (IF: 23.629) (32/32): One of the largests cohorts of Fanconi anemia patients genetically and clinically characterized to demonstrate that a large proportion of Fanconi patient bear missense mutations leading to abnormally located but stable FANCA protein, as an opportunity for rescuing strategies. This study also explains the origen of the most frequent FA mutation.

presentació

La investigació sobre aquestes síndromes és important per desentranyar els mecanismes que ens protegeixen del càncer.

Línies principals de Recerca:

Genètica i biologia molecular de síndromes genètiques amb predisposició al càncer. Aquesta recerca es focalitza en el càncer de mama familiar i en l’anèmia de Fanconi.
Caracterització genètica dels pacients de anèmia de Fanconi i identificació de nous gens implicats en la malaltia i en la síndrome hereditària del càncer de mama.
Desenvolupament de noves eines diagnòstiques i terapèutiques en l’anèmia de Fanconi, incloent-hi la teràpia gènica, la medicina regenerativa i el reposicionament de fàrmacs.
Mecanismes d’inestabilidad genómica i predisposició al càncer. Estudi de la reparació d’ADN i conseqüències biològiques i clíniques del defecte en la reparació de l’ADN.
Ruta anèmia de Fanconi/BRCA en cáncer. Implicacions dels gens Fanconi en càncer i el seu ús com a blanc terapèutic contra el càncer.

equip

Coordinació del grup

SURRALLES CALONGE, JORDI
jsurralles@santpau.cat

Membres

producció científica

Publicacions 2023

(JIF 2023)

Publicacions 2022

(JIF 2022)

Alias L, de Heredia ML, Luna S, Cliville N, Gonzalez L, Gallano P, de Juan J, Pujol A, Diez S, Boronat S, Orus C, Lasa A, Venegas MD. Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness. Frontiers in Genetics. 2022; 13:1024742. DOI:10.3389/fgene.2022.998898. PMID:36330437. IF:3,7 (Q2/4D). Document type: Article.
Casado JA, Valeri A, Sanchez R, Vela P, Lopez A, Navarro S, Alberquilla O, Hanenberg H, Pujol R, Segovia JC, Minguillon J, Surralles J, de Heredia CD, Sevilla J, Rio P, Bueren JA. Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia. JOURNAL OF CLINICAL INVESTIGATION. 2022; 132(15):e142842. DOI:10.1172/JCI142842. PMID:35671096. IF:15,9 (Q1/1D). Document type: Article.
Cruz R, Diz S, de Heredia ML, Quintela I, Ceballos FC, Lorenzo GM, Gonzalez R, Gago M, Porras MS, Castano J, Nevado J, Aguado JM, Aguilar C, Aguilera S, Almadana V, Almoguera B, Alvarez N, Andreu A, Arana E, Arango C, Arranz MJ, Artiga MJ, Baptista RC, Barreda M, Belhassen M, Bezerra JF, Bezerra M, Boix L, Brion M, Brugada R, Bustos M, Calderon EJ, et al. [Martínez-Perez A, Soria JM, Souto JC, Fernández-Cadenas I]. Novel genes and sex differences in COVID-19 severity. HUMAN MOLECULAR GENETICS. 2022; 31(22). DOI:10.1093/hmg/ddac132. PMID:35708486. IF:3,5 (Q2/4D). Document type: Article.
Encarnacion JA, Cerezuela P, Espanol I, Garcia MR, Manso C, De la Fuente I, Garrigos N, Viney A, Minguillon J, Surralles J. Fanconi-like anemia related to a FANCM mutation. European Journal of Medical Genetics. 2022; 65(1):104399. DOI:10.1016/j.ejmg.2021.104399. PMID:34793962. IF:1,9 (Q4/8D). Document type: Article.
Errazquin R, Page A, Suñol A, Segrelles C, Carrasco E, Peral J, Garrido A, Del Marro S, Ortiz J, Lorz C, Minguillon J, Surralles J, Belendez C, Alvarez M, Balmaña J, Bravo A, Ramirez A, Garcia R. Development of a mouse model for spontaneous oral squamous cell carcinoma in Fanconi anemia. ORAL ONCOLOGY. 2022; 134:106184. DOI:10.1016/j.oraloncology.2022.106184. PMID:36191479. IF:4,8 (Q1/1D). Document type: Article.
Luque J, Mendes I, Gomez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Perez LA, Montoliu L, Carracedo A, Millan JM, Webb SM, Palau F, Lapunzina P. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. CLINICAL GENETICS. 2022; 101(5-6). DOI:10.1111/cge.14113. PMID:35060122. IF:3,5 (Q2/4D). Document type: Review.
Minguillon J, Ramirez MJ, Rovirosa L, Bustamante P, Camps C, de Garibay GR, Shimelis H, Montanuy H, Pujol R, Hernandez G, Bogliolo M, Castillo P, Soucy P, Martrat G, Gomez A, Cuadras D, Garcia MJ, Gayarre J, Lazaro C, Benitez J, Couch FJ, Pujana MA, Surralles J. CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival. 2022; 14(2):353. DOI:10.3390/cancers14020353. PMID:35053516. IF:5,2 (Q2/3D). Document type: Article.
Parlade E, Volta E, Cano O, Sanchez JM, Unzueta U, Lopez H, Serna N, Cano M, Rodriguez M, Vazquez E, Villaverde A. An In Silico Methodology That Facilitates Decision Making in the Engineering of Nanoscale Protein Materials. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022; 23(9):4958. DOI:10.3390/ijms23094958. PMID:35563346. IF:6,208 (Q1/3D). Document type: Article.
Pollard JA, Furutani E, Liu SS, Esrick E, Cohen LE, Bledsoe J, Liu CW, Lu K, de Haro MJR, Sumalles J, Malsch M, Kuniholm A, Galvin A, Armant M, Kim AS, Ballotti K, Moreau L, Zhou Y, Babushok D, Boulad F, Carroll C, Hartung H, Hont A, Nakano T, Olson T, Sze SG, Thompson AA, Wlodarski MW, Gu XS, Libermann TA, D’Andrea A, Grompe M, Weller E, Shimamura A. Metformin for treatment of cytopenias in children and young adults with Fanconi anemia. Blood Advances. 2022; 6(12). DOI:10.1182/bloodadvances.2021006490. PMID:35500223. IF:7,637 (Q1/3D). Document type: Article.
Poyatos J, Marti P, Liquori A, Muelas N, Pitarch I, Martinez L, Rodriguez B, Gonzalez L, Damia M, Aller E, Selva M, Vilchez R, Diaz J, Alonso J, Barcena JE, Jauregui A, Gamez J, Aladren JA, Fernandez A, Montolio M, Azorin I, Hervas D, Casasus A, Nieto M, Gallano P, Sevilla T, Vilchez JJ. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. ANNALS OF NEUROLOGY. 2022; 92(5). DOI:10.1002/ana.26461. PMID:35897138. IF:11,274 (Q1/1D). Document type: Article.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez A-M, Rosenberg A, Luo J-D, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A. Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer. NATURE. 2022; 612(7940). DOI:10.1038/s41586-022-05253-4. PMID:36450981. IF:69,504 (Q1/1D). Document type: Article.

Publicacions 2021

Ali AB, Messaoud O, Elouej S, Talmoudi F, Ayed W, Mellouli F, Ouederni M, Hadiji S, De Sandre A, Delague V, Levy N, Bogliolo M, Surralles J, Abdelhak S, Amouri A. FANCA Gene Mutations in North African Fanconi Anemia Patients. Frontiers in Genetics. 2021; 12:610050. DOI:10.3389/fgene.2021.610050. PMID:33679882. IF:4,772.
Castells L, Gutierrez S, Bonache S, Bogliolo M, Carrasco E, Aza M, Montalban G, Munoz N, Pujol R, Cruz C, Llop A, Ramirez MJ, Saura C, Lasa A, Serra V, Diez O, Balmana J, Surralles J. Clinical consequences of BRCA2 hypomorphism. npj Breast Cancer. 2021; 7(1):117. DOI:10.1038/s41523-021-00322-9. PMID:34504103. IF:7,519.
Castells L, Tejero E, Rodriguez B, Surralles J. CRISPR Screens in Synthetic Lethality and Combinatorial Therapies for Cancer. Cancers. 2021; 13(7):1591. DOI:10.3390/cancers13071591. PMID:33808217. IF:6,575.
Errazquin R, Sieiro E, Moreno P, Ramirez MJ, Lorz C, Peral J, Ortiz J, Casado JA, Roman FJ, Hanenberg H, Rio P, Surralles J, Segrelles C, Garcia R. Generating New FANCA-Deficient HNSCC Cell Lines by Genomic Editing Recapitulates the Cellular Phenotypes of Fanconi Anemia. Genes. 2021; 12(4):548. DOI:10.3390/genes12040548. PMID:33918752. IF:4,141.
Garcia C, Roe E, Rodriguez B, Amat V, Cubiro X, Puig L, Boronat S. A case report of PHF6 mosaicism: Beyond the classic Borjeson-Forssman-Lehmann syndrome. PEDIATRIC DERMATOLOGY. 2021; 38(4). DOI:10.1111/pde.14636. PMID:34041787. IF:1,997.
Ramirez MJ, Pujol R, Trujillo JP, Minguillon J, Bogliolo M, Rio P, Navarro S, Casado JA, Badell I, Carrasco E, Balmana J, Catala A, Sevilla J, Belendez C, Argiles B, Lopez M, de Heredia CD, Rao G, Nicoletti E, Schwartz JD, Bueren JA, Surralles J. Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients. AMERICAN JOURNAL OF HEMATOLOGY. 2021; 96(8). DOI:10.1002/ajh.26234. PMID:33984160. IF:13,265.
Sevilla J, Navarro S, Rio P, Sanchez R, Zubicaray J, Galvez E, Merino E, Sebastian E, Azqueta C, Casado JA, Segovia JC, Alberquilla O, Bogliolo M, Roman FJ, Gimenez Y, Larcher L, Salgado R, Pujol RM, Hladun R, Castillo A, Soulier J, Querol S, Fernandez J, Schwartz J, de Andoin NG, Lopez R, Catala A, Surralles J, Diaz C, Bueren JA. Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes. Molecular Therapy-Methods & Clinical Development. 2021; 22. DOI:10.1016/j.omtm.2021.06.001. PMID:34485595. IF:5,849.

MALALTIES ONCO-HEMATOLòGIQUES

Síndromes de reparació del DNA i predisposició al càncer

Coordinació del grup

Membres

Publicacions 2023

Publicacions 2022

Publicacions 2021

Coordinació del grup

Membres

Publicacions 2023

Publicacions 2022

Publicacions 2021

Institut de recerca de l’hospital de la santa creu i sant pau