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5. P1576Association of colorectal cancer with genetic and epigenetic variation in PEAR1 - a population-based cohort study

Author

Yang, W.-Y, primary, Izzi, B, additional, Zhang, Z.-Y, additional, Thijs, L, additional, Citterio, L, additional, Wei, F.-F, additional, Salvi, E, additional, Delli Carpini, S, additional, Manuta, P, additional, Kuznetsova, T, additional, Cusi, D, additional, Hoylaerts, M F, additional, Luttun, A, additional, Verhamme, P, additional, and Staessen, J A, additional

Published
2019
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6. PHARMACOGENOMICS OF HYPERTENSION

Author

Maggioni, C., primary, Lanzani, C., additional, Citterio, L., additional, Catena, C., additional, Bigazzi, R., additional, Delli Carpini, S., additional, and Manunta, P., additional

Published
2019
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7. PRECISION MEDICINE

Author

Cuka, E., primary, Lanzani, C., additional, Simonini, M., additional, Zagato, L., additional, Citterio, L., additional, Brioni, E., additional, Hamlyn, J.M., additional, Delli Carpini, S., additional, and Manunta, P., additional

Published
2019
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9. Ipertensione nei pazienti in emodialisi: metodiche dialitiche e regolazione ormonale (ouabaina endogena, peptide natriuretico di tipo B)

Author

GATTI G, QUERQUES M, LANZANI C, SIMONINI M, POZZOLI S, TENTORI S, JACARICOVA M, BRIONI E, ZAGATO L, CITTERIO L, MESSAGGIO E, DELLI CARPINI S, CASAMASSIMA N, ARCIDIACONO T, SCIARRONE ALIBRANDI MT, QUARTAGNO R, MELANDRI M, SLAVIERO G, SPOTTI D, MANUNTA , PAOLO, Gatti, G, Querques, M, Lanzani, C, Simonini, M, Pozzoli, S, Tentori, S, Jacaricova, M, Brioni, E, Zagato, L, Citterio, L, Messaggio, E, DELLI CARPINI, S, Casamassima, N, Arcidiacono, T, SCIARRONE ALIBRANDI, Mt, Quartagno, R, Melandri, M, Slaviero, G, Spotti, D, and Manunta, Paolo

Published
2015

11. Hypertension in hemodialysis patients: dialysis techniques and hormonal regulation

Author

GATTI G, LANZANI C, SIMONINI M, POZZOLI S, TENTORI S, BRIONI E, CITTERIO L, MESSAGGIO E, DELLI CARPINI S, CASAMASSIMA N, ARCIDIACONO T, SCIARRONE ALIBRANDI MT, QUARTAGNO R, MELANDRI M, SLAVIERO G, SPOTTI D, MANUNTA , PAOLO, Gatti, G, Lanzani, C, Simonini, M, Pozzoli, S, Tentori, S, Brioni, E, Citterio, L, Messaggio, E, DELLI CARPINI, S, Casamassima, N, Arcidiacono, T, SCIARRONE ALIBRANDI, Mt, Quartagno, R, Melandri, M, Slaviero, G, Spotti, D, and Manunta, Paolo

Published
2015

14. UMOD gene in salt sensitivity: a new pathogenetic mechanism

Author

LANZANI C, GATTI G, RAMPOLDI L, DELLI CARPINI S, TRUDU M, SIMONINI M, CITTERIO L, ZAGATO L, MANUNTA , PAOLO, Lanzani, C, Gatti, G, Rampoldi, L, DELLI CARPINI, S, Trudu, M, Simonini, M, Citterio, L, Zagato, L, and Manunta, Paolo

Published
2013

15. Protein kinase, CGMP-dependent, type I polymorphisms underlie cardio-renal impairment

Author

CITTERIO L, KUZNETSOVA T, FERRANDI M, DELLI CARPINI S, MOLINARI I, ZAGATO L, THIJS L, THIJS D, CASAMASSIMA N, BIANCHI G, STAESSEN JA, MANUNTA , PAOLO, Citterio, L, Kuznetsova, T, Ferrandi, M, DELLI CARPINI, S, Molinari, I, Zagato, L, Thijs, L, Thijs, D, Casamassima, N, Bianchi, G, Staessen, Ja, and Manunta, Paolo

Published
2013

16. UNMOD gene in salt sensitivity: a new pathogenetic mechanism

Author

Gatti G, Lanzani C, Rampoldi L, Binaggia A, Delli Carpini S, Trudu M, Simonini M, Dell’Antonio G, Ferrandi M, Citterio L, Zagato L, MANUNTA , PAOLO, Gatti, G, Lanzani, C, Rampoldi, L, Binaggia, A, Delli Carpini, S, Trudu, M, Simonini, M, Dell’Antonio, G, Ferrandi, M, Citterio, L, Zagato, L, and Manunta, Paolo

Published
2012

17. UMOD gene polymorphisms affect GFR decay in ADPKD

Author

Sciarrone Alibrandi MT, Nuzzo M, Delli Carpini S, Merlino L, Brioni E, Zagato L, Simonini M, Rivera RF, MANUNTA , PAOLO, Sciarrone Alibrandi, Mt, Nuzzo, M, Delli Carpini, S, Merlino, L, Brioni, E, Zagato, L, Simonini, M, Rivera, Rf, and Manunta, Paolo

Published
2012

19. Genetic impact on renal function decay in radical and partial nephrectomy

Author

Sciarrone Alibrandi MT, Trevisani F, Delli Carpini S, Simonini M, Camerota T, Merlino L, Zagato L, Brioni E, Bertini R, MONTORSI, FRANCESCO, Rigatti P, MANUNTA , PAOLO, Sciarrone Alibrandi, Mt, Trevisani, F, Delli Carpini, S, Simonini, M, Camerota, T, Merlino, L, Zagato, L, Brioni, E, Bertini, R, Montorsi, Francesco, Rigatti, P, and Manunta, Paolo

Published
2012

22. Ruolo del gene dell’alfa-adducina nella ristenosi delle arterie renali

Author

Botticelli I, Quartagno R, Venturini M, Salvioni M, Lanzani C, Simonini M, Delli Carpini S, Spotti D, Zagato L, MANUNTA , PAOLO, Botticelli, I, Quartagno, R, Venturini, M, Salvioni, M, Lanzani, C, Simonini, M, Delli Carpini, S, Spotti, D, Zagato, L, and Manunta, Paolo

Published
2011

27. Physiological interaction between ADD1 and WNK1-NEDD4L pathways on sodium related blood pressure regulation

Author

MANUNTA , PAOLO, LAVERY G, LANZANI C, BRAUND PS, SIMONINI M, BODYCODE C, ZAGATO L, DELLI CARPINI S, TANTARDINI C, BRIONI E, BIANCHI G, SAMANI NJ, Manunta, Paolo, Lavery, G, Lanzani, C, Braund, P, Simonini, M, Bodycode, C, Zagato, L, DELLI CARPINI, S, Tantardini, C, Brioni, E, Bianchi, G, and Samani, Nj

Abstract

The kidney plays an important role in salt and blood pressure (BP) homeostasis. In previous studies, variants in the genes for alpha-adducin (ADD1), WNK1, and NEDD4L, which all regulate renal sodium absorption, have been associated with increased BP. However, findings have been inconsistent. We tested whether this is because of physiological interactions between the effects of variants in these genes. We assessed the single and combined effects of the ADD1 (Gly460Trp), WNK1 (rs880054 A/G), and NEDD4L (rs4149601 G/A) polymorphisms on renal and BP response to an acute Na load (n344 subjects), BP decrease after 1 month of treatment with 12.5 mg of hydrochlorothiazide (n=193), and ambulatory 24-hour BP (n=690). Individually, the variants showed modest effects on some of the studied phenotypes. We found the ADD1 Trp allele to be permissive for the effects of variants of the other genes. In combination, the same variants (ADD1 Trp/WNK1 GG/Nedd4L GA+AA) showed a consistent effect on renal Na handling (P=0.009) and acute BP response to a saline infusion (P=0.021), BP lowering after thiazide treatment (P=0.008), and nocturnal systolic BP (P=0.044). Physiological interaction between the ADD1 and WNK1-NEDD4L pathways influences the effects of variants in these genes on sodium-related BP regulation. Relatively common alleles in the ADD1, WNK1, and NEDD4L genes when present in combination may have significant effects on renal sodium handling, BP, and antihypertensive response to thiazides.

Published
2008

30. Cell signalling

Author

Tsuchiya, K., primary, Shiohira, S., additional, Sugiura, H., additional, Suzuki, M., additional, Okano, K., additional, Nitta, K., additional, Kaesler, N., additional, Immendorf, S., additional, Ouyang, C., additional, Carmeliet, P., additional, Floege, J., additional, Kruger, T., additional, Schlieper, G., additional, Georgescu, A., additional, Kalucka, J., additional, Olbrich, S., additional, Baumgartl, J., additional, Hackenbeck, T., additional, Eckardt, K.-U., additional, Weidemann, A., additional, Chmielewski, S., additional, Olejnik, A., additional, Sikorski, K., additional, Heemann, U., additional, Wesoly, J., additional, Bluyssen, H., additional, Baumann, M., additional, Mekahli, D., additional, Decuypere, J.-P., additional, Missiaen, L., additional, Levtchenko, E., additional, De Smedt, H., additional, Stasi, A., additional, Castellano, G., additional, Gigante, M., additional, Intini, A., additional, Pontrelli, P., additional, Divella, C., additional, Curci, C., additional, Grandaliano, G., additional, Gesualdo, L., additional, Vizza, D., additional, Perri, A., additional, Lofaro, D., additional, Toteda, P., additional, Lupinacci, S., additional, Leone, F., additional, Gigliotti, P., additional, Papalia, T., additional, Bonofiglio, R., additional, Vatazin, A. V., additional, Astakhov, P. V., additional, Zulkarnaev, A. B., additional, Parodi, E., additional, Verzola, D., additional, D'Amato, E., additional, Viazzi, F., additional, Gonnella, A., additional, Garneri, D., additional, Pontremoli, R., additional, Garibotto, G., additional, Chen, T.-H., additional, Chen, C.-H., additional, Chen, Y.-C., additional, Sue, Y.-M., additional, Cheng, C.-Y., additional, Guiying, L., additional, Ying, L., additional, Pozzoli, S., additional, Lino, M., additional, Delli Carpini, S., additional, Ferrandi, M., additional, Zerbini, G., additional, Simonini, M., additional, Zagato, L., additional, Molinari, I., additional, Citterio, L., additional, Manunta, P., additional, Feng, X., additional, Pan, X., additional, Wang, W., additional, Chen, N., additional, Chen, Y.-x., additional, Wang, W.-M., additional, Tanaka, S., additional, Yano, S., additional, Sugimoto, T., additional, Noh, H., additional, Yu, M. R., additional, Kim, H. J., additional, Woo, S. A., additional, Cho, Y. J., additional, Kwon, S. H., additional, Jeon, J. S., additional, Han, D. C., additional, Shimizu, H., additional, Yisireyili, M., additional, Nishijima, F., additional, Niwa, T., additional, Koh, E. S., additional, Chung, S., additional, Kim, S. J., additional, Yoon, H. E., additional, Park, C. W., additional, Chang, Y. S., additional, Shin, S. J., additional, Seong, E. Y., additional, Rhee, H., additional, Shin, M. J., additional, Yang, B. Y., additional, Jung, Y. S., additional, Lee, D. W., additional, Lee, S. B., additional, Kwak, I. S., additional, Kim, I. Y., additional, Sancho-Martinez, S. M., additional, Prieto-Garcia, L., additional, Lopez-Hernandez, F. J., additional, Lopez-Novoa, J. M., additional, Bae, E. H., additional, Choi, H. S., additional, Joo, S. Y., additional, Kim, I. J., additional, Kim, C. S., additional, Choi, J. S., additional, Ma, S. K., additional, Lee, J., additional, Kim, S. W., additional, Humanes, B., additional, Sonia, C., additional, Jado, J., additional, Mojena, M., additional, Lara, J., additional, Alvarez-Sala, L., additional, Tejedor, A., additional, Lazaro, A., additional, Wada, Y., additional, Iyoda, M., additional, Matsumoto, K., additional, Shindo-Hirai, Y., additional, Kuno, Y., additional, Yamamoto, Y., additional, Suzuki, T., additional, Shibata, T., additional, Akizawa, T., additional, Faubel, S., additional, Edelstein, C. L., additional, Cano Penalver, J. L., additional, de Frutos Garcia, S., additional, Griera Merino, M., additional, Luengo Rodriguez, A., additional, Garcia Jerez, A., additional, Bohorquez Magro, L., additional, Medrano, D., additional, Calleros Basilio, L., additional, Rodriguez Puyol, M., additional, Thilo, F., additional, Liu, Y., additional, Tepel, M., additional, Hsu, H.-H., additional, Chen, K.-H., additional, Hung, C.-C., additional, Yang, C.-W., additional, Endlich, N., additional, Lin, J.-L., additional, Pavenstadt, H., additional, Rodrigues Diez, R. R., additional, Mezzano, S., additional, Ruiz-Ortega, M., additional, Rodrigues Diez, R., additional, Lavoz, C., additional, Nakayama, Y., additional, Fukami, K., additional, Yamagishi, S.-i., additional, Obara, N., additional, Yokoro, M., additional, Ando, R., additional, Kaida, Y., additional, Toyonaga, M., additional, Kaifu, K., additional, Takeuchi, M., additional, Ueda, S., additional, Okuda, S., additional, Daenen, K., additional, Hoylaerts, M. F., additional, Bammens, B., additional, Liu, J., additional, Zhong, F., additional, Dai, Q., additional, Xu, L., additional, Zaravinos, A., additional, and Deltas, C. C., additional

Published
2013
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31. Sodium in kidney failure patients: new open questions

Author

Lanzani, C., primary, Simonini, M., additional, Brioni, E., additional, Delli Carpini, S., additional, Citterio, L., additional, Zagato, L., additional, Tentori, S., additional, Manunta, P., additional, Olszynski, K. H., additional, Sadowski, J., additional, Rafalowska, J., additional, and Kompanowska-Jezierska, E., additional

Published
2013
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32. Renal development and cystic diseases

Author

Cornec-Le Gall, E., primary, Treguer, L., additional, Sawadogo, T., additional, Benarbia, S., additional, Le Meur, Y., additional, Zittema, D., additional, van den Berg, E., additional, Meijer, E., additional, Boertien, W. E., additional, Muller Kobold, A. C., additional, Franssen, C. F. M., additional, de Jong, P. E., additional, Bakker, S. J. L., additional, Navis, G. J., additional, Gansevoort, R. T., additional, Melemadathil, S., additional, Kamal, M., additional, Tuta, L., additional, Botea, F., additional, Sciarrone Alibrandi, M. T., additional, Nuzzo, M., additional, Delli Carpini, S., additional, Merlino, L., additional, Brioni, E., additional, Zagato, L., additional, Simonini, M., additional, Rivera, R., additional, Manunta, P., additional, Park, H. C., additional, Kim, H., additional, Koo, T. Y., additional, Han, M., additional, Park, Y. J., additional, Oh, K.-H., additional, Noh, J. W., additional, Ha, I. S., additional, Cheong, H. I., additional, Hwang, Y.-H., additional, Ahn, C., additional, Lacquaniti, A., additional, Buemi, M., additional, Lupica, R., additional, Lucisano, S., additional, Chirico, V., additional, Ozucer, B., additional, KazancIoglu, R., additional, Ozturk, B., additional, Alay, M., additional, Veyseller, B., additional, Ozturan, O., additional, Erkoc, R., additional, Obeidova, L., additional, Stekrova, J., additional, Reiterova, J., additional, Elisakova, V., additional, Merta, M., additional, Kohoutova, M., additional, Tesar, V., additional, Gul, B., additional, Cekic, S., additional, Asiltas, B., additional, Dogan, S., additional, Aktas, N., additional, Oruc, A., additional, Dogan, I., additional, Ersoy, A., additional, Gullulu, M., additional, Yurtkuran, M., additional, and Yildiz, A., additional

Published
2013
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34. Pathophysiology and clinical studies in CKD 1-5.

Author

El Sharkawy, M., primary, Elsaeed, K., additional, Kamel, M., additional, Aziz, A., additional, Del Pozo, C., additional, Balk, A., additional, Castello-Banyuls, J., additional, Navarro, D., additional, Pere, B., additional, Faura, C. C., additional, Ballesta, J. J., additional, Rodig, N., additional, Vilalta, R., additional, Hernandez, J., additional, Camacho Diaz, J., additional, Lapeyraque, A.- L., additional, Sherwinter, J., additional, Gruppo, R., additional, Fremont, O., additional, Baudouin, V., additional, Langman, C., additional, Simonetti, G. D., additional, Loirat, C., additional, Muus, P., additional, Legendre, C., additional, Douglas, K., additional, Hourmant, M., additional, Delmas, Y., additional, Herthelius, M., additional, Trivelli, A., additional, Goodship, T., additional, Bedrosian, C., additional, Licht, C., additional, Schlesinger, N., additional, Lin, H.- Y., additional, De Meulemeester, M., additional, Rovensky, J., additional, Krammer, G., additional, Balfour, A., additional, So, A., additional, Carrero, J. J., additional, Sonmez, A., additional, Saglam, M., additional, Stenvinkel, P., additional, Yaman, H., additional, Quresi, A. R., additional, Yenicesu, M., additional, Yilmaz, M. I., additional, McQuarrie, E., additional, Freel, M., additional, Mark, P., additional, Patel, R., additional, Steedman, T., additional, Fraser, R., additional, Dargie, H., additional, Connell, J., additional, Jardine, A., additional, Oh, S. W., additional, Chin, H. J., additional, Na, K. Y., additional, Chae, D. W., additional, Alfieri, C., additional, Vettoretti, S., additional, Cafforio, C., additional, Floreani, R., additional, Bonanomi, C., additional, Danzi, G., additional, Messa, P., additional, Whelton, A., additional, MacDonald, P., additional, Hunt, B., additional, Gunawardhana, L., additional, Rusu, E., additional, Voiculescu, M., additional, Zilisteanu, D., additional, Ecobici, M., additional, Arsenescu, I., additional, Ismail, G., additional, Macarie, C., additional, Chan, D., additional, Irish, A., additional, Watts, G., additional, Dogra, G., additional, Krueger, T., additional, Schlieper, G., additional, Cozzolino, M., additional, Eckardt, K. U., additional, Jadoul, M., additional, Ketteler, M., additional, Leunissen, K., additional, Rump, L. C., additional, Wiecek, A., additional, Westenfeld, R., additional, Hilgers, R. D., additional, Mahnken, A. H., additional, Schurgers, L. J., additional, Floege, J., additional, Onuigbo, M., additional, Onuigbo, N., additional, Trevisani, F., additional, Sciarrone Alibrandi, M. T., additional, Bertini, R., additional, Montorsi, F., additional, Delli Carpini, S., additional, Camerota, T. C., additional, Antoniolli, S., additional, Citterio, L., additional, Querques, M., additional, Merlino, L., additional, Manunta, P., additional, Ebah, L., additional, Morgan, J., additional, Brenchley, P., additional, Mitra, S., additional, Krumme, B., additional, Boehler, J., additional, Mettang, T., additional, Strutz, F., additional, Georginova, O., additional, Rykova, S., additional, Gafarova, M., additional, Smyr, K., additional, Sokolova, I., additional, Krasnova, T., additional, and Kozlovskaya, L., additional

Published
2011
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38. Hypertension & hormones

Author

Jankowski, V., primary, Patzak, A., additional, Herget-Rosenthal, S., additional, Zidek, W., additional, Jankowski, J., additional, Jankowski, V., additional, Toelle, M., additional, van der Giet, M., additional, Bae, E. H., additional, Ma, S. K., additional, Lee, J., additional, Kim, S. W., additional, Jin, K., additional, Kim, H.-j., additional, Vaziri, N. D., additional, Osaki, K., additional, Suzuki, Y., additional, Sugaya, T., additional, Nishiyama, A., additional, Horikoshi, S., additional, Tomino, Y., additional, Matthesen, S. K., additional, Gjoerup, P. H., additional, Larsen, T., additional, Lauridsen, T. G., additional, Nykjaer, K. M., additional, Vase, H., additional, Pedersen, E. B., additional, Kim, Y. W., additional, Fujimori, A., additional, Yuyama, H., additional, Takakura, K., additional, Tahara, A., additional, Koakutsu, A., additional, Sanagi, M., additional, Sudoh, K., additional, Terada, Y., additional, Mizukami, K., additional, Miura, M., additional, Yokoyama, K., additional, Amano, Y., additional, Furukawa, T., additional, Tomura, Y., additional, Uchida, W., additional, Walkowska, A., additional, Kompanowska-Jezierska, E., additional, Sadowki, J., additional, Ozdemir, Z. N., additional, Sener, G., additional, Ozgur, S., additional, Koc, M., additional, Suleymanoglu, S., additional, Yegen, B., additional, Efrati, S., additional, Berman, S., additional, Abu-Hamad, R., additional, Siman-Tov, Y., additional, Weissgarten, J., additional, Hermida, R. C., additional, Ayala, D. E., additional, Mojon, A., additional, Chayan, L., additional, Dominguez, M. J., additional, Fontao, M. J., additional, Alonso, I., additional, Fernandez, J. R., additional, Zanoli, L., additional, Alivon, M., additional, Estrugo, N., additional, Ketthab, H., additional, Pruny, J.-F., additional, Yanes, S., additional, Bean, K., additional, Empana, J.-P., additional, Jouven, X., additional, Laude, R. D., additional, Laurent, S., additional, Boutouyrie, P., additional, Botticelli, I., additional, Quartagno, R., additional, Venturini, M., additional, Salvioni, M., additional, Lanzani, C., additional, Simonini, M., additional, Delli Carpini, S., additional, Zagato, L., additional, Manunta, P., additional, Blazquez-Medela, A. M., additional, Garcia-Ortiz, L., additional, Gomez-Marcos, M. A., additional, Recio-Rodriguez, J. I., additional, Martin-Hinojal, M., additional, Rodriguez-Martin, C., additional, Castano-Sanchez, C., additional, de Cabo-Laso, A., additional, Sanchez-Salgado, B., additional, Lopez-Novoa, J. M., additional, Martinez-Salgado, C., additional, Villevalde, S., additional, Tyukhmenev, E., additional, Klimenko, A., additional, Kobalava, Z., additional, Shin, S. j., additional, Oh, S. W., additional, Rhee, M.-y., additional, Schneider, M., additional, Janka, R., additional, Raff, U., additional, Ritt, M., additional, Ott, C., additional, Uder, M., additional, Schmieder, R., additional, Golan, E., additional, Bernheim, J., additional, Podjarny, E., additional, Ozturk, K., additional, Bulucu, F., additional, Gezer, M., additional, Kilic, S., additional, Steele, A., additional, Rene de Cotret, P., additional, Hubert, M., additional, Leclerc, J.-M., additional, Tran, L., additional, Rigal, R., additional, Christensen, F. H., additional, Bech, J. N., additional, Raju, B., additional, Nirmala, V. R., additional, Vijayalakshmi, J., additional, Kalaiselvi, M., additional, Rekha, K., additional, Paiva, C. E., additional, Leone Aguiar, A. F., additional, Coelho, E. B., additional, Irzyniec, T., additional, Jez, W., additional, Paterno, J. C., additional, Jara, Z. P., additional, Barrinha, F. F., additional, Freire, A. O., additional, Casarini, D. E., additional, Teixeira, V. d. P. C., additional, Kose, E., additional, Can, E., additional, Alparslan, C., additional, Dogan, A., additional, Bal, A., additional, Demir, B. K., additional, Anil, M., additional, Anil, A. B., additional, Yavascan, O., additional, Aksu, N., additional, Prusek, J., additional, Szypula, M., additional, Grun, O., additional, Jeken, J., additional, Cremers, B., additional, Steimle, C., additional, Kersting, S., additional, Fliser, D., additional, Heine, G., additional, Pillar, R., additional, Lopes, M. G. G., additional, Cuppari, L., additional, Carvalho, A. B., additional, Canziani, M. E. F., additional, Lipkowska, K., additional, Blumczynski, A., additional, Soltysiak, J., additional, Silska, M., additional, Poprawska, A., additional, Musielak, A., additional, Zaniew, M., additional, Zachwieja, J., additional, Labrador, P. J., additional, and Gonzalez Castillo, P. M., additional

Published
2011
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40. FOUR HUMAN GENE VARIANTS PREDICT THE ANTIHYPERTENSIVE ACTIVITY OF ROSTAFUROXIN, A SELECTIVE INHIBITOR OF THEIR EFFECTS ON THE NA, K PUMP: PP.21.316

Author

Citterio, L, primary, Lanzani, C, additional, Delli Carpini, S, additional, Salvi, E, additional, Ferrandi, M, additional, Ferrari, P, additional, Glorioso, N, additional, Cusi, D, additional, Casamassima, N, additional, Valentini, G, additional, Staessen, JA, additional, Bianchi, G, additional, and Manunta, P, additional

Published
2010
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44. Hypertension in High School Students: Genetic and Environmental Factors: The HYGEF Study

Author

Laura Zagato, Giada Santini, Cristiano Magnaghi, Simona Delli Carpini, Chiara Lanzani, Marco Simonini, Gualtiero Ivanoe Colombo, Valeria Mezzolla, Giovanni Pertosa, Francesca Nistri, Simone Fontana, Salvatore Lenti, Filippo Cellai, Elisabetta Messaggio, Loreto Gesualdo, Roberto Bigazzi, Maria Teresa Rocchetti, Elena Brioni, Maria Pina Concas, Stefano Bianchi, Vito M. Campese, Paolo Manunta, Massimo Papale, Lorena Citterio, Bigazzi, R., Zagato, L., Lanzani, C., Fontana, S., Messaggio, E., Delli Carpini, S., Citterio, L., Simonini, M., Brioni, E., Magnaghi, C., Colombo, G. I., Santini, G., Nistri, F., Cellai, F., Lenti, S., Bianchi, S., Pertosa, G. B., Rocchetti, M. T., Papale, M., Mezzolla, V., Gesualdo, L., Pina Concas, M., Campese, V., Manunta, P., Bigazzi, Roberto, Zagato, Laura, Lanzani, Chiara, Fontana, Simone, Messaggio, Elisabetta, Delli Carpini, Simona, Citterio, Lorena, Simonini, Marco, Brioni, Elena, Magnaghi, Cristiano, Ivanoe Colombo, Gualtiero, Santini, Giada, Nistri, Francesca, Cellai, Filippo, Lenti, Salvatore, Bianchi, Stefano, Battista Pertosa, Giovanni, Teresa Rocchetti, Maria, Papale, Massimo, Mezzolla, Valeria, Gesualdo, Loreto, Concas, MARIA PINA, Campese, Vito, and Manunta, Paolo

Subjects
0301 basic medicine, Male, Candidate gene, medicine.medical_specialty, hypertension, Adolescent, Genotype, Urinary system, Single-nucleotide polymorphism, Blood Pressure, adolescents, blood pressure, genetics, human, sodiuria, 030204 cardiovascular system & hematology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Internal Medicine, medicine, Humans, Genetic Predisposition to Disease, Endothelial dysfunction, Klotho, Alleles, business.industry, medicine.disease, 030104 developmental biology, Blood pressure, ADD1, Endocrinology, Pathophysiology of hypertension, Hypertension, Female, Gene-Environment Interaction, genetic, business
Abstract

Hypertension and obesity in the young population are major risk factors for renal and cardiovascular events, which could arise in adulthood. A candidate-gene approach was applied in a cohort observational study, in which we collected data from 2638 high school adolescent students. Participants underwent anthropometric and blood pressure (BP) measurements, as well as saliva and urine sample collection for genomic DNA extraction and renal function evaluation, respectively. We tested whether candidate genes previously implicated in salt-sensitive hypertension in adults impact BP also among adolescents. Since inflammatory mechanisms may be involved in pathophysiology of hypertension and in endothelial dysfunction and atherosclerosis through reactive oxygen species, the baseline urinary excretion of inflammatory and oxidative stress markers in a subgroup of adolescents stratified according to ADD1 (alpha adducin) rs4961 genotypes was assessed. Regression analysis of BP values with genetic polymorphisms, highlighted an association with a missense variant of LSS (lanosterol synthase, rs2254524), a gene coding for an enzyme involved in endogenous ouabain synthesis. Higher diastolic and systolic BP were associated with LSS A allele ( P =0.011 and P =0.023, respectively). BP resulted associated with 5 more SNPs. The KL (klotho) rs9536314 missense variant was associated with 24 hour urinary Na + excretion ( P =0.0083). Urinary protein tests showed a greater excretion of IL1β (interleukin 1β) and interleukin 10 ( P ADD1 rs4961 T allele. In conclusion, 3 missense gene variants already implicated in adult hypertension impact BP or Na + excretion among adolescents, and, together with activated pro-inflammatory pathways, might predispose to early cardiovascular damage.

Published
2020

45. HYPERTENSION AND OBESITY IN HIGH SCHOOL STUDENTS: GENETIC AND ENVIRONMENTAL FACTORS. THE HYGEF STUDY

Author

Laura Zagato, S. Delli Carpini, F. Nistri, Lorena Citterio, Marco Simonini, Stefano Bianchi, Maria Pina Concas, G. Santini, S. Lenti, Stefano Tentori, P. Manunta, Simone Fontana, Vito M. Campese, C. Lanzani, Roberto Bigazzi, Elisabetta Messaggio, Elena Brioni, Cristiano Magnaghi, Fontana, S, Zagato, L, Bigazzi, R, Lanzani, C, Messaggio, E, Santini, G, Nistri, F, Delli Carpini, S, Citterio, L, Simonini, M, Tentori, S, Brioni, E, Magnaghi, C, Lenti, S, Bianchi, S, Campese, V, Concas, Mp, and Manunta, P

Subjects
Blood pressure, Physiology, business.industry, Young population, Environmental health, Internal Medicine, Medicine, Cardiology and Cardiovascular Medicine, business, medicine.disease, Obesity
Abstract

Objective:The clinical outcomes associated to hypertension and obesity in the young population are major risk factors for renal and cardiovascular events in the adult age.Objectives of the study are: to assess the associations among genetic and environmental factors and blood pressure (BP) in a high

Published
2019

46. ALPHA-ADDUCIN POLYMORPHISM'S INFLUENCE ON ISCHEMIC STROKES

Author

Lino Merlino, S. Delli Carpini, Marco Simonini, Laura Zagato, Elisabetta Messaggio, G. Giacalone, Paola Casanova, M. Sessa, Giancarlo Comi, P. Manunta, Casanova, P, Merlino, L, Giacalone, G, Zagato, L, Sessa, M, Comi, G, Delli Carpini, S, Messaggio, E, Manunta, P, and Simonini, M

Subjects
medicine.medical_specialty, Physiology, business.industry, Ischemic strokes, Internal medicine, Internal Medicine, medicine, Cardiology, Cardiology and Cardiovascular Medicine, business, Alpha-adducin
Published
2018
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47. PHARMACOGENOMICS OF HYPERTENSION

Author

C. Catena, S. Delli Carpini, Lorena Citterio, P. Manunta, C. Lanzani, C. Maggioni, Roberto Bigazzi, Maggioni, C, Lanzani, C, Citterio, L, Catena, C, Bigazzi, R, Delli Carpini, S, and Manunta, P

Subjects
Blood pressure control, medicine.medical_specialty, Blood pressure, Physiology, business.industry, Pharmacogenomics, Internal Medicine, Medicine, Personalized medicine, Cardiology and Cardiovascular Medicine, business, Intensive care medicine
Abstract

Objective:Worldwide blood pressure control is achieved only in 40–50% of patients treated for hypertension, despite the availability of a considerable number of antihypertensive drugs from different pharmacological classes. Although there are many reasons for insufficient control of blood pressure

Published
2019
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48. PRECISION MEDICINE

Author

Laura Zagato, Marco Simonini, S. Delli Carpini, P. Manunta, Lorena Citterio, John M. Hamlyn, Elena Brioni, E. Cuka, C. Lanzani, Cuka, E, Lanzani, C, Simonini, M, Zagato, L, Citterio, L, Brioni, E, Hamlyn, Jm, Delli Carpini, S, and Manunta, P

Subjects
medicine.medical_specialty, Cardiac output, biology, Physiology, business.industry, Sodium, Cyp11b2 gene, Kidney dysfunction, chemistry.chemical_element, Precision medicine, Affect (psychology), Endocrinology, chemistry, Internal medicine, Salt sensitivity, Internal Medicine, medicine, biology.protein, Cardiology and Cardiovascular Medicine, business, Lanosterol synthase
Abstract

Objective:For decades, it has been widely accepted that initiation of salt-induced hypertension involves a type of kidney dysfunction (natriuretic handicap) which causes salt-sensitive subjects to excrete less of a sodium load than normal subjects and to undergo abnormal increases in cardiac output

Published
2019
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49. Left Ventricular Radial Function Associated With Genetic Variation in the cGMP-Dependent Protein Kinase

Author

Simona Delli Carpini, Jan A. Staessen, Nunzia Casamassima, Giuseppe Bianchi, Paolo Manunta, Tatiana Kuznetsova, Jan D'hooge, Lorena Citterio, Lutgarde Thijs, Laura Zagato, Kuznetsova, T, Citterio, L, Zagato, L, DELLI CARPINI, S, Thijs, L, Casamassima, N, D’Hooge, J, Bianchi, G, Manunta, Paolo, and Staessen, J. A.

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Offspring, Population, Single-nucleotide polymorphism, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, Ventricular Function, Left, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Internal medicine, Internal Medicine, medicine, Humans, Genetic Predisposition to Disease, education, Protein kinase A, Alleles, Genetic Association Studies, Aged, Cyclic GMP-Dependent Protein Kinase Type I, 030304 developmental biology, Aged, 80 and over, 0303 health sciences, education.field_of_study, Haplotype, Middle Aged, Endocrinology, Haplotypes, Hypertension, Circulatory system, Female, Radial stress, cGMP-dependent protein kinase
Abstract

cGMP-dependent protein kinase type I is a major mediator of cGMP signaling in the cardiovascular system. Recent studies on cardiac-specific PRKG1 knockout mice demonstrated that cGMP-dependent protein kinase type I mediates the negative inotropic effect of cGMP in the myocardium. We therefore investigated the association between left ventricular (LV) function and common polymorphisms in the PRKG1 gene in a general population. In 609 randomly selected participants (51.2% women; mean age, 48.8 years; 36.6% hypertensive) who were free from overt cardiac disease, we performed echocardiography and genotyped intronic tag single-nucleotide polymorphisms (SNPs) rs1904694, rs7897633, and rs7905063 in PRKG1. On the basis of color Doppler myocardial motion data, we calculated end-systolic longitudinal and radial deformation (strain) of the LV inferolateral wall. In multivariable-adjusted analyses accounting for confounders and relatedness, systolic radial strain was significantly ( P ≤0.005) higher in homozygotes for rs1904694 (GG), rs7897633 (AA), and rs7905063 (TT) compared with heterozygotes or noncarriers. Haplotype analysis confirmed that LV radial strain was significantly higher in GAT homozygotes than in noncarriers (62.3% versus 56.0%; P =0.0005). Transmission of the PRKG1 GAT haplotype to informative offspring was associated with higher LV radial strain (effect size, 6.11%; P =0.017). For other LV phenotypes, none of the phenotype–genotype associations reached statistical significance. In conclusion, LV systolic radial function was associated with common polymorphisms in PRKG1 . If experimental studies and longitudinal follow-up of LV function confirm the causality of this association, interference with cGMP-dependent protein kinase type I function might be a target for pharmacological intervention.

Published
2013
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50. Gly460Trp α-Adducin Mutation as a Possible Mechanism Leading to Endolymphatic Hydrops in Ménière's Syndrome

Author

Laura Zagato, Mario Bussi, Simona Delli Carpini, Paolo Manunta, Chiara Lanzani, Giuseppe Bianchi, Roberto Teggi, Teggi, R, Lanzani, C, Zagato, L, DELLI CARPINI, S, Manunta, Paolo, Bianchi, G, and Bussi, M.

Subjects
Male, medicine.medical_specialty, Genotype, Endolymph, Population, Polymorphism (computer science), Internal medicine, medicine, Humans, Point Mutation, Endolymphatic Hydrops, Inner ear, Endolymphatic hydrops, education, Alleles, Meniere Disease, DNA Primers, education.field_of_study, Polymorphism, Genetic, business.industry, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Sensory Systems, Endocrinology, medicine.anatomical_structure, ADD1, Otorhinolaryngology, Audiometry, Pure-Tone, Calmodulin-Binding Proteins, Female, Neurology (clinical), medicine.symptom, business, Tinnitus, Meniere's disease
Abstract

Objective: Meniere's disease (MD) is an inner ear disorder characterized by recurrent episodic vertigo, hearing loss that is fluctuating in the first stages, aural fullness, and tinnitus. Raised endolymphatic pressure (hydrops) is commonly accepted as a causal condition. Approximately 90% of cases of MD are sporadic, whereas the remaining 10% of cases are linked to genetic factors. The ionic composition of endolymph may also depend on the activity of Na+, K+-ATPase. Adducin is a heterodimeric cytoskeleton protein consisting of 3 subunits (α, β, and γ) coded by 3 different genes (ADD1, ADD2, and ADD3). ADD1 Gly460Trp polymorphism is associated with salt-sensitive hypertension and increased Na+-K+ pump activity in transfected cells. This study aims to verify the role of adducin in the development of MD. Methods: We genotyped 28 patients affected by definite MD according to American Academy of Otolaryngology-Head and Neck Surgery Foundation criteria. Results were compared with those from 2 different control populations (normotensive control group from San Raffaele Hospital and general population group). Results: We have not found any significant difference in the distribution of ADD2 C1797T and ADD3 IVS11+386A/G polymorphism genotypes. On the other hand, the frequency of ADD1 Trp allele is significantly increased in patients with MD compared with controls. Conclusion: We present data supporting the possibility that increased Na+, K+-ATPase activity may be one of the pathologic mechanisms inducing hyperosmolarity in endolymph which, in turn, may lead to hydrops.

Published
2008
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