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01/02/2024 The splicing factor SF3B1 is involved in brown adipocyte thermogenic activation
Castellá, M, Mestres-Arenas, A, Gavaldà-Navarro, A, Blasco-Roset, A, Quesada-López, T, Romero-Carramiñana, I, Giralt, M, Villarroya, F, Cereijo, R. The splicing factor SF3B1 is involved in brown adipocyte thermogenic activation. BIOCHEMICAL PHARMACOLOGY. 2024; 220DOI:10.1016/j.bcp.2023.116014. PMID:38158020. IF:5.600(Q1/1D).
02/11/2023 Circulating exosomes decrease in size and increase in number between birth and age 7: relations to fetal growth and liver fat
Díaz, M, Casano, P, Quesada, T, López-Bermejo, A, de Zegher, F, Villarroya, F, Ibáñez, L. Circulating exosomes decrease in size and increase in number between birth and age 7: relations to fetal growth and liver fat. Frontiers in Endocrinology. 2023; 14DOI:10.3389/fendo.2023.1257768. PMID:38027180. IF:3.900(Q2/3D).
01/11/2023 A Randomized Trial of Dolutegravir Plus Darunavir/Cobicistat as a Switch Strategy in HIV-1-Infected Patients With Resistance to at Least 2 Antiretroviral Classes
Santos, JR, Domingo, P, Portilla, J, Gutiérrez, F, Imaz, A, Vilchez, H, Curran, A, Valcarce-Pardeiro, N, Payeras, A, Bernal, E, Montero-Alonso, M, Yzusqui, M, Clotet, B, Videla, S, Moltó, J, Paredes, R. A Randomized Trial of Dolutegravir Plus Darunavir/Cobicistat as a Switch Strategy in HIV-1-Infected Patients With Resistance to at Least 2 Antiretroviral Classes. Open Forum Infectious Diseases. 2023; 10(11)DOI:10.1093/ofid/ofad542. PMID:38023553. IF:3.800(Q2/3D).
04/07/2023 Cohort Profile: PISCIS, a population-based cohort of people living with HIV in Catalonia and Balearic Islands
Bruguera, A, Nomah, D, Moreno-Fornis, S, Diaz, Y, Aceiton, J, Reyes-Uruena, J, Ambrosioni, J, Llibre, JM, Falco, V, Imaz, A, Fanjul, F, Navarro, G, Pere, D, Leon, E, Mera, A, Miro, JM, Casabona, J. Cohort Profile: PISCIS, a population-based cohort of people living with HIV in Catalonia and Balearic Islands. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY. 2023; 52(4)DOI:10.1093/ije/dyad083. PMID:37403345. IF:6.400(Q1/1D).
26/06/2023 Effectiveness and safety of integrase strand transfer inhibitors in Spain: a prospective real-world study
Santos J.R., Casadellà M., Noguera-Julian M., Micán-Rivera R., Domingo P., Antela A., Portilla J., Sanz J., Montero-Alonso M., Navarro J., Masiá M., Valcarce-Pardeiro N., Ocampo A., Pérez-Martínez L., García-Vallecillos C., Vivancos M.J., Imaz A., Iribarren J.A., Hernández-Quero J., Villar-García J., Barrufet P., Paredes R.. Effectiveness and safety of integrase strand transfer inhibitors in Spain: a prospective real-world study. Frontiers in Cellular and Infection Microbiology. 2023; 13DOI:10.3389/fcimb.2023.1187999. PMID:37434782. IF:4.600(Q1/3D).
16/06/2023 Adipose tissue plasticity in pheochromocytoma patients suggests a role of the splicing machinery in human adipose browning
Castella, M, Blasco-Roset, A, Peyrou, M, Gavalda-Navarro, A, Villarroya, J, Quesada-Lopez, T, Lorente-Poch, L, Sancho, J, Szymczak, F, Piron, A, Rodriguez-Fernandez, S, Carobbio, S, Goday, A, Domingo, P, Vidal-Puig, A, Giralt, M, Eizirik, DL, Villarroya, F, Cereijo, R. Adipose tissue plasticity in pheochromocytoma patients suggests a role of the splicing machinery in human adipose browning. iScience. 2023; 26(6)DOI:10.1016/j.isci.2023.106847. PMID:37250773. IF:4.600(Q1/2D).
23/05/2023 Acute Bacterial Meningitis in Healthy Adult Patients: A Prospective Cohort Study
Pomar, V, Benito, N, Duch, P, Colome, M, Rivera, A, Domingo, P. Acute Bacterial Meningitis in Healthy Adult Patients: A Prospective Cohort Study. Journal of Clinical Medicine. 2023; 12(11)DOI:10.3390/jcm12113624. PMID:37297818. IF:3.000(Q1/2D).
19/05/2023 Incidence of Hypertension and Blood Pressure Changes in Persons With Human Immunodeficiency Virus (HIV) at High Risk for Cardiovascular Disease Switching From Boosted Protease Inhibitors to Dolutegravir: A Post-hoc Analysis of the 96-week Randomised NEAT-022 Trial
Sempere, A, Assoumou, L, Gonzalez-Cordon, A, Waters, L, Rusconi, S, Domingo, P, Gompels, M, de Wit, S, Raffi, F, Stephan, C, Masia, M, Rockstroh, J, Katlama, C, Behrens, GMN, Moyle, G, Johnson, M, Fox, J, Stellbrink, HJ, Guaraldi, G, Florence, E, Esser, S, Gatell, J, Pozniak, A, Martinez, E. Incidence of Hypertension and Blood Pressure Changes in Persons With Human Immunodeficiency Virus (HIV) at High Risk for Cardiovascular Disease Switching From Boosted Protease Inhibitors to Dolutegravir: A Post-hoc Analysis of the 96-week Randomised NEAT-022 Trial. CLINICAL INFECTIOUS DISEASES. 2023; 77(7)DOI:10.1093/cid/ciad297. PMID:37207617. IF:8.200(Q1/1D).
08/04/2023 Circulating progranulin in human infants: relation to prenatal growth and early postnatal nutrition
Diaz, M, Mestres-Arenas, A, Lerin, C, Cereijo, R, Lopez-Bermejo, A, de Zegher, F, Villarroya, F, Ibanez, L. Circulating progranulin in human infants: relation to prenatal growth and early postnatal nutrition. PEDIATRIC RESEARCH. 2023; 94(3)DOI:10.1038/s41390-023-02595-1. PMID:37031297. IF:3.100(Q1/2D).
29/03/2023 Who is lost to follow-up in HIV care? Assessment of care retention over time and the impact of COVID-19. Longitudinal analysis of the PISCIS cohort
Palacio-Vieira J., Moreno-Fornés S., Díaz Y., Aceitón J., Bruguera A., Nomah D.K., Llibre J.M., Knobel H., Chivite I., Miro J.M., Domingo P., Suanzes P., Fanjul F., Navarro G., Macorigh L., Mera A., Casabona J., Imaz A., Reyes-Urueña J.. Who is lost to follow-up in HIV care? Assessment of care retention over time and the impact of COVID-19. Longitudinal analysis of the PISCIS cohort. HIV MEDICINE. 2023; 24(9)DOI:10.1111/hiv.13486. PMID:36990962. IF:2.800(Q2/5D).
02/03/2023 Meteorin-like levels are associated with active brown adipose tissue in early infancy
Garcia-Beltran, C, Navarro-Gascon, A, Lopez-Bermejo, A, Quesada-Lopez, T, de Zegher, F, Ibanez, L, Villarroya, F. Meteorin-like levels are associated with active brown adipose tissue in early infancy. Frontiers in Endocrinology. 2023; 14DOI:10.3389/fendo.2023.1136245. PMID:36936161. IF:3.900(Q2/3D).
01/03/2023 Limited Weight Impact After Switching From Boosted Protease Inhibitors to Dolutegravir in Persons With Human Immunodeficiency Virus With High Cardiovascular Risk: A Post Hoc Analysis of the 96-Week NEAT-022 Randomized Trial
Waters, L, Assoumou, L, Gonzalez-Cordon, A, Rusconi, S, Domingo, P, Gompels, M, de Wit, S, Raffi, F, Stephan, C, Masia, M, Rockstroh, J, Katlama, C, Behrens, GMN, Moyle, G, Johnson, M, Fox, J, Stellbrink, HJ, Guaraldi, G, Florence, E, Esser, S, Gatell, JM, Pozniak, A, Martinez, E. Limited Weight Impact After Switching From Boosted Protease Inhibitors to Dolutegravir in Persons With Human Immunodeficiency Virus With High Cardiovascular Risk: A Post Hoc Analysis of the 96-Week NEAT-022 Randomized Trial. CLINICAL INFECTIOUS DISEASES. 2023; 76(5)DOI:10.1093/cid/ciac827. PMID:36259527. IF:8.200(Q1/1D).
01/01/2023 Obesity-Related Single-Nucleotide Polymorphisms and Weight Gain following First-Line Antiretroviral Therapy
Berenguer J., Jarrín I., Bellón J.M., Díez C., Jiménez-Sousa M.A., Roca C., González-García J., Dalmau D., Olalla J., Herrero C., Villarroya F., Domingo P., Resino S.. Obesity-Related Single-Nucleotide Polymorphisms and Weight Gain following First-Line Antiretroviral Therapy. CLINICAL INFECTIOUS DISEASES. 2023; 76(6)DOI:10.1093/cid/ciac880. PMID:36345912. IF:(Q/D).
01/01/2023 Cardiovascular events in delayed presentation of HIV: the prospective PISCIS cohort study
Martín-Iguacel R., Vazquez-Friol M.C., Burgos J., Bruguera A., Reyes-Urueña J., Moreno-Fornés S., Aceitón J., Díaz Y., Domingo P., Saumoy M., Knobel H., Dalmau D., Borjabad B., Johansen I.S., Miro J.M., Casabona J., Llibre J.M.. Cardiovascular events in delayed presentation of HIV: the prospective PISCIS cohort study. Frontiers in Medicine. 2023; 10DOI:10.3389/fmed.2023.1182359. PMID:37415770. IF:3.100(Q1/2D).
01/11/2022 Analysis of the costs associated with the follow-up of HIV patients discontinuing antiretroviral treatment due to lack of effectiveness or unacceptable toxicity in Spain
Castro, A, Diaz, P, Domingo, P, Garcia-Yubero, C, Losa-Garcia, JE, Castro, A, Vidal-Vilar, N, Aceituno, S. Analysis of the costs associated with the follow-up of HIV patients discontinuing antiretroviral treatment due to lack of effectiveness or unacceptable toxicity in Spain. Farmacia Hospitalaria. 2022; 46(6)DOI:10.7399/fh.13038. PMID:36520571. IF:(Q/D).
01/11/2022 Differential effects of dolutegravir, bictegravir and raltegravir in adipokines and inflammation markers on human adipocytes
Domingo, P, Quesada-Lopez, T, Villarroya, J, Cairo, M, Gutierrez, MD, Mateo, MG, Mur, I, Corbacho, N, Domingo, JC, Villarroya, F, Giralt, M. Differential effects of dolutegravir, bictegravir and raltegravir in adipokines and inflammation markers on human adipocytes. LIFE SCIENCES. 2022; 308DOI:10.1016/j.lfs.2022.120948. PMID:36096241. IF:6.100(Q1/2D).
01/10/2022 The role of nurses in the prevention of anal cancer in HIV- infected men having sex with men - a focus on papillomavirus vaccination and anal cytology screening
Munoz-Rodriguez, J, Millan-Revilla, L. The role of nurses in the prevention of anal cancer in HIV- infected men having sex with men - a focus on papillomavirus vaccination and anal cytology screening. AIDS REVIEWS. 2022; 24(4)DOI:10.24875/AIDSRev.M22000053. PMID:36580603. IF:2.200(Q4/8D).
01/01/2022 Observational cohort study of rilpivirine (RPV) utilization in Europe
Cozzi-Lepri A., Peters L., Pelchen-Matthews A., Neesgaard B., Stephan C., Elbirt D., Brännström J., Paduta D., Trofimova T., Szlavik J., Van Eygen V., Pai H., Lundgren J., Harxhi A., Losso M., Kundro M., Schmied B., Karpov I., Vassilenko A., Paduto D., Mitsura V.M., Clumeck N., De Wit S., Delforge M., Hadziosmanovic V., Begovac J., Machala L., Jilich D., Gerstoft J., Pedersen C., Sedlacek D., Kronborg G., Benfield T., Johansen I.S., Ostergaard L., Wiese L., Moller N.F., Nielsen L.N., Zilmer K., Smidt J., Aho I., Viard J.P., Girard P.M., Pradier C., Fontas E., Duvivier C., Rockstroh J., Degen O., Hoffmann C., Stellbrink H.J., Stefan C., Bogner J., Fätkenheuer G., Chkhartishvili N., Sambatakou H., Adamis G., Paissios N., Uzdaviniene V., Staub T., Dragas S., Reiss P., Trajanovska J., Reikvam D.H., Maeland A., Bruun J., Knysz B., Szetela B., Inglot M., Bakowska E., Flisiak R., Grzeszczuk A., Parczewski M., Maciejewska K., Aksak-Was B., Beniowski M., Mularska E., Jablonowska E., Kamerys J., Wojcik K., Mozer-Lisewska I., Rozplochowski B., Zagalo A., Radoi R., Oprea C., Yakovlev A., Trofimora T., Khromova I., Kuzovatova E., Borodulina E., Vdoushkina E., Ranin J., Tomazic J., Miro J.M., Laguno M., Martinez E., Garcia F., Blanco J.L., Martinez-Rebollar M., Mallolas J., Callau P., Rojas J., Moreno S., del Campo S., Jou A., Paredes R., Puig J., Llibre J.M., Santos J.R., Domingo P., Gutierrez M., Mateo G.M., Sambeat A., Laporte J.M., Svedhem V., Thalme A., Sonnerborg A., Flamholc L., Kusejko K., Weber R., Calmy A., Furrer H., Battegay M., Schmid P., Kuznetsova A., Mikhalik J., Sluzhynska M., Milinkovic A., Johnson A.M., Simons E., Edwards S., Phillips A.M., Johnson A., Mocroft A., Orkin C., Winston A., Clarke A., Leen C.. Observational cohort study of rilpivirine (RPV) utilization in Europe. AIDS Research and Therapy. 2022; 19(1)DOI:10.1186/s12981-022-00457-0. PMID:35933352. IF:2.200(Q4/8D).
01/01/2022 Determinants of long-term survival in late HIV presenters: The prospective PISCIS cohort study
Martin-Iguacel R., Reyes-Urueña J., Bruguera A., Aceitón J., Díaz Y., Moreno-Fornés S., Domingo P., Burgos-Cibrian J., Tiraboschi J.M., Johansen I.S., Álvarez H., Miró J.M., Casabona J., Llibre J.M.. Determinants of long-term survival in late HIV presenters: The prospective PISCIS cohort study. Eclinicalmedicine. 2022; 52DOI:10.1016/j.eclinm.2022.101600. PMID:35958520. IF:15.100(Q1/1D).
01/01/2022 A diabetic milieu increases ACE2 expression and cellular susceptibility to SARS-CoV-2 infections in human kidney organoids and patient cells
Garreta E., Prado P., Stanifer M.L., Monteil V., Marco A., Ullate-Agote A., Moya-Rull D., Vilas-Zornoza A., Tarantino C., Romero J.P., Jonsson G., Oria R., Leopoldi A., Hagelkruys A., Gallo M., González F., Domingo-Pedrol P., Gavaldà A., del Pozo C.H., Hasan Ali O., Ventura-Aguiar P., Campistol J.M., Prosper F., Mirazimi A., Boulant S., Penninger J.M., Montserrat N.. A diabetic milieu increases ACE2 expression and cellular susceptibility to SARS-CoV-2 infections in human kidney organoids and patient cells. Cell Metabolism. 2022; 34(6)DOI:10.1016/j.cmet.2022.04.009. PMID:35561674. IF:29.000(Q1/1D).
01/01/2022 Associations of modern initial antiretroviral drug regimens with all-cause mortality in adults with HIV in Europe and North America: a cohort study
Trickey A., Zhang L., Gill M.J., Bonnet F., Burkholder G., Castagna A., Cavassini M., Cichon P., Crane H., Domingo P., Grabar S., Guest J., Obel N., Psichogiou M., Rava M., Reiss P., Rentsch C.T., Riera M., Schuettfort G., Silverberg M.J., Smith C., Stecher M., Sterling T.R., Ingle S.M., Sabin C.A., Sterne J.A.C.. Associations of modern initial antiretroviral drug regimens with all-cause mortality in adults with HIV in Europe and North America: a cohort study. Lancet HIV. 2022; 9(6)DOI:10.1016/S2352-3018(22)00046-7. PMID:35659335. IF:(Q/D).
01/01/2022 Executive summary clinical practice guideline of postmenopausal, glucocorticoid-induced, and male osteoporosis (2022 update)
Riancho J.A., Peris P., González-Macías J., Pérez-Castrillón J.L., Cannata Andía J., Cano A., Carbonell Abella C., Casado Burgos E., Ciria Recasens M., Corral-Gudino L., del Pino Montes J., Del Río Barquero L.M., Díaz Curiel M., Díez Pérez A., García Vadillo A., Gómez Alonso C., Gómez de Tejada Romero M.J., Guañabens N., Hawkins Carranza F., Jódar Gimeno E., Malouf Sierra J., Martínez Díaz-Guerra G., Monegal Brancos A., Muñoz Torres M., Naves Díaz M., Nogues X., Nolla J.M., Olmos Martínez J.M., Peris Bernal P., Quesada Gómez J.M., Rodríguez García M., Sosa Henríquez M., Torrijos Eslava A., Valero Díaz de Lamadrid C.. Executive summary clinical practice guideline of postmenopausal, glucocorticoid-induced, and male osteoporosis (2022 update). Revista De Osteoporosis Y Metabolismo Mineral. 2022; 14(1)DOI:10.4321/S1889-836X2022000100002. PMID:. IF:(Q/D).
14/10/2025 Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia
Tejero, E, de Haro, MJR, Pujol, R, Bogliolo, M, Rodríguez-Santiago, B, Surrallés, J. Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia. Orphanet Journal of Rare Diseases. 2025; 20(1)DOI:10.1186/s13023-025-03928-5. PMID:41088272. IF:3.500(Q2/4D).
01/10/2025 Eltrombopag for Bone Marrow Failure in Fanconi Anemia: Results From the Phase II Clinical Trial FANCREV
Iriondo, J, Zubicaray, J, Rio, P, Catala, A, Solsona, M, Sanz, A, Gomez, A, Sebastian, E, de la Cruz, A, Galan, A, Navarro, S, Larcher, L, de Andoin, NG, Uriz, JJ, Vagace, JM, de Pablo, JG, Pujol, MR, Nicoletti, E, Surralles, J, Martin-Prado, S, Schwartz, JD, Soulier, J, Bueren, JA, Sevilla, J. Eltrombopag for Bone Marrow Failure in Fanconi Anemia: Results From the Phase II Clinical Trial FANCREV. EUROPEAN JOURNAL OF HAEMATOLOGY. 2025; 115(4)DOI:10.1111/ejh.70007. PMID:40665878. IF:2.300(Q2/5D).
01/05/2025 Strategies for early detection and detailed characterization of oral lesions and head and neck squamous cell carcinoma in Fanconi anemia patients
Beddok, A, Velleuer, E, Fontbrune, FSD, Brakenhoff, RH, Dalle, JH, Dufour, C, Faivre, S, Genet, C, Klijanienko, J, Krieg, C, Leblanc, T, Martinez, P, Latour, RP, Rigolet, A, Saintigny, P, Lyonnet, DS, Soulier, J, Surralles, J, Schramm, M, Thariat, J. Strategies for early detection and detailed characterization of oral lesions and head and neck squamous cell carcinoma in Fanconi anemia patients. CANCER LETTERS. 2025; 617DOI:10.1016/j.canlet.2025.217529. PMID:40054658. IF:10.100(Q1/1D).
01/02/2025 Prognostic significance of mutation type and chromosome fragility in Fanconi anemia
Ramírez, MJ, Pujol, R, Minguillón, J, Bogliolo, M, Persico, I, Cavero, D, de la Cal, A, Río, P, Navarro, S, Casado, JA, Bailador, A, de la Fuente, AS, de Heredia, ML, Almazán, F, Antelo, ML, Argilés, B, Badell, I, Baragaño, M, Beléndez, C, Bermúdez, M, Bernués, M, Buedo, MI, Carrasco, E, Català, A, Costa, D, Cuesta, I, Fernández-Delgado, R, Fernández-Teijeir, A, Figuera, A, García, M, Gondra, A, González, M, Muñiz, SG, Hernández-Rodríguez, I, Ibañez, F, Kelleher, NJ, Lendínez, F, López, M, López-Almaraz, R, Marchante, I, Mendoza, C, Nieto, J, Ojeda, E, Payán-Pernía, S, Peláez, I, de Soto, IP, Portugal, R, Ramos-Arroyo, MA, Regueiro, A, Rodríguez, A, Rosell, J, Saez, R, Sánchez, J, Sánchez, M, Senent, ML, Tapia, M, Trujillo-Quintero, JP, Vagace, JM, Verdú-Amorós, J, Verdugo, V, Vidales, I, Villarreal, J, Díaz-de-Heredia, C, Sevilla, J, Bueren, J, Surralles, J. Prognostic significance of mutation type and chromosome fragility in Fanconi anemia. AMERICAN JOURNAL OF HEMATOLOGY. 2025; 100(2)DOI:10.1002/ajh.27520. PMID:39562502. IF:9.900(Q1/1D).
01/01/2025 Targeting protein-protein interactions in drug discovery: Modulators approved or in clinical trials for cancer treatment
Camps-Fajol, C, Cavero, D, Minguillon, J, Surralles, J. Targeting protein-protein interactions in drug discovery: Modulators approved or in clinical trials for cancer treatment. PHARMACOLOGICAL RESEARCH. 2025; 211DOI:10.1016/j.phrs.2024.107544. PMID:39667542. IF:10.500(Q1/1D).
01/01/2025 A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps
Segarra-Casas, A, Iruzubieta, P, Kapetanovic, S, Hernández-Laín, A, Jericó, I, Fernández-Torrón, R, Maneiro, M, Marco-Moreno, P, Zelaya-Huerta, MV, Rodríguez-Santiago, B, Calafell, F, Töpf, A, Straub, V, Vallejo-Illarramendi, A, de Munain, AL, Gallano, P, Gonzalez-Quereda, L. A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps. EUROPEAN JOURNAL OF NEUROLOGY. 2025; 32(1)DOI:10.1111/ene.16471. PMID:39742415. IF:3.900(Q1/3D).
21/12/2024 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, Sebastian, 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, Diez, B, Fernández-García, M, García-García, L, Ramírez, M, Galy, A, Lefrere, F, Cavazzana, M, Leblanc, T, de Andoin, NG, López-Almaraz, R, Catala, A, Barquinero, J, Rodríguez-Perales, S, Rao, G, Surrallés, J, Soulier, J, Díaz-de-Heredia, C, Schwartz, JD, Sevilla, J, Bueren, JA. 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. LANCET. 2024; 404(10471)DOI:10.1016/S0140-6736(24)01880-4. PMID:39642902. IF:88.500(Q1/1D).
20/07/2023 A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C & gt;G splicing mutation
Persico I., Fontana G., Faleschini M., Zanchetta M.E., 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; 14DOI:10.3389/fgene.2023.1209138. PMID:37547463. IF:2.800(Q2/5D).
21/06/2023 Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
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; 14DOI:10.3389/fgene.2023.1198171. PMID:37415600. IF:2.800(Q2/5D).
01/04/2023 Intermittent inotropic support with levosimendan in advanced heart failure as destination therapy: The LEVO-D registry
Dobarro, D, Donoso-Trenado, V, Sole-Gonzalez, E, Moliner-Abos, C, Garcia-Pinilla, JM, Lopez-Fernandez, S, Ruiz-Bustillo, S, Diez-Lopez, C, Castrodeza, J, Mendez-Fernandez, AB, Vaqueriza-Cubillo, D, Cobo-Marcos, M, Tobar, J, Sagasti-Aboitiz, I, Rodriguez, M, Escolar, V, Abecia, A, Codina, P, Gomez-Otero, I, Pastor, F, Marzoa-Rivas, R, Gonzalez-Babarro, E, de Juan-Baguda, J, Melendo-Viu, M, de Frutos, F, Gonzalez-Costello, 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(Q2/3D).
01/01/2023 A crowdsourcing database for the copy-number variation of the Spanish population
López-López D., Roldán G., Fernández-Rueda J.L., Bostelmann G., Carmona R., Aquino V., Perez-Florido J., Ortuño F., Pita G., Núñez-Torres R., González-Neira A., Alonso A., Salgado-Garrido J., Pasalodos-Sanchez S., Ayuso C., Minguez P., Avila-Fernandez A., Corton M., Artuch R., Borrego S., Antiñolo G., Carracedo A., Amigo J., Castaño L.A., Tejada I., Delmiro A., Espinos C., Grinberg D., Guillén E., Lapunzina P., Lopez-Escámez J.A., Gallego-Martinez A., Martí R., Rovira E., Millán J.M., Moreno M.A., Morin M., Moreno-Galdó A., Fernández-Cancio M., Morte B., Mulero V., García D., Nunes V., Palau F., Perez B., Jurado L.P., Perona R., Pujol A., Ramos F., Lopez E., Ribes A., Rosell J., Surrallés J., Peña-Chilet M., Dopazo J.. A crowdsourcing database for the copy-number variation of the Spanish population. Human Genomics. 2023; 17(1)DOI:10.1186/s40246-023-00466-8. PMID:36894999. IF:3.800(Q2/3D).
01/01/2023 Repetitive ambulatory levosimendan as a bridge to heart transplantation
de Juan Bagudá J., de Frutos F., López-Vilella R., Couto Mallón D., Guzman-Bofarull J., Blazquez-Bermejo Z., Cobo-Belaustegui M., Mitroi C., Pastor-Pérez F.J., Moliner-Abós C., Rangel-Sousa D., Díaz-Molina B., Tobar-Ruiz J., Salterain Gonzalez N., García-Pinilla J.M., García-Cosío Carmena M.D., Crespo-Leiro M.G., Dobarro D., Almenar L., Delgado-Jiménez J.F., Paredes-Galán E., González-Vílchez F., González-Costello J.. Repetitive ambulatory levosimendan as a bridge to heart transplantation. REVISTA ESPANOLA DE CARDIOLOGIA. 2023; DOI:10.1016/j.recesp.2023.07.005. PMID:. IF:(Q/D).
01/08/2022 Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia
Casado, JA, Valeri, A, Sanchez-Dominguez, 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)DOI:10.1172/JCI142842. PMID:35671096. IF:15.900(Q1/1D).
28/06/2022 Metformin for treatment of cytopenias in children and young adults with Fanconi anemia
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:7.500(Q1/2D).
01/05/2022 CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Luque, J, Mendes, I, Gomez, B, Morte, B, de Heredia, ML, Herreras, E, Corrochano, V, Bueren, J, Gallano, P, Artuch, R, Fillat, C, Perez-Jurado, 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:3.500(Q2/4D).
01/01/2022 Fanconi-like anemia related to a FANCM mutation
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)DOI:10.1016/j.ejmg.2021.104399. PMID:34793962. IF:1.900(Q4/8D).
01/01/2022 CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival
Minguillon, J, Ramirez, MJ, Rovirosa, L, Bustamante-Madrid, P, Camps-Fajol, 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. Cancers. 2022; 14(2)DOI:10.3390/cancers14020353. PMID:35053516. IF:5.200(Q2/3D).
01/01/2022 Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer
Webster A.L.H., Sanders M.A., Patel K., Dietrich R., Noonan R.J., Lach F.P., White R.R., Goldfarb A., Hadi K., Edwards M.M., Donovan F.X., Hoogenboezem R.M., Jung M., Sridhar S., Wiley T.F., Fedrigo O., Tian H., Rosiene J., Heineman T., Kennedy J.A., Bean L., Rosti R.O., Tryon R., Gonzalez A.-M., Rosenberg A., Luo J.-D., Carroll T.S., Shroff S., Beaumont M., Velleuer E., Rastatter J.C., Wells S.I., Surrallés J., Bagby G., MacMillan M.L., Wagner J.E., Cancio M., Boulad F., Scognamiglio T., Vaughan R., Beaumont K.G., Koren A., Imielinski M., Chandrasekharappa S.C., Auerbach A.D., Singh B., Kutler D.I., Campbell P.J., 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:64.800(Q1/1D).