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11 results on '"Cox, S N"'

2. Mobile phone access and comfort: implications for HIV and tuberculosis care in India and South Africa

Author

Cox, S. N., primary, Elf, J. L., additional, Lokhande, R., additional, Ogale, Y. P., additional, DiAndreth, L., additional, Dupuis, E., additional, Milovanovic, M., additional, Mpungose, N., additional, Mave, V., additional, Suryavanshi, N., additional, Gupta, A., additional, Martinson, N., additional, Golub, J. E., additional, and Mathad, J. S., additional

Published
2019
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3. Multiple rare genetic variants co-segregating with familial IgA nephropathy all act within a single immune-related network

Author

Cox, S N, Pesce, F, El-Sayed Moustafa, J S, Sallustio, F, Serino, G, Kkoufou, C, Giampetruzzi, A, Ancona, N, Falchi, M, and Schena, F P

Subjects
kidney disease, genepolymorphism, genetics, familymedicine, glomerulonephritis
Abstract

BACKGROUND: IgA nephropathy (IgAN) is a common complex disease with a strong genetic involvement. We aimed to identify novel, rare, highly penetrant risk variants combining family-based linkage analysis with whole-exome sequencing (WES).METHODS: Linkage analysis of 16 kindreds of South Italian ancestry was performed using an 'affected-only' strategy. Eight most informative trios composed of two familial cases and an intrafamilial control were selected for WES. High-priority variants in linked regions were identified and validated using Sanger sequencing. Custom TaqMan assays were designed and carried out in the 16 kindreds and an independent cohort of 240 IgAN patients and 113 control subjects.RESULTS: We found suggestive linkage signals in 12 loci. After sequential filtering and validation of WES data, we identified 24 private or extremely rare (MAF CONCLUSION: Our findings suggest that disease susceptibility could be influenced by multiple rare variants acting in a common network that could provide the starting point for the identification of potential drug targets for personalized therapy.

Published
2016
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4. Differential surface glycoprofile of buffalo bull spermatozoa during mating and non-mating periods.

Author

Accogli, G., Lacalandra, G. M., Aiudi, G., Cox, S. N., and Desantis, S.

Abstract

The buffalo has a seasonal reproduction activity with mating and non-mating periods occurring from late autumn to winter and from late spring to beginning of autumn, respectively. Sperm glycocalyx plays an important role in reproduction as it is the first interface between sperm and environment. Semen quality is poorer during non-mating periods, so we aimed to evaluate if there were also seasonal differences in the surface glycosylation pattern of mating period spermatozoa (MPS) compared with non-mating period spermatozoa (NMPS). The complexity of carbohydrate structures makes their analysis challenging, and recently the high-throughput microarray approach is now providing a new tool into the evaluation of cell glycosylation status. We adopted a novel procedure in which spermatozoa was spotted on microarray slides, incubated with a panel of 12 biotinylated lectins and Cy3-conjugated streptavidin, and then signal intensity was detected using a microarray scanner. Both MPS and NMPS microarrays reacted with all the lectins and revealed that the expression of (i) O-glycans with NeuNAcα2-3Galβ1,3(±NeuNAcα2-6)GalNAc, Galβ1,3GalNAc and GalNAcα1,3(l-Fucα1,2)Galβ1,3/4GlcNAcβ1 was not season dependent; (ii) O-linked glycans terminating with GalNAc, asialo N-linked glycans terminating with Galβ1,4GlcNAc, GlcNAc, as well as α1,6 and α1,2-linked fucosylated oligosaccharides was predominant in MPS; (iii) high mannose- and biantennary complex types N-glycans terminating with α2,6 sialic acids and terminal galactose were lower in MPS. Overall, this innovative cell microarray method was able to identify specific glycosylation changes that occur on buffalo bull sperm surface during the mating and non-mating periods. [ABSTRACT FROM PUBLISHER]

Published
2017
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5. Genetic diseases and molecular genetics

Author

Legendre, C., primary, Cohen, D., additional, Delmas, Y., additional, Feldkamp, T., additional, Fouque, D., additional, Furman, R., additional, Gaber, O., additional, Greenbaum, L., additional, Goodship, T., additional, Haller, H., additional, Herthelius, M., additional, Hourmant, M., additional, Licht, C., additional, Moulin, B., additional, Sheerin, N., additional, Trivelli, A., additional, Bedrosian, C. L., additional, Loirat, C., additional, Legendre, C., additional, Babu, S., additional, Jungraithmayr, T., additional, Lebranchu, Y., additional, Riedl, M., additional, Gaber, A. O., additional, Bedrosian, C., additional, Muus, P., additional, Douglas, K., additional, Remuzzi, G., additional, Kourouklaris, A., additional, Ioannou, K., additional, Athanasiou, I., additional, Demetriou, K., additional, Panagidou, A., additional, Zavros, M., additional, Rodriguez C, N. Y., additional, Blasco, M., additional, Arcal, C., additional, Quintana, L. F., additional, Rodriguez de Cordoba, S., additional, Campistol, J. M., additional, Bachmann, N., additional, Eisenberger, T., additional, Decker, C., additional, Bolz, H. J., additional, Bergmann, C., additional, Pesce, F., additional, Cox, S. N., additional, Serino, G., additional, De Palma, G., additional, Sallustio, F. P., additional, Schena, F., additional, Falchi, M., additional, Pieri, M., additional, Stefanou, C., additional, Zaravinos, A., additional, Erguler, K., additional, Lapathitis, G., additional, Dweep, H., additional, Sticht, C., additional, Anastasiadou, N., additional, Zouvani, I., additional, Voskarides, K., additional, Gretz, N., additional, Deltas, C. C., additional, Ruiz, A., additional, Bonny, O., additional, Sallustio, F., additional, Curci, C., additional, Cox, S., additional, Kemter, E., additional, Sklenak, S., additional, Aigner, B., additional, Wanke, R., additional, Kitzler, T. M., additional, Moskowitz, J. L., additional, Piret, S. E., additional, Lhotta, K., additional, Tashman, A., additional, Velez, E., additional, Thakker, R. V., additional, Kotanko, P., additional, Leierer, J., additional, Rudnicki, M., additional, Perco, P., additional, Koppelstaetter, C., additional, Mayer, G., additional, Sa, M. J. N., additional, Alves, S., additional, Storey, H., additional, Flinter, F., additional, Willems, P. J., additional, Carvalho, F., additional, Oliveira, J., additional, Arsali, M., additional, Papazachariou, L., additional, Demosthenous, P., additional, Lazarou, A., additional, Hadjigavriel, M., additional, Stavrou, C., additional, Yioukkas, L., additional, Deltas, C., additional, Pierides, A., additional, Kkolou, M., additional, Toka, H. R., additional, Dibartolo, S., additional, Lanske, B., additional, Brown, E. M., additional, Pollak, M. R., additional, Familiari, A., additional, Zavan, B., additional, Sanna Cherchi, S., additional, Fabris, A., additional, Cristofaro, R., additional, Gambaro, G., additional, D'Angelo, A., additional, Anglani, F., additional, Toka, H., additional, Mount, D., additional, Pollak, M., additional, Curhan, G., additional, Sengoge, G., additional, Bajari, T., additional, Kupczok, A., additional, von Haeseler, A., additional, Schuster, M., additional, Pfaller, W., additional, Jennings, P., additional, Weltermann, A., additional, Blake, S., additional, Sunder-Plassmann, G., additional, Kerti, A., additional, Csohany, R., additional, Wagner, L., additional, Javorszky, E., additional, Maka, E., additional, Tulassay, T., additional, Tory, K., additional, Kingswood, J., additional, Nikolskaya, N., additional, Mbundi, J., additional, Jozwiak, S., additional, Belousova, E., additional, Frost, M., additional, Kuperman, R., additional, Bebin, M., additional, Korf, B., additional, Flamini, R., additional, Kohrman, M., additional, Sparagana, S., additional, Wu, J., additional, Brechenmacher, T., additional, Stein, K., additional, Bissler, J., additional, Franz, D., additional, Zonnenberg, B., additional, Cheung, W., additional, Wang, J., additional, Lam, D., additional, Budde, K., additional, Ivanitskiy, L., additional, Sowershaewa, E., additional, Krasnova, T., additional, Samokhodskaya, L., additional, Safarikova, M., additional, Jana, R., additional, Jitka, S., additional, Obeidova, L., additional, Kohoutova, M., additional, Tesar, V., additional, Evrengul, H., additional, Ertan, P., additional, Serdaroglu, E., additional, Yuksel, S., additional, Mir, S., additional, Yang n Ergon, E., additional, Berdeli, A., additional, Zawada, A., additional, Rogacev, K., additional, Rotter, B., additional, Winter, P., additional, Fliser, D., additional, Heine, G., additional, Bataille, S., additional, Moal, V., additional, Berland, Y., additional, Daniel, L., additional, Rosado, C., additional, Bueno, E., additional, Fraile, P., additional, Lucas, C., additional, Garcoa-Cosmes, P., additional, Tabernero, J. M., additional, Gonzalez, R., additional, Garcia-Cosmes, P., additional, Silska-Dittmar, M., additional, Zaorska, K., additional, Malke, A., additional, Musielak, A., additional, Ostalska-Nowicka, D., additional, Zachwieja, J., additional, K d r, V., additional, Uz, E., additional, Yigit, A., additional, Altuntas, A., additional, Yigit, B., additional, Inal, S., additional, Sezer, M., additional, Yilmaz, R., additional, Visciano, B., additional, Porto, C., additional, Acampora, E., additional, Russo, R., additional, Riccio, E., additional, Capuano, I., additional, Parenti, G., additional, Pisani, A., additional, Feriozzi, S., additional, Perrin, A., additional, West, M., additional, Nicholls, K., additional, Torras, J., additional, Cybulla, M., additional, Conti, M., additional, Angioi, A., additional, Floris, M., additional, Melis, P., additional, Asunis, A. M., additional, Piras, D., additional, Pani, A., additional, Warnock, D., additional, Guasch, A., additional, Thomas, C., additional, Wanner, C., additional, Campbell, R., additional, Vujkovac, B., additional, Okur, I., additional, Biberoglu, G., additional, Ezgu, F., additional, Tumer, L., additional, Hasanoglu, A., additional, Bicik, Z., additional, Akin, Y., additional, Mumcuoglu, M., additional, Ecder, T., additional, Paliouras, C., additional, Mattas, G., additional, Papagiannis, N., additional, Ntetskas, G., additional, Lamprianou, F., additional, Karvouniaris, N., additional, and Alivanis, P., additional

Published
2013
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6. Genetic studies in renal diseases

Author

Tosetto, E., primary, Casarin, A., additional, Cristofaro, R., additional, Salviati, L., additional, Anglani, F., additional, Prot Bertoye, C., additional, Lebbah, S., additional, Daudon, M., additional, Couffignal, C., additional, Elie, C., additional, Tostivint, I., additional, Traxer, O., additional, Knebelmann, B., additional, Courbebaisse, M., additional, Bavbek Ruzgaresen, N., additional, Ceri, M., additional, Kargili, A., additional, Akdeniz, D., additional, Akcay, A., additional, Duranay, M., additional, Guz, G., additional, Testa, A., additional, Spoto, B., additional, Sanguedolce, M. C., additional, Panuccio, V., additional, Leonardis, D., additional, Tripepi, R., additional, Mafrica, A., additional, Tripepi, G., additional, Zoccali, C., additional, Mallamaci, F., additional, Pesce, F., additional, Cox, S. N., additional, Serino, G., additional, Sallustio, F., additional, Froguel, P., additional, Schena, F. P., additional, Falchi, M., additional, Boger, C., additional, and Ckd Progression Writing Group, O. B. o. t. C., additional

Published
2012
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7. IgA Nephropathy and urinary proteomics

Author

Serino, G., primary, Sallustio, F., additional, Cox, S. N., additional, Pesce, F., additional, Schena, F. P., additional, Papista, C., additional, Berthelot, L., additional, Maciel, T. T., additional, Biarnes-Pelicot, M., additional, Tissandie, E., additional, Wang, P. H. M., additional, Tamouza, H., additional, Jamin, A., additional, Bex-Coudrat, J., additional, Gestin, A., additional, Boumediene, A., additional, Arcos-Fajardo, M., additional, England, P., additional, Pillebout, E., additional, Walker, F., additional, Daugas, E., additional, Vrtosvnik, F., additional, Benhamou, M., additional, Cogne, M., additional, Moura, I. C., additional, Monteiro, R. C., additional, Sarcina, C., additional, Tinelli, C., additional, Ferrario, F., additional, Visciano, B., additional, Terraneo, V., additional, Pani, A., additional, Fogazzi, G. B., additional, Furiani, S., additional, Alberghini, E., additional, Buzzi, L., additional, Pozzi, C., additional, Graterol, F., additional, Navarro-Munoz, M., additional, Lopez, D., additional, Ibernon, M., additional, Navarro, M., additional, Troya, M., additional, Perez, V., additional, Sala, N., additional, Serra, A., additional, Bonet, J., additional, Romero, R., additional, Tatematsu, M., additional, Yasuda, Y., additional, Sato, W., additional, Tsuboi, N., additional, Maruyama, S., additional, Imai, E., additional, and Matsuo, S., additional

Published
2012
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8. Cell signalling / Pathophysiology

Author

Cerini, C., primary, Gondouin, B., additional, Dou, L., additional, Duval-Sabatier, A., additional, Brunet, P., additional, Dignat- George, F., additional, Burtey, S., additional, Okano, K., additional, Iwasaki, T., additional, Jinnai, H., additional, Hibi, A., additional, Miwa, N., additional, Kimata, N., additional, Nitta, K., additional, Akiba, T., additional, Dolley-Hitze, T., additional, Verhoest, G., additional, Jouan, F., additional, Arlot-Bonnemains, Y., additional, Lavenu, A., additional, Belaud-Rotureau, M.-A., additional, Rioux-Leclercq, N., additional, Vigneau, C., additional, Cox, S. N., additional, Sallustio, F., additional, Serino, G., additional, Loverre, A., additional, Pesce, F., additional, Gigante, M., additional, Zaza, G., additional, Stifanelli, P., additional, Ancona, N., additional, Schena, F. P., additional, Marc, P., additional, Jacques, T., additional, Green, J. M., additional, Mortensen, R. B., additional, Verma, R., additional, Leu, K., additional, Schatz, P. J., additional, Wojchowski, D. M., additional, Ihoriya, C., additional, Satoh, M., additional, Sasaki, T., additional, Kashihara, N., additional, Jung, Y. J., additional, Kang, K. P., additional, Lee, A. S., additional, Lee, J. E., additional, Lee, S., additional, Park, S. K., additional, Kim, W., additional, Florian, T., additional, Tepel, M., additional, Ying, L., additional, Katharina, K., additional, Nora, F., additional, Antje, W., additional, Alexandra, S., additional, Chiu, Y.-T., additional, Wu, M.-J., additional, Liu, Z.-H., additional, Liang, Y., additional, Zheng, C.-X., additional, Chen, Z.-H., additional, Zeng, C.-H., additional, Ranzinger, J., additional, Rustom, A., additional, Kihm, L., additional, Heide, D., additional, Scheurich, P., additional, Zeier, M., additional, Schwenger, V., additional, Liu, J., additional, Zhong, F., additional, Xu, L., additional, Zhou, Q., additional, Hao, X., additional, Wang, W., additional, Chen, N., additional, Liu, X., additional, Lu, Y., additional, Guo, S., additional, Lin, D., additional, Vilasi, A., additional, Deplano, S., additional, Cutillas, P., additional, Unwin, R., additional, Tam, F. W. K., additional, Medrano-Andres, D., additional, Lopez-Martinez, V., additional, Martinez-Miguel, P., additional, Cano, J. L., additional, Arribas, I., additional, Rodiguez-Puyol, M., additional, Lopez-Ongil, S., additional, Kadoya, H., additional, Nagasu, H., additional, Lindeberg, E., additional, Grundstrom, G., additional, Alexandra, M., additional, Ghosh, C. C., additional, David, S., additional, Mukherjee, A., additional, John, S. G., additional, Mcintyre, C. W., additional, Haller, H., additional, Parikh, S. M., additional, Troyano, N., additional, Del Nogal, M., additional, Olmos, G., additional, Mora, I., additional, DE Frutos, S., additional, Rodriguez-Puyol, M., additional, Ruiz, M. P., additional, Rothe, H., additional, Shapiro, W., additional, Ketteler, M., additional, Ramakrishnan, S. K., additional, Loupy, A., additional, Houillier, P., additional, Guilhermino Pereira, L., additional, Boim, M., additional, Aragao, D., additional, Casarini, D., additional, Jin, Y., additional, Moon, J.-Y., additional, Kim, Y.-G., additional, Lee, S.-H., additional, Lee, T.-W., additional, Ihm, C.-G., additional, Kim, E.-Y., additional, Lee, H.-J., additional, Wi, J.-G., additional, Jeong, K.-H., additional, Ruan, X. Z., additional, LI, L.-C., additional, Varghese, Z., additional, Chen, J.-B., additional, Lee, C.-T., additional, Moorhead, J., additional, Cerini, C., additional, Poitevin, S., additional, Dignat-George, F., additional, Stephane, B., additional, Bonanni, A., additional, Verzola, D., additional, Maggi, D., additional, Brunori, G., additional, Sofia, A., additional, Mannucci, I., additional, Maffioli, S., additional, Salani, B., additional, D'amato, E., additional, Saffioti, S., additional, Laudon, A., additional, Cordera, R., additional, Garibotto, G., additional, Maquigussa, E., additional, and Arnoni, C., additional

Published
2012
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9. Stem cells

Author

Sallustio, F., primary, Costantino, V., additional, Cox, S. N., additional, Loverre, A., additional, Rizzi, M., additional, and Schena, F. P., additional

Published
2012
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