Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 19 entries
Sorted by: Best Match Show Resources per page
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.

American journal of human genetics

Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Currás-Freixes M, Letón R, Torres-Pérez R, Richter S, Pita G, Herráez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, García-Uriarte Ó, Gálvez MÁ, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodríguez-Antona C, Llorca Ó, Smolen GA, Robledo M, Cascón A.
PMID: 31051110
Am J Hum Genet. 2019 May 02;104(5):1008-1010. doi: 10.1016/j.ajhg.2019.04.010.

No abstract available.

Cite
Remacha L, Pirman D, Mahoney CE, et al. Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas. Am J Hum Genet. 2019;104(5):1008-1010doi: 10.1016/j.ajhg.2019.04.010.
Remacha, L., Pirman, D., Mahoney, C. E., Coloma, J., Calsina, B., Currás-Freixes, M., Letón, R., Torres-Pérez, R., Richter, S., Pita, G., Herráez, B., Cianchetta, G., Honrado, E., Maestre, L., Urioste, M., Aller, J., García-Uriarte, �. �., Gálvez, M. �. �., Luque, R. M., Lahera, M., Moreno-Rengel, C., Eisenhofer, G., Montero-Conde, C., Rodríguez-Antona, C., Llorca, �. �., Smolen, G. A., Robledo, M., & Cascón, A. (2019). Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas. American journal of human genetics, 104(5), 1008-1010. https://doi.org/10.1016/j.ajhg.2019.04.010
Remacha, Laura, et al. "Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas." American journal of human genetics vol. 104,5 (2019): 1008-1010. doi: https://doi.org/10.1016/j.ajhg.2019.04.010
Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Currás-Freixes M, Letón R, Torres-Pérez R, Richter S, Pita G, Herráez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, García-Uriarte Ó, Gálvez MÁ, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodríguez-Antona C, Llorca Ó, Smolen GA, Robledo M, Cascón A. Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas. Am J Hum Genet. 2019 May 02;104(5):1008-1010. doi: 10.1016/j.ajhg.2019.04.010. PMID: 31051110; PMCID: PMC6507037.
Copy Download .nbib Format: NLM
Analysis of Telomere Maintenance Related Genes Reveals .

Cancers

Monteagudo M, Martínez P, Leandro-García LJ, Martínez-Montes ÁM, Calsina B, Pulgarín-Alfaro M, Díaz-Talavera A, Mellid S, Letón R, Gil E, Pérez-Martínez M, Megías D, Torres-Ruiz R, Rodriguez-Perales S, González P, Caleiras E, Jiménez-Villa S, Roncador G, Álvarez-Escolá C, Regojo RM, Calatayud M, Guadalix S, Currás-Freixes M, Rapizzi E, Canu L, Nölting S, Remde H, Fassnacht M, Bechmann N, Eisenhofer G, Mannelli M, Beuschlein F, Quinkler M, Rodríguez-Antona C, Cascón A, Blasco MA, Montero-Conde C, Robledo M.
PMID: 34638246
Cancers (Basel). 2021 Sep 23;13(19). doi: 10.3390/cancers13194758.

One of the main problems we face with PPGL is the lack of molecular markers capable of predicting the development of metastases in patients. Telomere-related genes, such as

Cite
Monteagudo M, Martínez P, Leandro-García LJ, et al. Analysis of Telomere Maintenance Related Genes Reveals . Cancers (Basel). 2021;13(19)doi: 10.3390/cancers13194758.
Monteagudo, M., Martínez, P., Leandro-García, L. J., Martínez-Montes, �. �. M., Calsina, B., Pulgarín-Alfaro, M., Díaz-Talavera, A., Mellid, S., Letón, R., Gil, E., Pérez-Martínez, M., Megías, D., Torres-Ruiz, R., Rodriguez-Perales, S., González, P., Caleiras, E., Jiménez-Villa, S., Roncador, G., Álvarez-Escolá, C., Regojo, R. M., Calatayud, M., Guadalix, S., Currás-Freixes, M., Rapizzi, E., Canu, L., Nölting, S., Remde, H., Fassnacht, M., Bechmann, N., Eisenhofer, G., Mannelli, M., Beuschlein, F., Quinkler, M., Rodríguez-Antona, C., Cascón, A., Blasco, M. A., Montero-Conde, C., & Robledo, M. (2021). Analysis of Telomere Maintenance Related Genes Reveals . Cancers, 13(19), . https://doi.org/10.3390/cancers13194758
Monteagudo, María, et al. "Analysis of Telomere Maintenance Related Genes Reveals ." Cancers vol. 13,19 (2021). doi: https://doi.org/10.3390/cancers13194758
Monteagudo M, Martínez P, Leandro-García LJ, Martínez-Montes ÁM, Calsina B, Pulgarín-Alfaro M, Díaz-Talavera A, Mellid S, Letón R, Gil E, Pérez-Martínez M, Megías D, Torres-Ruiz R, Rodriguez-Perales S, González P, Caleiras E, Jiménez-Villa S, Roncador G, Álvarez-Escolá C, Regojo RM, Calatayud M, Guadalix S, Currás-Freixes M, Rapizzi E, Canu L, Nölting S, Remde H, Fassnacht M, Bechmann N, Eisenhofer G, Mannelli M, Beuschlein F, Quinkler M, Rodríguez-Antona C, Cascón A, Blasco MA, Montero-Conde C, Robledo M. Analysis of Telomere Maintenance Related Genes Reveals . Cancers (Basel). 2021 Sep 23;13(19). doi: 10.3390/cancers13194758. PMID: 34638246; PMCID: PMC8507560.
Copy Download .nbib Format: NLM
A Novel Approach for the Identification of Pharmacogenetic Variants in .

Journal of clinical medicine

Lanillos J, Santos M, Carcajona M, Roldan-Romero JM, Martinez AM, Calsina B, Monteagudo M, Leandro-García LJ, Montero-Conde C, Cascón A, Maietta P, Alvarez S, Robledo M, Rodriguez-Antona C.
PMID: 32630724
J Clin Med. 2020 Jul 02;9(7). doi: 10.3390/jcm9072082.

Specific genetic variants in the mitochondrially encoded 12S ribosomal RNA gene (

Cite
Lanillos J, Santos M, Carcajona M, et al. A Novel Approach for the Identification of Pharmacogenetic Variants in . J Clin Med. 2020;9(7)doi: 10.3390/jcm9072082.
Lanillos, J., Santos, M., Carcajona, M., Roldan-Romero, J. M., Martinez, A. M., Calsina, B., Monteagudo, M., Leandro-García, L. J., Montero-Conde, C., Cascón, A., Maietta, P., Alvarez, S., Robledo, M., & Rodriguez-Antona, C. (2020). A Novel Approach for the Identification of Pharmacogenetic Variants in . Journal of clinical medicine, 9(7), . https://doi.org/10.3390/jcm9072082
Lanillos, Javier, et al. "A Novel Approach for the Identification of Pharmacogenetic Variants in ." Journal of clinical medicine vol. 9,7 (2020). doi: https://doi.org/10.3390/jcm9072082
Lanillos J, Santos M, Carcajona M, Roldan-Romero JM, Martinez AM, Calsina B, Monteagudo M, Leandro-García LJ, Montero-Conde C, Cascón A, Maietta P, Alvarez S, Robledo M, Rodriguez-Antona C. A Novel Approach for the Identification of Pharmacogenetic Variants in . J Clin Med. 2020 Jul 02;9(7). doi: 10.3390/jcm9072082. PMID: 32630724; PMCID: PMC7408883.
Copy Download .nbib Format: NLM
Polygenic risk modeling for prediction of epithelial ovarian cancer risk.

European journal of human genetics : EJHG

Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubiński J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP.
PMID: 35027648
Eur J Hum Genet. 2022 Jan 14; doi: 10.1038/s41431-021-00987-7. Epub 2022 Jan 14.

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented...

Cite
Dareng EO, Tyrer JP, Barnes DR, et al. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022;doi: 10.1038/s41431-021-00987-7.
Dareng, E. O., Tyrer, J. P., Barnes, D. R., Jones, M. R., Yang, X., Aben, K. K. H., Adank, M. A., Agata, S., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Aravantinos, G., Arun, B. K., Augustinsson, A., Balmaña, J., Bandera, E. V., Barkardottir, R. B., Barrowdale, D., Beckmann, M. W., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Bernardini, M. Q., Bjorge, L., Black, A., Bogdanova, N. V., Bonanni, B., Borg, A., Brenton, J. D., Budzilowska, A., Butzow, R., Buys, S. S., Cai, H., Caligo, M. A., Campbell, I., Cannioto, R., Cassingham, H., Chang-Claude, J., Chanock, S. J., Chen, K., Chiew, Y. E., Chung, W. K., Claes, K. B. M., Colonna, S., Cook, L. S., Couch, F. J., Daly, M. B., Dao, F., Davies, E., de la Hoya, M., de Putter, R., Dennis, J., DePersia, A., Devilee, P., Diez, O., Ding, Y. C., Doherty, J. A., Domchek, S. M., Dörk, T., du Bois, A., Dürst, M., Eccles, D. M., Eliassen, H. A., Engel, C., Evans, G. D., Fasching, P. A., Flanagan, J. M., Fortner, R. T., Machackova, E., Friedman, E., Ganz, P. A., Garber, J., Gensini, F., Giles, G. G., Glendon, G., Godwin, A. K., Goodman, M. T., Greene, M. H., Gronwald, J., Hahnen, E., Haiman, C. A., Håkansson, N., Hamann, U., Hansen, T. V. O., Harris, H. R., Hartman, M., Heitz, F., Hildebrandt, M. A. T., Høgdall, E., Høgdall, C. K., Hopper, J. L., Huang, R. Y., Huff, C., Hulick, P. J., Huntsman, D. G., Imyanitov, E. N., Isaacs, C., Jakubowska, A., James, P. A., Janavicius, R., Jensen, A., Johannsson, O. T., John, E. M., Jones, M. E., Kang, D., Karlan, B. Y., Karnezis, A., Kelemen, L. E., Khusnutdinova, E., Kiemeney, L. A., Kim, B. G., Kjaer, S. K., Komenaka, I., Kupryjanczyk, J., Kurian, A. W., Kwong, A., Lambrechts, D., Larson, M. C., Lazaro, C., Le, N. D., Leslie, G., Lester, J., Lesueur, F., Levine, D. A., Li, L., Li, J., Loud, J. T., Lu, K. H., Lubiński, J., Mai, P. L., Manoukian, S., Marks, J. R., Matsuno, R. K., Matsuo, K., May, T., McGuffog, L., McLaughlin, J. R., McNeish, I. A., Mebirouk, N., Menon, U., Miller, A., Milne, R. L., Minlikeeva, A., Modugno, F., Montagna, M., Moysich, K. B., Munro, E., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Yie, J. N. Y., Nielsen, H. R., Nielsen, F. C., Nikitina-Zake, L., Odunsi, K., Offit, K., Olah, E., Olbrecht, S., Olopade, O. I., Olson, S. H., Olsson, H., Osorio, A., Papi, L., Park, S. K., Parsons, M. T., Pathak, H., Pedersen, I. S., Peixoto, A., Pejovic, T., Perez-Segura, P., Permuth, J. B., Peshkin, B., Peterlongo, P., Piskorz, A., Prokofyeva, D., Radice, P., Rantala, J., Riggan, M. J., Risch, H. A., Rodriguez-Antona, C., Ross, E., Rossing, M. A., Runnebaum, I., Sandler, D. P., Santamariña, M., Soucy, P., Schmutzler, R. K., Setiawan, V. W., Shan, K., Sieh, W., Simard, J., Singer, C. F., Sokolenko, A. P., Song, H., Southey, M. C., Steed, H., Stoppa-Lyonnet, D., Sutphen, R., Swerdlow, A. J., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Terry, K. L., Terry, M. B., Thomassen, M., Thompson, P. J., Thomsen, L. C. V., Thull, D. L., Tischkowitz, M., Titus, L., Toland, A. E., Torres, D., Trabert, B., Travis, R., Tung, N., Tworoger, S. S., Valen, E., van Altena, A. M., van der Hout, A. H., Van Nieuwenhuysen, E., van Rensburg, E. J., Vega, A., Edwards, D. V., Vierkant, R. A., Wang, F., Wappenschmidt, B., Webb, P. M., Weinberg, C. R., Weitzel, J. N., Wentzensen, N., White, E., Whittemore, A. S., Winham, S. J., Wolk, A., Woo, Y. L., Wu, A. H., Yan, L., Yannoukakos, D., Zavaglia, K. M., Zheng, W., Ziogas, A., Zorn, K. K., Kleibl, Z., Easton, D., Lawrenson, K., DeFazio, A., Sellers, T. A., Ramus, S. J., Pearce, C. L., Monteiro, A. N., Cunningham, J., Goode, E. L., Schildkraut, J. M., Berchuck, A., Chenevix-Trench, G., Gayther, S. A., Antoniou, A. C., & Pharoah, P. D. P. (2022). Polygenic risk modeling for prediction of epithelial ovarian cancer risk. European journal of human genetics : EJHG, . https://doi.org/10.1038/s41431-021-00987-7
Dareng, Eileen O, et al. "Polygenic risk modeling for prediction of epithelial ovarian cancer risk." European journal of human genetics : EJHG vol. (2022). doi: https://doi.org/10.1038/s41431-021-00987-7
Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubiński J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 Jan 14; doi: 10.1038/s41431-021-00987-7. Epub 2022 Jan 14. PMID: 35027648.
Copy Download .nbib Format: NLM
Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.

Clinical pharmacology and therapeutics

McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG.
PMID: 34032273
Clin Pharmacol Ther. 2022 Feb;111(2):366-372. doi: 10.1002/cpt.2309. Epub 2021 Jun 20.

Aminoglycosides are widely used antibiotics with notable side effects, such as nephrotoxicity, vestibulotoxicity, and sensorineural hearing loss (cochleotoxicity). MT-RNR1 is a gene that encodes the 12s rRNA subunit and is the mitochondrial homologue of the prokaryotic 16s rRNA. Some...

Cite
McDermott JH, Wolf J, Hoshitsuki K, et al. Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clin Pharmacol Ther. 2021;111(2):366-372doi: 10.1002/cpt.2309.
McDermott, J. H., Wolf, J., Hoshitsuki, K., Huddart, R., Caudle, K. E., Whirl-Carrillo, M., Steyger, P. S., Smith, R. J. H., Cody, N., Rodriguez-Antona, C., Klein, T. E., & Newman, W. G. (2022). Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clinical pharmacology and therapeutics, 111(2), 366-372. https://doi.org/10.1002/cpt.2309
McDermott, John Henry, et al. "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype." Clinical pharmacology and therapeutics vol. 111,2 (2022): 366-372. doi: https://doi.org/10.1002/cpt.2309
McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG. Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clin Pharmacol Ther. 2022 Feb;111(2):366-372. doi: 10.1002/cpt.2309. Epub 2021 Jun 20. PMID: 34032273; PMCID: PMC8613315.
Copy Download .nbib Format: NLM
Overexpression of miR-483-5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma.

Clinical and translational medicine

Castro-Vega LJ, Calsina B, Burnichon N, Drossart T, Martínez-Montes ÁM, Verkarre V, Amar L, Bertherat J, Rodríguez-Antona C, Favier J, Robledo M, Gimenez-Roqueplo AP.
PMID: 33377638
Clin Transl Med. 2020 Dec;10(8):e260. doi: 10.1002/ctm2.260.

No abstract available.

Cite
Castro-Vega LJ, Calsina B, Burnichon N, et al. Overexpression of miR-483-5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma. Clin Transl Med. 2020;10(8):e260doi: 10.1002/ctm2.260.
Castro-Vega, L. J., Calsina, B., Burnichon, N., Drossart, T., Martínez-Montes, �. �. M., Verkarre, V., Amar, L., Bertherat, J., Rodríguez-Antona, C., Favier, J., Robledo, M., & Gimenez-Roqueplo, A. P. (2020). Overexpression of miR-483-5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma. Clinical and translational medicine, 10(8), e260. https://doi.org/10.1002/ctm2.260
Castro-Vega, Luis Jaime, et al. "Overexpression of miR-483-5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma." Clinical and translational medicine vol. 10,8 (2020): e260. doi: https://doi.org/10.1002/ctm2.260
Castro-Vega LJ, Calsina B, Burnichon N, Drossart T, Martínez-Montes ÁM, Verkarre V, Amar L, Bertherat J, Rodríguez-Antona C, Favier J, Robledo M, Gimenez-Roqueplo AP. Overexpression of miR-483-5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma. Clin Transl Med. 2020 Dec;10(8):e260. doi: 10.1002/ctm2.260. PMID: 33377638; PMCID: PMC7752161.
Copy Download .nbib Format: NLM
MicroRNAs Targeting HIF-2α, VEGFR1 and/or VEGFR2 as Potential Predictive Biomarkers for VEGFR Tyrosine Kinase and HIF-2α Inhibitors in Metastatic Clear-Cell Renal Cell Carcinoma.

Cancers

Kinget L, Roussel E, Verbiest A, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Zucman-Rossi J, Couchy G, Job S, de Reyniès A, Laenen A, Baldewijns M, Beuselinck B.
PMID: 34205829
Cancers (Basel). 2021 Jun 21;13(12). doi: 10.3390/cancers13123099.

Metastatic clear-cell renal cell carcinoma (m-ccRCC) is characterized by increased hypoxia-induced factor (HIF)-2α and vascular endothelial growth factor receptor (VEGFR)-dependent angiogenesis through loss of function of the von Hippel-Lindau protein. VEGFR tyrosine kinase inhibitors (VEGFR-TKIs) are a cornerstone of...

Cite
Kinget L, Roussel E, Verbiest A, et al. MicroRNAs Targeting HIF-2α, VEGFR1 and/or VEGFR2 as Potential Predictive Biomarkers for VEGFR Tyrosine Kinase and HIF-2α Inhibitors in Metastatic Clear-Cell Renal Cell Carcinoma. Cancers (Basel). 2021;13(12)doi: 10.3390/cancers13123099.
Kinget, L., Roussel, E., Verbiest, A., Albersen, M., Rodríguez-Antona, C., Graña-Castro, O., Inglada-Pérez, L., Zucman-Rossi, J., Couchy, G., Job, S., de Reyniès, A., Laenen, A., Baldewijns, M., & Beuselinck, B. (2021). MicroRNAs Targeting HIF-2α, VEGFR1 and/or VEGFR2 as Potential Predictive Biomarkers for VEGFR Tyrosine Kinase and HIF-2α Inhibitors in Metastatic Clear-Cell Renal Cell Carcinoma. Cancers, 13(12), . https://doi.org/10.3390/cancers13123099
Kinget, Lisa, et al. "MicroRNAs Targeting HIF-2α, VEGFR1 and/or VEGFR2 as Potential Predictive Biomarkers for VEGFR Tyrosine Kinase and HIF-2α Inhibitors in Metastatic Clear-Cell Renal Cell Carcinoma." Cancers vol. 13,12 (2021). doi: https://doi.org/10.3390/cancers13123099
Kinget L, Roussel E, Verbiest A, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Zucman-Rossi J, Couchy G, Job S, de Reyniès A, Laenen A, Baldewijns M, Beuselinck B. MicroRNAs Targeting HIF-2α, VEGFR1 and/or VEGFR2 as Potential Predictive Biomarkers for VEGFR Tyrosine Kinase and HIF-2α Inhibitors in Metastatic Clear-Cell Renal Cell Carcinoma. Cancers (Basel). 2021 Jun 21;13(12). doi: 10.3390/cancers13123099. PMID: 34205829; PMCID: PMC8235409.
Copy Download .nbib Format: NLM
Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates.

Biomedicines

Saiz-Rodríguez M, Almenara S, Navares-Gómez M, Ochoa D, Román M, Zubiaur P, Koller D, Santos M, Mejía G, Borobia AM, Rodríguez-Antona C, Abad-Santos F.
PMID: 32331352
Biomedicines. 2020 Apr 22;8(4). doi: 10.3390/biomedicines8040094.

Several cytochrome P450 (CYP) CYP3A polymorphisms were associated with reduced enzyme function. We aimed to evaluate the influence of these alleles on the pharmacokinetic parameters (PK) of several CYP3A substrates. We included 251 healthy volunteers who received a single...

Cite
Saiz-Rodríguez M, Almenara S, Navares-Gómez M, et al. Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates. Biomedicines. 2020;8(4)doi: 10.3390/biomedicines8040094.
Saiz-Rodríguez, M., Almenara, S., Navares-Gómez, M., Ochoa, D., Román, M., Zubiaur, P., Koller, D., Santos, M., Mejía, G., Borobia, A. M., Rodríguez-Antona, C., & Abad-Santos, F. (2020). Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates. Biomedicines, 8(4), . https://doi.org/10.3390/biomedicines8040094
Saiz-Rodríguez, Miriam, et al. "Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates." Biomedicines vol. 8,4 (2020). doi: https://doi.org/10.3390/biomedicines8040094
Saiz-Rodríguez M, Almenara S, Navares-Gómez M, Ochoa D, Román M, Zubiaur P, Koller D, Santos M, Mejía G, Borobia AM, Rodríguez-Antona C, Abad-Santos F. Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates. Biomedicines. 2020 Apr 22;8(4). doi: 10.3390/biomedicines8040094. PMID: 32331352; PMCID: PMC7235792.
Copy Download .nbib Format: NLM
MicroRNAs Possibly Involved in the Development of Bone Metastasis in Clear-Cell Renal Cell Carcinoma.

Cancers

Kinget L, Roussel E, Lambrechts D, Boeckx B, Vanginderhuysen L, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Verbiest A, Zucman-Rossi J, Couchy G, Caruso S, Laenen A, Baldewijns M, Beuselinck B.
PMID: 33800656
Cancers (Basel). 2021 Mar 28;13(7). doi: 10.3390/cancers13071554.

Bone metastasis in clear-cell renal cell carcinoma (ccRCC) leads to substantial morbidity through skeletal related adverse events and implicates worse clinical outcomes. MicroRNAs (miRNA) are small non-protein coding RNA molecules with important regulatory functions in cancer development and metastasis....

Cite
Kinget L, Roussel E, Lambrechts D, et al. MicroRNAs Possibly Involved in the Development of Bone Metastasis in Clear-Cell Renal Cell Carcinoma. Cancers (Basel). 2021;13(7)doi: 10.3390/cancers13071554.
Kinget, L., Roussel, E., Lambrechts, D., Boeckx, B., Vanginderhuysen, L., Albersen, M., Rodríguez-Antona, C., Graña-Castro, O., Inglada-Pérez, L., Verbiest, A., Zucman-Rossi, J., Couchy, G., Caruso, S., Laenen, A., Baldewijns, M., & Beuselinck, B. (2021). MicroRNAs Possibly Involved in the Development of Bone Metastasis in Clear-Cell Renal Cell Carcinoma. Cancers, 13(7), . https://doi.org/10.3390/cancers13071554
Kinget, Lisa, et al. "MicroRNAs Possibly Involved in the Development of Bone Metastasis in Clear-Cell Renal Cell Carcinoma." Cancers vol. 13,7 (2021). doi: https://doi.org/10.3390/cancers13071554
Kinget L, Roussel E, Lambrechts D, Boeckx B, Vanginderhuysen L, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Verbiest A, Zucman-Rossi J, Couchy G, Caruso S, Laenen A, Baldewijns M, Beuselinck B. MicroRNAs Possibly Involved in the Development of Bone Metastasis in Clear-Cell Renal Cell Carcinoma. Cancers (Basel). 2021 Mar 28;13(7). doi: 10.3390/cancers13071554. PMID: 33800656; PMCID: PMC8036650.
Copy Download .nbib Format: NLM
Sunitinib and Evofosfamide (TH-302) in Systemic Treatment-Naïve Patients with Grade 1/2 Metastatic Pancreatic Neuroendocrine Tumors: The GETNE-1408 Trial.

The oncologist

Grande E, Rodriguez-Antona C, López C, Alonso-Gordoa T, Benavent M, Capdevila J, Teulé A, Custodio A, Sevilla I, Hernando J, Gajate P, Molina-Cerrillo J, Díez JJ, Santos M, Lanillos J, García-Carbonero R.
PMID: 34190375
Oncologist. 2021 Nov;26(11):941-949. doi: 10.1002/onco.13885. Epub 2021 Jul 14.

BACKGROUND: Sunitinib (SUN)-induced hypoxia within the tumor could promote the activation of the prodrug evofosfamide (EVO), locally releasing the cytotoxic DNA alkylator bromo-isophosphoramide mustard. SUNEVO, a phase II, open-label, single-arm trial, investigated the potential synergy of SUN plus EVO...

Cite
Grande E, Rodriguez-Antona C, López C, et al. Sunitinib and Evofosfamide (TH-302) in Systemic Treatment-Naïve Patients with Grade 1/2 Metastatic Pancreatic Neuroendocrine Tumors: The GETNE-1408 Trial. Oncologist. 2021;26(11):941-949doi: 10.1002/onco.13885.
Grande, E., Rodriguez-Antona, C., López, C., Alonso-Gordoa, T., Benavent, M., Capdevila, J., Teulé, A., Custodio, A., Sevilla, I., Hernando, J., Gajate, P., Molina-Cerrillo, J., Díez, J. J., Santos, M., Lanillos, J., & García-Carbonero, R. (2021). Sunitinib and Evofosfamide (TH-302) in Systemic Treatment-Naïve Patients with Grade 1/2 Metastatic Pancreatic Neuroendocrine Tumors: The GETNE-1408 Trial. The oncologist, 26(11), 941-949. https://doi.org/10.1002/onco.13885
Grande, Enrique, et al. "Sunitinib and Evofosfamide (TH-302) in Systemic Treatment-Naïve Patients with Grade 1/2 Metastatic Pancreatic Neuroendocrine Tumors: The GETNE-1408 Trial." The oncologist vol. 26,11 (2021): 941-949. doi: https://doi.org/10.1002/onco.13885
Grande E, Rodriguez-Antona C, López C, Alonso-Gordoa T, Benavent M, Capdevila J, Teulé A, Custodio A, Sevilla I, Hernando J, Gajate P, Molina-Cerrillo J, Díez JJ, Santos M, Lanillos J, García-Carbonero R. Sunitinib and Evofosfamide (TH-302) in Systemic Treatment-Naïve Patients with Grade 1/2 Metastatic Pancreatic Neuroendocrine Tumors: The GETNE-1408 Trial. Oncologist. 2021 Nov;26(11):941-949. doi: 10.1002/onco.13885. Epub 2021 Jul 14. PMID: 34190375; PMCID: PMC8571752.
Copy Download .nbib Format: NLM
Prognostic and Predictive Value of .

Cancers

Carril-Ajuria L, Santos M, Roldán-Romero JM, Rodriguez-Antona C, de Velasco G.
PMID: 31861590
Cancers (Basel). 2019 Dec 19;12(1). doi: 10.3390/cancers12010016.

Renal cell carcinoma (RCC) is the most frequent kidney solid tumor, the clear cell RCC (ccRCC) being the major histological subtype. The probability of recurrence and the clinical behavior of ccRCC will greatly depend on the different clinical and...

Cite
Carril-Ajuria L, Santos M, Roldán-Romero JM, et al. Prognostic and Predictive Value of . Cancers (Basel). 2019;12(1)doi: 10.3390/cancers12010016.
Carril-Ajuria, L., Santos, M., Roldán-Romero, J. M., Rodriguez-Antona, C., & de Velasco, G. (2019). Prognostic and Predictive Value of . Cancers, 12(1), . https://doi.org/10.3390/cancers12010016
Carril-Ajuria, Lucía, et al. "Prognostic and Predictive Value of ." Cancers vol. 12,1 (2019). doi: https://doi.org/10.3390/cancers12010016
Carril-Ajuria L, Santos M, Roldán-Romero JM, Rodriguez-Antona C, de Velasco G. Prognostic and Predictive Value of . Cancers (Basel). 2019 Dec 19;12(1). doi: 10.3390/cancers12010016. PMID: 31861590; PMCID: PMC7016957.
Copy Download .nbib Format: NLM
Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype.

Clinical pharmacology and therapeutics

McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG.
PMID: 34032273
Clin Pharmacol Ther. 2021 May 25; doi: 10.1002/cpt.2309. Epub 2021 May 25.

Aminoglycosides are widely used antibiotics with notable side effects, such as nephrotoxicity, vestibulotoxicity, and sensorineural hearing loss (cochleotoxicity). MT-RNR1 is a gene that encodes the 12s rRNA subunit and is the mitochondrial homologue of the prokaryotic 16s rRNA. Some...

Cite
McDermott JH, Wolf J, Hoshitsuki K, et al. Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clin Pharmacol Ther. 2021;doi: 10.1002/cpt.2309.
McDermott, J. H., Wolf, J., Hoshitsuki, K., Huddart, R., Caudle, K. E., Whirl-Carrillo, M., Steyger, P. S., Smith, R. J. H., Cody, N., Rodriguez-Antona, C., Klein, T. E., & Newman, W. G. (2021). Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clinical pharmacology and therapeutics, . https://doi.org/10.1002/cpt.2309
McDermott, John Henry, et al. "Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype." Clinical pharmacology and therapeutics vol. (2021). doi: https://doi.org/10.1002/cpt.2309
McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG. Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clin Pharmacol Ther. 2021 May 25; doi: 10.1002/cpt.2309. Epub 2021 May 25. PMID: 34032273; PMCID: PMC8613315.
Copy Download .nbib Format: NLM
Showing 1 to 12 of 19 entries