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2. Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

Author

Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, and Gucev Z

Subjects
congenital anomalies of kidneys and the urinary tract (cakut), copy number variations (cnvs), disorders of sex development (dsd), Genetics, QH426-470
Abstract

Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in multiple malformation syndromes. We describe the case of an 11-year-old Caucasian boy, with right kidney hypoplasia and hypospadias. Genome-wide copy number variation (CNV) analysis revealed a unique duplication of about 550 kb on chromosome Xq27, and a 46,XX karyotype, consistent with a sex reversal phenotype. This region includes multiple genes, and, among these, SOX3 emerged as the main phenotypic driver. This is the fifth case reporting a genomic imbalance involving the SOX3 gene in a 46,XX SRY-negative male, and the first with associated renal malformations. Our data provide plausible links between SOX3 gene dosage and kidney malformations. It is noteworthy that the current and reported SOX3 gene duplications are below the detection threshold of standard karyotypes and were found only by analyzing CNVs using DNA microarrays. Therefore, all 46,XX SRY-negative males should be screened for SOX3 gene duplications with DNA microarrays.

Published
2019
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3. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Author

Gehin, C., Lone, M.A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A.M., Gerkes, E.H., Stegmann, A.P.A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E.R., Zamuner, S., Abriata, L.A., Kunnathully, V., Moeller, B.E., Vocat, A., Rommelaere, S., Bocquete, J.P., Ruchti, E., Limoni, G., Campenhoudt, M. Van, Bourgeat, S., Henklein, P., Gilissen, C.F., Bon, B.W.M. van, Pfundt, R.P., Willemsen, M.H., Schieving, J.H., Leonardi, E., Soli, F., Murgia, A., Guo, H, Zhang, Qiumeng, Xia, K., Fagerberg, C.R., Beier, C.P., Larsen, M.J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S., Śmigiel, R., López-González, V., Armengol, L., Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N.S., Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A.L., Tran Mau-Them, F., Maddocks, A.B., Bain, J.M., Bhat, M.A., Costain, G., Kannu, P., Marwaha, A., Champaigne, N.L., Friez, M.J., Richardson, E.B., Gowda, V.K., Srinivasan, V.M., Gupta, Y., Lim, T.Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada, K., Burke, J.E., Jakšić, A.M., McCabe, B.D., Los Rios, P. De, Hornemann, T., D'Angelo, G., Gennarino, V.A., Gehin, C., Lone, M.A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A.M., Gerkes, E.H., Stegmann, A.P.A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E.R., Zamuner, S., Abriata, L.A., Kunnathully, V., Moeller, B.E., Vocat, A., Rommelaere, S., Bocquete, J.P., Ruchti, E., Limoni, G., Campenhoudt, M. Van, Bourgeat, S., Henklein, P., Gilissen, C.F., Bon, B.W.M. van, Pfundt, R.P., Willemsen, M.H., Schieving, J.H., Leonardi, E., Soli, F., Murgia, A., Guo, H, Zhang, Qiumeng, Xia, K., Fagerberg, C.R., Beier, C.P., Larsen, M.J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S., Śmigiel, R., López-González, V., Armengol, L., Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N.S., Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A.L., Tran Mau-Them, F., Maddocks, A.B., Bain, J.M., Bhat, M.A., Costain, G., Kannu, P., Marwaha, A., Champaigne, N.L., Friez, M.J., Richardson, E.B., Gowda, V.K., Srinivasan, V.M., Gupta, Y., Lim, T.Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada, K., Burke, J.E., Jakšić, A.M., McCabe, B.D., Los Rios, P. De, Hornemann, T., D'Angelo, G., and Gennarino, V.A.

Abstract

Item does not contain fulltext, Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with intellectual disability, but the pathogenic mechanism remains obscure. Here, we characterize 31 individuals with de novo missense variants in CERT1. Several variants fall into a previously uncharacterized dimeric helical domain that enables CERT homeostatic inactivation, without which sphingolipid production goes unchecked. The clinical severity reflects the degree to which CERT autoregulation is disrupted, and inhibiting CERT pharmacologically corrects morphological and motor abnormalities in a Drosophila model of the disease, which we call ceramide transporter (CerTra) syndrome. These findings uncover a central role for CERT autoregulation in the control of sphingolipid biosynthetic flux, provide unexpected insight into the structural organization of CERT, and suggest a possible therapeutic approach for patients with CerTra syndrome.

Published
2023

4. Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.

Author

Barry, A., McNulty, M.T., Jia, X., Gupta, Y., Debiec, H., Luo, Y, Nagano, C., Horinouchi, T., Jung, S., Colucci, M., Ahram, D.F., Mitrotti, A., Sinha, A., Teeninga, N., Jin, G., Shril, S., Caridi, G., Bodria, M., Lim, T.Y., Westland, R., Zanoni, F., Marasa, M., Turudic, D., Giordano, M., Gesualdo, L., Magistroni, R., Pisani, I., Fiaccadori, E., Reiterova, J., Maringhini, S., Morello, W., Montini, G., Weng, P.L., Scolari, F., Saraga, M., Tasic, V., Santoro, D., Wijk, J.A. van, Milošević, D., Kawai, Y., Kiryluk, K., Pollak, M.R., Gharavi, A., Lin, F., Simœs E Silva, A.C., Loos, R.J., Kenny, E.E., Schreuder, M.F., Zurowska, A., Dossier, C., Ariceta, G., Drozynska-Duklas, M., Hogan, J., Jankauskiene, A., Hildebrandt, F., Prikhodina, L., Song, K., Bagga, A., Cheong H, 2.n.d., Ghiggeri, G.M., Vachvanichsanong, P., Nozu, K., Lee, D., Vivarelli, M., Raychaudhuri, S., Tokunaga, K., Sanna-Cherchi, S., Ronco, P., Iijima, K., Sampson, M.G., Barry, A., McNulty, M.T., Jia, X., Gupta, Y., Debiec, H., Luo, Y, Nagano, C., Horinouchi, T., Jung, S., Colucci, M., Ahram, D.F., Mitrotti, A., Sinha, A., Teeninga, N., Jin, G., Shril, S., Caridi, G., Bodria, M., Lim, T.Y., Westland, R., Zanoni, F., Marasa, M., Turudic, D., Giordano, M., Gesualdo, L., Magistroni, R., Pisani, I., Fiaccadori, E., Reiterova, J., Maringhini, S., Morello, W., Montini, G., Weng, P.L., Scolari, F., Saraga, M., Tasic, V., Santoro, D., Wijk, J.A. van, Milošević, D., Kawai, Y., Kiryluk, K., Pollak, M.R., Gharavi, A., Lin, F., Simœs E Silva, A.C., Loos, R.J., Kenny, E.E., Schreuder, M.F., Zurowska, A., Dossier, C., Ariceta, G., Drozynska-Duklas, M., Hogan, J., Jankauskiene, A., Hildebrandt, F., Prikhodina, L., Song, K., Bagga, A., Cheong H, 2.n.d., Ghiggeri, G.M., Vachvanichsanong, P., Nozu, K., Lee, D., Vivarelli, M., Raychaudhuri, S., Tokunaga, K., Sanna-Cherchi, S., Ronco, P., Iijima, K., and Sampson, M.G.

Abstract

Item does not contain fulltext, Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk loci. But the genetic architecture of pSSNS, and its genetically driven pathobiology, is largely unknown. Here, we conduct a multi-population GWAS meta-analysis in 38,463 participants (2440 cases). We then conduct conditional analyses and population specific GWAS. We discover twelve significant associations-eight from the multi-population meta-analysis (four novel), two from the multi-population conditional analysis (one novel), and two additional novel loci from the European meta-analysis. Fine-mapping implicates specific amino acid haplotypes in HLA-DQA1 and HLA-DQB1 driving the HLA Class II risk locus. Non-HLA loci colocalize with eQTLs of monocytes and numerous T-cell subsets in independent datasets. Colocalization with kidney eQTLs is lacking but overlap with kidney cell open chromatin suggests an uncharacterized disease mechanism in kidney cells. A polygenic risk score (PRS) associates with earlier disease onset. Altogether, these discoveries expand our knowledge of pSSNS genetic architecture across populations and provide cell-specific insights into its molecular drivers. Evaluating these associations in additional cohorts will refine our understanding of population specificity, heterogeneity, and clinical and molecular associations.

Published
2023

5. Tubulointerstitial disease in diabetic nephropathy

Author

Tonolo G and Cherchi S

Subjects
Diseases of the genitourinary system. Urology, RC870-923
Abstract

Giancarlo Tonolo, Sara Cherchi SC Diabetologia Aziendale ASL 2 Olbia, Hospital San Giovanni di Dio, Olbia, Italy Abstract: Diabetes mellitus is the major cause of end stage renal disease (ESRD). We cannot predict which patient will be affected. ESRD patients suffer an extremely high mortality rate, due to a very high incidence of cardiovascular disease. Several randomized, prospective studies have been conducted to quantify the impact of strict glycemic control on morbidity and mortality, and have consistently demonstrated an association between strict glycemic control and a reduction in ESRD. Within the past 20 years, despite the implementation of treatments that were presumed to be renoprotective, diabetes mellitus has continued to rank as the leading cause of ESRD, which clearly indicates that we are still far from understanding the mechanisms involved in the initiation of ESRD. Progressive albuminuria has been considered as the sine qua non of diabetic nephropathy, but we know now that progression to diabetic nephropathy may well happen in the absence of initial microalbuminuria. The search for new biomarkers of early kidney damage has received increasing interest, since early identification of the pathways leading to kidney damage may allow us to adopt measures to prevent the development of ESRD. Most of these biomarkers are deeply influenced by environment, genetics, sex differences, and so on, making it extremely difficult to identify the ideal biomarker to target. At present, there are no new drugs that come close to providing the solutions we desire for our patients (ie, reducing complications). Even when used in combination with standard care, renal complications are, at best, only modestly reduced, at the considerable expense of additional pill burden and exposure to serious off-target effects. In this review, some of the hypothesized mechanisms of this heterogeneous disease will be considered, with particular attention to the tubule–interstitial compartment. Keywords: TGF-ß1, ESRD, Ox-LDL, diabetes, ESRD

Published
2014

7. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Author

Koettgen, A, Cornec-Le Gall, E, Halbritter, J, Kiryluk, K, Mallett, AJ, Parekh, RS, Rasouly, HM, Sampson, MG, Tin, A, Antignac, C, Ars, E, Bergmann, C, Bleyer, AJ, Bockenhauer, D, Devuyst, O, Florez, JC, Fowler, KJ, Franceschini, N, Fukagawa, M, Gale, DP, Gbadegesin, RA, Goldstein, DB, Grams, ME, Greka, A, Gross, O, Guay-Woodford, LM, Harris, PC, Hoefele, J, Hung, AM, Knoers, NVAM, Kopp, JB, Kretzler, M, Lanktree, MB, Lipska-Zietkiewicz, BS, Nicholls, K, Nozu, K, Ojo, A, Parsa, A, Pattaro, C, Pei, Y, Pollak, MR, Rhee, EP, Sanna-Cherchi, S, Savige, J, Sayer, JA, Scolari, F, Sedor, JR, Sim, X, Somlo, S, Susztak, K, Tayo, BO, Torra, R, van Eerde, AM, Weinstock, A, Winkler, CA, Wuttke, M, Zhang, H, King, JM, Cheung, M, Jadoul, M, Winkelmayer, WC, Gharavi, AG, Koettgen, A, Cornec-Le Gall, E, Halbritter, J, Kiryluk, K, Mallett, AJ, Parekh, RS, Rasouly, HM, Sampson, MG, Tin, A, Antignac, C, Ars, E, Bergmann, C, Bleyer, AJ, Bockenhauer, D, Devuyst, O, Florez, JC, Fowler, KJ, Franceschini, N, Fukagawa, M, Gale, DP, Gbadegesin, RA, Goldstein, DB, Grams, ME, Greka, A, Gross, O, Guay-Woodford, LM, Harris, PC, Hoefele, J, Hung, AM, Knoers, NVAM, Kopp, JB, Kretzler, M, Lanktree, MB, Lipska-Zietkiewicz, BS, Nicholls, K, Nozu, K, Ojo, A, Parsa, A, Pattaro, C, Pei, Y, Pollak, MR, Rhee, EP, Sanna-Cherchi, S, Savige, J, Sayer, JA, Scolari, F, Sedor, JR, Sim, X, Somlo, S, Susztak, K, Tayo, BO, Torra, R, van Eerde, AM, Weinstock, A, Winkler, CA, Wuttke, M, Zhang, H, King, JM, Cheung, M, Jadoul, M, Winkelmayer, WC, and Gharavi, AG

Abstract

Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance, choice of therapy, and family counseling. All of these steps rely on accurate interpretation of genetic data, which can be outpaced by current rates of data collection. In March of 2021, Kidney Diseases: Improving Global Outcomes (KDIGO) held a Controversies Conference on "Genetics in Chronic Kidney Disease (CKD)" to review the current state of understanding of monogenic and complex (polygenic) kidney diseases, processes for applying genetic findings in clinical medicine, and use of genomics for defining and stratifying CKD. Given the important contribution of genetic variants to CKD, practitioners with CKD patients are advised to "think genetic," which specifically involves obtaining a family history, collecting detailed information on age of CKD onset, performing clinical examination for extrarenal symptoms, and considering genetic testing. To improve the use of genetics in nephrology, meeting participants advised developing an advanced training or subspecialty track for nephrologists, crafting guidelines for testing and treatment, and educating patients, students, and practitioners. Key areas of future research, including clinical interpretation of genome variation, electronic phenotyping, global representation, kidney-specific molecular data, polygenic scores, translational epidemiology, and open data resources, were also identified.

Published
2022

8. Efficacy of self-monitoring blood glucose as a key component of a chronic care model versus usual care in type 2 diabetes patients treated with oral agents: results of a randomized trial

Author

Musacchio, N, Ciullo, I, Scardapane, M, Giancaterini, A, Pessina, L, Maino, S, Gaiofatto, R, Nicolucci, A, Rossi, M, Valentini, U, Cimino, A, Agosti, B, Zarra, E, Magri, A, Pellegrini, M, Pellarini, L, Sciangula, L, Nappi, F, Ciucci, A, Grassa, B, De Marco, R, Olivo, E, Trevisan, R, Frosio, I, Morlini, C, Corsi, A, Dodesini, A, Grassi, G, Calvi, E, Capello, E, Gramaglia, E, Ramella, V, De Rossi, C, Mengozzi, G, Orsi, E, Lunati, M, Palmieri, E, Resi, V, Grancini, V, Giarratana, L, Ragonese, M, Slongo, R, Scoponi, C, Tonolo, G, Amadori, G, Becciu, A, Canu, L, Cherchi, S, Paciotti, V, Alfidi, P, Babini, A, Ripani, R, Cantelli, R, Rossi, P, Di Cianni, G, Russo, L, Lemmi, P, Sannino, C, Marconi, S, Di Bartolo, P, Pellicano, F, Scolozzi, P, Annese, S, Lorizzo, F, Coppolino, A, Peditto, G, De Feo, M, Piscopo, G, Varriale, A, De Candia, L, Ceci, A, Elia, G, Falzone, G, Schembari, R, Citro, G, Di Mauro, M, D'Urso, C, Caruso, C, Musacchio N., Ciullo I., Scardapane M., Giancaterini A., Pessina L., Maino S., Gaiofatto R., Nicolucci A., Rossi M. C., Valentini U., Cimino A., Agosti B., Zarra E., Magri A., Pellegrini M. A., Pellarini L., Sciangula L., Nappi F., Ciucci A., Grassa B., De Marco R., Olivo E. S., Trevisan R., Frosio I., Morlini C., Corsi A., Dodesini A. R., Grassi G., Calvi E., Capello E., Gramaglia E., Ramella V., De Rossi C., Mengozzi G., Orsi E., Lunati M. E., Palmieri E., Resi V., Grancini V., Giarratana L., Ragonese M., Slongo R., Scoponi C., Tonolo G., Amadori G., Becciu A., Canu L., Cherchi S., Paciotti V., Alfidi P., Babini A., Ripani R., Cantelli R., Rossi P., Di Cianni G., Russo L., Lemmi P., Sannino C., Marconi S., Di Bartolo P., Pellicano F., Scolozzi P., Annese S., Lorizzo F., Coppolino A., Peditto G. C., De Feo M. E., Piscopo G., Varriale A., De Candia L., Ceci A., Elia G., Falzone G., Schembari R., Citro G., Di Mauro M., D'Urso C., Caruso C., Musacchio, N, Ciullo, I, Scardapane, M, Giancaterini, A, Pessina, L, Maino, S, Gaiofatto, R, Nicolucci, A, Rossi, M, Valentini, U, Cimino, A, Agosti, B, Zarra, E, Magri, A, Pellegrini, M, Pellarini, L, Sciangula, L, Nappi, F, Ciucci, A, Grassa, B, De Marco, R, Olivo, E, Trevisan, R, Frosio, I, Morlini, C, Corsi, A, Dodesini, A, Grassi, G, Calvi, E, Capello, E, Gramaglia, E, Ramella, V, De Rossi, C, Mengozzi, G, Orsi, E, Lunati, M, Palmieri, E, Resi, V, Grancini, V, Giarratana, L, Ragonese, M, Slongo, R, Scoponi, C, Tonolo, G, Amadori, G, Becciu, A, Canu, L, Cherchi, S, Paciotti, V, Alfidi, P, Babini, A, Ripani, R, Cantelli, R, Rossi, P, Di Cianni, G, Russo, L, Lemmi, P, Sannino, C, Marconi, S, Di Bartolo, P, Pellicano, F, Scolozzi, P, Annese, S, Lorizzo, F, Coppolino, A, Peditto, G, De Feo, M, Piscopo, G, Varriale, A, De Candia, L, Ceci, A, Elia, G, Falzone, G, Schembari, R, Citro, G, Di Mauro, M, D'Urso, C, Caruso, C, Musacchio N., Ciullo I., Scardapane M., Giancaterini A., Pessina L., Maino S., Gaiofatto R., Nicolucci A., Rossi M. C., Valentini U., Cimino A., Agosti B., Zarra E., Magri A., Pellegrini M. A., Pellarini L., Sciangula L., Nappi F., Ciucci A., Grassa B., De Marco R., Olivo E. S., Trevisan R., Frosio I., Morlini C., Corsi A., Dodesini A. R., Grassi G., Calvi E., Capello E., Gramaglia E., Ramella V., De Rossi C., Mengozzi G., Orsi E., Lunati M. E., Palmieri E., Resi V., Grancini V., Giarratana L., Ragonese M., Slongo R., Scoponi C., Tonolo G., Amadori G., Becciu A., Canu L., Cherchi S., Paciotti V., Alfidi P., Babini A., Ripani R., Cantelli R., Rossi P., Di Cianni G., Russo L., Lemmi P., Sannino C., Marconi S., Di Bartolo P., Pellicano F., Scolozzi P., Annese S., Lorizzo F., Coppolino A., Peditto G. C., De Feo M. E., Piscopo G., Varriale A., De Candia L., Ceci A., Elia G., Falzone G., Schembari R., Citro G., Di Mauro M., D'Urso C., and Caruso C.

Published
2018

9. The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

Author

Xie, J, Liu, L., Mladkova, N., Li, Yifu, Ren, H., Wang, W., Cui, Z., Lin, L., Hu, X., Yu, X, Xu, J, Liu, G., Caliskan, Y., Sidore, C., Balderes, O., Rosen, R.J., Bodria, M., Zanoni, F., Zhang, J.Y., Krithivasan, P., Mehl, K., Marasa, M., Khan, A., Ozay, F., Canetta, P.A., Bomback, A.S., Appel, G.B., Sanna-Cherchi, S., Sampson, M.G., Mariani, L.H., Perkowska-Ptasinska, A., Durlik, M., Mucha, K., Moszczuk, B., Foroncewicz, B., Paczek, L., Habura, I., Ars, E., Ballarin, J., Mani, L.Y., Vogt, B., Ozturk, S., Yildiz, A., Seyahi, N., Arikan, H., Koc, M., Basturk, T., Karahan, G., Akgul, S.U., Sever, M.S., Zhang, D., Santoro, D., Bonomini, M., Londrino, F., Gesualdo, L., Reiterova, J., Tesar, V., Izzi, C., Savoldi, S., Spotti, D., Marcantoni, C., Messa, P., Galliani, M., Roccatello, D., Granata, S., Zaza, G., Lugani, F., Ghiggeri, G., Pisani, I., Allegri, L., Sprangers, B., Park, J.H., Cho, B., Kim, Y.S., Kim, D.K., Suzuki, H, Amoroso, A., Cattran, D.C., Fervenza, F.C., Pani, A., Hamilton, P., Harris, S., Gupta, S., Cheshire, C., Dufek, S., Issler, N., Pepper, R.J., Connolly, J., Powis, S., Bockenhauer, D., Stanescu, H.C., Ashman, N., Loos, R.J., Kenny, E.E., Wuttke, M., Eckardt, K.U., Kottgen, A., Hofstra, J.M., Coenen, M.J.H., Kiemeney, L.A.L.M., Wetzels, J., Chen, N., Kiryluk, K., Xie, J, Liu, L., Mladkova, N., Li, Yifu, Ren, H., Wang, W., Cui, Z., Lin, L., Hu, X., Yu, X, Xu, J, Liu, G., Caliskan, Y., Sidore, C., Balderes, O., Rosen, R.J., Bodria, M., Zanoni, F., Zhang, J.Y., Krithivasan, P., Mehl, K., Marasa, M., Khan, A., Ozay, F., Canetta, P.A., Bomback, A.S., Appel, G.B., Sanna-Cherchi, S., Sampson, M.G., Mariani, L.H., Perkowska-Ptasinska, A., Durlik, M., Mucha, K., Moszczuk, B., Foroncewicz, B., Paczek, L., Habura, I., Ars, E., Ballarin, J., Mani, L.Y., Vogt, B., Ozturk, S., Yildiz, A., Seyahi, N., Arikan, H., Koc, M., Basturk, T., Karahan, G., Akgul, S.U., Sever, M.S., Zhang, D., Santoro, D., Bonomini, M., Londrino, F., Gesualdo, L., Reiterova, J., Tesar, V., Izzi, C., Savoldi, S., Spotti, D., Marcantoni, C., Messa, P., Galliani, M., Roccatello, D., Granata, S., Zaza, G., Lugani, F., Ghiggeri, G., Pisani, I., Allegri, L., Sprangers, B., Park, J.H., Cho, B., Kim, Y.S., Kim, D.K., Suzuki, H, Amoroso, A., Cattran, D.C., Fervenza, F.C., Pani, A., Hamilton, P., Harris, S., Gupta, S., Cheshire, C., Dufek, S., Issler, N., Pepper, R.J., Connolly, J., Powis, S., Bockenhauer, D., Stanescu, H.C., Ashman, N., Loos, R.J., Kenny, E.E., Wuttke, M., Eckardt, K.U., Kottgen, A., Hofstra, J.M., Coenen, M.J.H., Kiemeney, L.A.L.M., Wetzels, J., Chen, N., and Kiryluk, K.

Abstract

Contains fulltext : 220480.pdf (publisher's version ) (Open Access), Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.25, P = 3.4 x 10(-12)) and IRF4 (rs9405192, OR = 1.29, P = 1.4 x 10(-14)), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 x 10(-103)) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 x 10(-49)), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 x 10(-93)), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 x 10(-23) and OR = 3.39, P = 5.2 x 10(-82), respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20-37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk.

Published
2020

10. Mutations in DSTYK and Dominant Urinary Tract Malformations

Author

Sanna-Cherchi, S., Sampogna, R. V., Papeta, N., Burgess, K. E., Nees, S. N., Perry, B. J., Choi, M., Bodria, M., Liu, Y., Weng, P. L., Lozanovski, V. J., Verbitsky, M., Lugani, F., Sterken, R., Paragas, N., Caridi, G., Carrea, A., Dagnino, M., Materna-Kiryluk, A., Santamaria, G., Murtas, C., Ristoska-Bojkovska, N., Izzi, C., Kacak, N., Bianco, B., Giberti, S., Gigante, M., Piaggio, G., Gesualdo, L., Kosuljandic Vukic, D., Vukojevic, K., Saraga-Babic, M., Saraga, M., Gucev, Z., Allegri, L., Latos-Bielenska, A., Casu, D., State, M., Scolari, F., Ravazzolo, R., Kiryluk, K., Al-Awqati, Q., DʼAgati, V. D., Drummond, I. A., Tasic, V., Lifton, R. P., Ghiggeri, G. M., and Gharavi, A. G.

Published
2013
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11. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract (Nature Genetics, (2019), 51, 1, (117-127), 10.1038/s41588-018-0281-y)

Author

Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P., Mitrotti, A., Fasel, D. A., Batourina, E., Sampson, M. G., Bodria, M., Werth, M., Kao, C., Martino, J., Capone, V. P., Vivante, A., Shril, S., Kil, B. H., Marasa, M., Zhang, J. Y., Y. -J., Na, Lim, T. Y., Ahram, D., Weng, P. L., Heinzen, E. L., Carrea, A., Piaggio, G., Gesualdo, L., Manca, V., Masnata, G., Gigante, M., Cusi, D., Izzi, C., Scolari, F., van Wijk, J. A. E., Saraga, M., Santoro, D., Conti, G., Zamboli, P., White, H., Drozdz, D., Zachwieja, K., Miklaszewska, M., Tkaczyk, M., Tomczyk, D., Krakowska, A., Sikora, P., Jarmolinski, T., Borszewska-Kornacka, M. K., Pawluch, R., Szczepanska, M., Adamczyk, P., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Dobson, M. G., Darlow, J. M., Puri, P., Barton, D. E., Furth, S. L., Warady, B. A., Gucev, Z., Lozanovski, V. J., Tasic, V., Pisani, I., Allegri, L., Rodas, L. M., Campistol, J. M., Jeanpierre, C., Alam, S., Casale, P., Wong, C. S., Lin, F., Miranda, D. M., Oliveira, E. A., Simoes-e-Silva, A. C., Barasch, J. M., Levy, B., Wu, N., Hildebrandt, F., Ghiggeri, G. M., Latos-Bielenska, A., Materna-Kiryluk, A., Zhang, F., Hakonarson, H., Papaioannou, V. E., Mendelsohn, C. L., Gharavi, A. G., and Sanna-Cherchi, S.

Subjects
renal, genetics, cakut
Published
2019

17. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

Author

Ven, A.T. van der, Connaughton, D.M., Ityel, H., Mann, N., Nakayama, M., Chen, J., Vivante, A., Hwang, D.Y., Schulz, J, Braun, D.A., Schmidt, J.M., Schapiro, D., Schneider, R., Warejko, J.K., Daga, A., Majmundar, A.J., Tan, W., Jobst-Schwan, T., Hermle, T., Widmeier, E., Ashraf, S., Amar, A., Hoogstraten, C.A., Hugo, H., Kitzler, T.M., Kause, F., Kolvenbach, C.M., Dai, R., Spaneas, L., Amann, K., Stein, D.R., Baum, M.A., Somers, M.J.G., Rodig, N.M., Ferguson, M.A., Traum, A.Z., Daouk, G.H., Bogdanovic, R., Stajic, N., Soliman, N.A., Kari, J.A., Desoky, S. El, Fathy, H.M., Milosevic, D., Al-Saffar, M., Awad, H.S., Eid, L.A., Selvin, A., Senguttuvan, P., Sanna-Cherchi, S., Rehm, H.L., MacArthur, D.G., Lek, M., Laricchia, K.M., Wilson, M.W., Mane, S.M., Lifton, R.P., Lee, R.S., Bauer, S.B., Lu, W., Reutter, H.M., Tasic, V., Shril, S., Hildebrandt, F., Ven, A.T. van der, Connaughton, D.M., Ityel, H., Mann, N., Nakayama, M., Chen, J., Vivante, A., Hwang, D.Y., Schulz, J, Braun, D.A., Schmidt, J.M., Schapiro, D., Schneider, R., Warejko, J.K., Daga, A., Majmundar, A.J., Tan, W., Jobst-Schwan, T., Hermle, T., Widmeier, E., Ashraf, S., Amar, A., Hoogstraten, C.A., Hugo, H., Kitzler, T.M., Kause, F., Kolvenbach, C.M., Dai, R., Spaneas, L., Amann, K., Stein, D.R., Baum, M.A., Somers, M.J.G., Rodig, N.M., Ferguson, M.A., Traum, A.Z., Daouk, G.H., Bogdanovic, R., Stajic, N., Soliman, N.A., Kari, J.A., Desoky, S. El, Fathy, H.M., Milosevic, D., Al-Saffar, M., Awad, H.S., Eid, L.A., Selvin, A., Senguttuvan, P., Sanna-Cherchi, S., Rehm, H.L., MacArthur, D.G., Lek, M., Laricchia, K.M., Wilson, M.W., Mane, S.M., Lifton, R.P., Lee, R.S., Bauer, S.B., Lu, W., Reutter, H.M., Tasic, V., Shril, S., and Hildebrandt, F.

Abstract

1 september 2018, Item does not contain fulltext, BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life. Previous gene panel studies showed monogenic causation in up to 12% of patients with CAKUT. METHODS: We applied whole-exome sequencing to analyze the genotypes of individuals from 232 families with CAKUT, evaluating for mutations in single genes known to cause human CAKUT and genes known to cause CAKUT in mice. In consanguineous or multiplex families, we additionally performed a search for novel monogenic causes of CAKUT. RESULTS: In 29 families (13%), we detected a causative mutation in a known gene for isolated or syndromic CAKUT that sufficiently explained the patient's CAKUT phenotype. In three families (1%), we detected a mutation in a gene reported to cause a phenocopy of CAKUT. In 15 of 155 families with isolated CAKUT, we detected deleterious mutations in syndromic CAKUT genes. Our additional search for novel monogenic causes of CAKUT in consanguineous and multiplex families revealed a potential single, novel monogenic CAKUT gene in 19 of 232 families (8%). CONCLUSIONS: We identified monogenic mutations in a known human CAKUT gene or CAKUT phenocopy gene as the cause of disease in 14% of the CAKUT families in this study. Whole-exome sequencing provides an etiologic diagnosis in a high fraction of patients with CAKUT and will provide a new basis for the mechanistic understanding of CAKUT.

Published
2018

18. Serum metabolomic profiles suggest influence of sex and oral contraceptive use

Author

Ruoppolo, M., ILARIA CAMPESI, Scolamiero, E., Pecce, R., Caterino, M., Cherchi, S., Mercuro, G., Tonolo, G., Franconi, F., Ruoppolo, Margherita, Campesi, I, Scolamiero, E, Pecce, R, Caterino, Marianna, Cherchi, S, Mercuro, G, Tonolo, G, and Franconi, F.

Abstract

Background The effects of sex and oral contraceptives (OCs) on blood metabolites have been scarcely studied. Considering the widespread use of OCs and the fact that protocol designs for clinical trials emphasise the use of contraception for women of childbearing potential, we examined if OCs and sex affect the serum levels of the physiologically relevant amino acids, carnitine and acylcarnitines, using metabolomics approaches. Methods Thirty-five healthy adult men and 67 women aged between 20 and 47 years were enrolled. They were drug free with the exception of women taking cyclic format OCs that contained ethinylestradiol and different progestins. OC-free women were analysed during the first ten days of their menstrual cycles, and amino acids, free carnitine and acylcarnitines were measured using HPLC or LC/MS/MS. Results The serum levels of alanine, serine, aspartic acid, arginine and taurine were not significantly different among the analysed groups. Men had significantly higher leucine, isoleucine, methionine, phenylalanine, asparagine, glutamine + glutamate, and histidine than women who did not use OCs, while tryptophan was significantly lower in men. OC use significantly decreased the levels of glycine, proline, glutamine + glutamate, lysine, hydroxyproline and ornitine when compared with non-user women. The level of free carnitine was higher in men than in women; in addition, OC use further reduced the levels of carnitine in women although the reduction is not significant. Total esterified carnitines were higher in untreated women when compared with that of men and OC users. Globally, the effect of OCs and sex was specific for the individual esterified carnitine. The observed metabolic changes were not attributable to renal or hepatic functions or to differences in body weight. Conclusion The assessed parameters were specifically influenced by sex, highlighting the need to have reference values for women and men. The major novelty of this study is the demonstration that OCs specifically change the profiles of serum amino acids and carnitine, which suggests that OC users and non-users should be represented in clinical trials.

Published
2014

23. Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

Author

Westland, R., Verbitsky, M., Vukojevic, K., Perry, B.J., Fasel, D.A., Zwijnenburg, P.J., Bokenkamp, A., Gille, J.J.P., Saraga-Babic, M., Ghiggeri, G.M., D'Agati, V.D., Schreuder, M.F., Gharavi, A.G., Wijk, J.A. van, Sanna-Cherchi, S., Westland, R., Verbitsky, M., Vukojevic, K., Perry, B.J., Fasel, D.A., Zwijnenburg, P.J., Bokenkamp, A., Gille, J.J.P., Saraga-Babic, M., Ghiggeri, G.M., D'Agati, V.D., Schreuder, M.F., Gharavi, A.G., Wijk, J.A. van, and Sanna-Cherchi, S.

Abstract

Item does not contain fulltext, Copy number variations associate with different developmental phenotypes and represent a major cause of congenital anomalies of the kidney and urinary tract (CAKUT). Because rare pathogenic copy number variations are often large and contain multiple genes, identification of the underlying genetic drivers has proven to be difficult. Here we studied the role of rare copy number variations in 80 patients from the KIMONO study cohort for which pathogenic mutations in three genes commonly implicated in CAKUT were excluded. In total, 13 known or novel genomic imbalances in 11 of 80 patients were absent or extremely rare in 23,362 population controls. To identify the most likely genetic drivers for the CAKUT phenotype underlying these rare copy number variations, we used a systematic in silico approach based on frequency in a large data set of controls, annotation with publicly available databases for developmental diseases, tolerance and haploinsufficiency scores, and gene expression profile in the developing kidney and urinary tract. Five novel candidate genes for CAKUT were identified that showed specific expression in the human and mouse developing urinary tract. Among these genes, DLG1 and KIF12 are likely novel susceptibility genes for CAKUT in humans. Thus, there is a significant role of genomic imbalance in the determination of kidney developmental phenotypes. Additionally, we defined a systematic strategy to identify genetic drivers underlying rare copy number variations.

Published
2015

24. Mutations in DSTYK and dominant urinary tract malformations

Author

Sanna Cherchi, S, Sampogna, Rv, Papeta, N, Burgess, Ke, Nees, Sn, Perry, Bj, Choi, M, Bodria, M, Liu, Y, Weng, Pl, Lozanovski, Vj, Verbitsky, M, Lugani, F, Sterken, R, Paragas, N, Caridi, G, Carrea, A, Dagnino, M, Materna Kiryluk, A, Santamaria, G, Murtas, C, Ristoska Bojkovska, N, Izzi, C, Kacak, N, Bianco, B, Giberti, S, Gigante, M, Piaggio, G, Gesualdo, L, Kosuljandic Vukic, D, Vukojevic, K, Saraga Babic, M, Saraga, M, Gucev, Z, Allegri, L, Latos Bielenska, A, Casu, D, State, M, Scolari, F, Ravazzolo, Roberto, Kiryluk, K, Al Awqati, Q, D'Agati, Vd, Drummond, Ia, Tasic, V, Lifton, Rp, Ghiggeri, Gm, and Gharavi, Ag

Subjects
Male, Kidney Disease, Genetic Linkage, 030232 urology & nephrology, Genome-wide association study, Bioinformatics, medicine.disease_cause, Fibroblast growth factor, Kidney, Medical and Health Sciences, Mice, 0302 clinical medicine, 2.1 Biological and endogenous factors, Exome, RNA, Small Interfering, Aetiology, Urinary Tract, Child, Pediatric, 0303 health sciences, Mutation, General Medicine, 3. Good health, Pedigree, medicine.anatomical_structure, Receptor-Interacting Protein Serine-Threonine Kinases, Gene Knockdown Techniques, Female, Biotechnology, Adult, Urologic Diseases, Heterozygote, Urinary system, 1.1 Normal biological development and functioning, Molecular Sequence Data, Renal and urogenital, Small Interfering, 03 medical and health sciences, Young Adult, Clinical Research, Underpinning research, General & Internal Medicine, medicine, Genetics, Animals, Humans, 030304 developmental biology, Base Sequence, business.industry, Human Genome, Infant, Heterozygote advantage, Urogenital Abnormalities, Etiology, RNA, Congenital Structural Anomalies, business, Genome-Wide Association Study
Abstract

BackgroundCongenital abnormalities of the kidney and the urinary tract are the most common cause of pediatric kidney failure. These disorders are highly heterogeneous, and the etiologic factors are poorly understood.MethodsWe performed genomewide linkage analysis and whole-exome sequencing in a family with an autosomal dominant form of congenital abnormalities of the kidney or urinary tract (seven affected family members). We also performed a sequence analysis in 311 unrelated patients, as well as histologic and functional studies.ResultsLinkage analysis identified five regions of the genome that were shared among all affected family members. Exome sequencing identified a single, rare, deleterious variant within these linkage intervals, a heterozygous splice-site mutation in the dual serine-threonine and tyrosine protein kinase gene (DSTYK). This variant, which resulted in aberrant splicing of messenger RNA, was present in all affected family members. Additional, independent DSTYK mutations, including nonsense and splice-site mutations, were detected in 7 of 311 unrelated patients. DSTYK is highly expressed in the maturing epithelia of all major organs, localizing to cell membranes. Knockdown in zebrafish resulted in developmental defects in multiple organs, which suggested loss of fibroblast growth factor (FGF) signaling. Consistent with this finding is the observation that DSTYK colocalizes with FGF receptors in the ureteric bud and metanephric mesenchyme. DSTYK knockdown in human embryonic kidney cells inhibited FGF-stimulated phosphorylation of extracellular-signal-regulated kinase (ERK), the principal signal downstream of receptor tyrosine kinases.ConclusionsWe detected independent DSTYK mutations in 2.3% of patients with congenital abnormalities of the kidney or urinary tract, a finding that suggests that DSTYK is a major determinant of human urinary tract development, downstream of FGF signaling. (Funded by the National Institutes of Health and others.).

Published
2013

26. Intensive Structured Self-Monitoring of Blood Glucose and Glycemic Control in Noninsulin-Treated Type 2 Diabetes: The PRISMA Randomized Trial

Author

Bosi, E, Scavini, M, Ceriello, A, Cucinotta, D, Tiengo, A, Marino, R, Bonizzoni, E, Giorgino, F, on behalf of the PRISMA Study Group, Trevisan, R, Dodesini, Ar, Corsi, A, Sciangula, L, Ciucci, A, Olivo, Es, Tonutti, L, Boscariol, C, Armellini, M, Pozzilli, P, Maurizi, Ar, Manfrini, S, Napoli, N, Tuccinardi, D, Ghirlanda, G, Gagliardi, L, Ranalli, L, Zaccuri, S, Giorgianni, L, Guarnieri, G, Di Bartolo, P, Pellicano, F, Scolozzi, P, Leotta, S, Fontana, L, Tonolo, G, Cherchi, S, Canu, L, Foglini, P, Maricotti, R, Tortato, E, Pianti, C, Madaschi, S, Tortul, C, Da Ros, R, Muraro, R, Ansaldi, E, Cacciola, S, Cignarelli, M, Lamacchia, O, Nizzoli, M, Buci, L, Calatola, P, Clemente, G, Caputo, A, Mollo, F, Friogato, G, Rampini, A, Morpurgo, P, Bonino, G, Vita, Mg, Laviola, L, Gnasso, A, Carallo, C, Calabria, M, Beltramello, G, Marangoni, A, Cattaneo, A, Guido, R, Massidda, A, Meloni, G, Bonomo, Ma, Pizzi, G, Camerini, M, Provenzano, V, Ferrara, L, Provenzano, F, Paccagnella, A, Sambataro, M, Almoto, B, Baroni, Mg, Cossu, E, Zedde, A, Consoli, A, Di Fulvio, P, Dotta, Francesco, Guarino, E, Annuzzi, G, Bozzeto, L, Cicioni, G, Calabrese, M, Guizzotti, S, Cabasino, F, Farci, F, Ghiani, M, Tubili, C, Nardone, Mr, Candido, R, Tommasi, E, Jagodnik, G, Strazzabosco, M, Mesturino, Ca, Santeusanio, F, Torlone, E, and Annone, S.

Published
2013

28. Intensive structured self-monitoring of blood glucose and glycemic control in noninsulin-treated type 2 diabetes: The PRISMA randomized trial

Author

Bosi, E., Scavini, M., Ceriello, A., Cucinotta, D., Tiengo, A., Marino, R., Bonizzoni, E., Giorgino, F., Group Collaborators: Trevisan, Prisma Study R., Dodesini, A. R., Corsi, A., Sciangula, L., Ciucci, A., Olivo, E. S., Tonutti, L., Boscariol, C., Armellini, M., Pozzilli, P., Maurizi, A. R., Manfrini, S., Napoli, N., Tuccinardi, D., Ghirlanda, G., Gagliardi, L., Ranalli, L., Zaccuri, S., Giorgianni, L., Guarnieri, G., Di Bartolo, P., Pellicano, F., Scolozzi, P., Leotta, S., Fontana, L., Tonolo, G., Cherchi, S., Canu, L., Foglini, P., Maricotti, R., Tortato, E., Pianti, C., Madaschi, S., Tortul, C., Da Ros, R., Muraro, R., Ansaldi, E., Cacciola, S., Cignarelli, M., Lamacchia, O., Nizzoli, M., Buci, L., Calatola, P., Clemente, G., Caputo, A., Mollo, F., Friogato, G., Rampini, A., Morpurgo, P., Bonino, G., Vita, M. G., Laviola, L., Gnasso, A., Carallo, C., Calabria, M., Beltramello, G., Marangoni, A., Cattaneo, A., Guido, R., Massidda, A., Meloni, G., Bonomo, M. A., Pizzi, G., Camerini, M., Provenzano, V., Ferrara, L., Provenzano, F., Paccagnella, A., Sambataro, M., Almoto, B., Baroni, Marco Giorgio, Cossu, E., Zedde, A., Consoli, A., Di Fulvio, P., Dotta, Francesco, Guarino, E., Annuzzi, G., Bozzeto, L., Cicioni, G., Calabrese, M., Guizzotti, S., Cabasino, F., Farci, F., Ghiani, M., Tubili, C., Nardone, M. R., Candido, R., Tommasi, E., Jagodnik, G., Strazzabosco, M., Mesturino, C. A., Santeusanio, F., Torlone, E., and Annone, S.

Published
2013

29. Duplication of the SOX3gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

Author

Tasic, V, Mitrotti, A, Riepe, FG, Kulle, AE, Laban, N, Polenakovic, M, Plaseska-Karanfilska, D, Sanna-Cherchi, S, Kostovski, M, and Gucev, Z

Abstract

Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in multiple malformation syndromes. We describe the case of an 11-year-old Caucasian boy, with right kidney hypoplasia and hypospadias. Genome-wide copy number variation (CNV) analysis revealed a unique duplication of about 550 kb on chromosome Xq27, and a 46,XX karyotype, consistent with a sex reversal phenotype. This region includes multiple genes, and, among these, SOX3emerged as the main phenotypic driver. This is the fifth case reporting a genomic imbalance involving the SOX3gene in a 46,XX SRY-negative male, and the first with associated renal malformations. Our data provide plausible links between SOX3gene dosage and kidney malformations. It is noteworthy that the current and reported SOX3gene duplications are below the detection threshold of standard karyotypes and were found only by analyzing CNVs using DNA microarrays. Therefore, all 46,XX SRY-negative males should be screened for SOX3gene duplications with DNA microarrays.

Published
2019
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31. Clinical implications of the solitary functioning kidney

Author

Westland, R., Schreuder, M.F., Goudoever, J.B. van, Sanna-Cherchi, S., Wijk, J.A. van, Westland, R., Schreuder, M.F., Goudoever, J.B. van, Sanna-Cherchi, S., and Wijk, J.A. van

Abstract

Item does not contain fulltext, Congenital anomalies of the kidney and urinary tract are the major cause of ESRD in childhood. Children with a solitary functioning kidney form an important subgroup of congenital anomalies of the kidney and urinary tract patients, and a significant fraction of these children is at risk for progression to CKD. However, challenges remain in distinguishing patients with a high risk for disease progression from those patients without a high risk of disease progression. Although it is hypothesized that glomerular hyperfiltration in the lowered number of nephrons underlies the impaired renal prognosis in the solitary functioning kidney, the high proportion of ipsilateral congenital anomalies of the kidney and urinary tract in these patients may further influence clinical outcome. Pathogenic genetic and environmental factors in renal development have increasingly been identified and may play a crucial role in establishing a correct diagnosis and prognosis for these patients. With fetal ultrasound now enabling prenatal identification of individuals with a solitary functioning kidney, an early evaluation of risk factors for renal injury would allow for differentiation between patients with and without an increased risk for CKD. This review describes the underlying causes and consequences of the solitary functioning kidney from childhood together with its clinical implications. Finally, guidelines for follow-up of solitary functioning kidney patients are recommended.

Published
2014

37. CYSTIC DISEASE AND CILIOPATHIES

Author

Hoshino, J., primary, Suwabe, T., additional, Sumida, K., additional, Mise, K., additional, Hayami, N., additional, Kawada, M., additional, Imafuku, A., additional, Hiramatsu, R., additional, Hasegawa, E., additional, Sawa, N., additional, Ubara, Y., additional, Takaichi, K., additional, Yamamoto, J., additional, Ishikawa, Y., additional, Nakagaki, T., additional, Shibazaki, S., additional, Nishio, S., additional, Atsumi, T., additional, Westland, R., additional, Verbitsky, M., additional, Vukojevic, K., additional, Perry, B. J., additional, Fasel, D. A., additional, Zwijnenburg, P. J. G., additional, Gille, J. J. P., additional, Bokenkamp, A., additional, D'Agati, V. D., additional, Gharavi, A. G., additional, Schreuder, M. F., additional, Van Wijk, J. A. E., additional, Sanna-Cherchi, S., additional, Rodriguez, D., additional, Riwanto, M., additional, Edenhofer, I., additional, Segerer, S., additional, Wuthrich, R. P., additional, Kapoor, S., additional, Raaijmakers, A. M. J., additional, Mekahli, D., additional, Van Dyck, M., additional, Corveleyn, A., additional, Allegaert, K., additional, Deviendt, K., additional, Kuypers, D., additional, Claes, K., additional, and Levtchenko, E. N., additional

Published
2014
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39. 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. 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Published
2013
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45. The decline of glomerular function is not always associated with the development of micro- and macroalbuminuria in hypertensive patients with type 2 diabetes

Author

Nosadini, R., primary, Carboni, A., additional, Manconi, A., additional, Angius, F., additional, Caria, S., additional, Cherchi, S., additional, Satta, A., additional, Faedda, R., additional, Obinu, D., additional, Nieddu, M., additional, Carraro, A., additional, and Tonolo, G. C., additional

Published
2008
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49. Sciaenacotyle panceri (Monogenea, Microcotylidae), un possibile fattore limitante per l’allevamento in gabbia dell’ombrina boccadoro (Argyrosomus regius) nel Mar Mediterraneo

Author

Cherchi, S., Merella, P., Andrea Gustinelli, Garippa, G., MARIALETIZIA FIORAVANTI, Cherchi S., Merella P., Gustinelli A., Garippa G., and Fioravanti M.L.

Subjects
Aquaculture, Meagre, Argyrosomus regius, Monogenea, Sciaenacotyle panceri, Outbreak
Abstract

Blood-feeding polyopisthocotylean monogeneans are one of the most important group among the emerging parasites of cultured marine fish. The pathogenic effect of these parasites may be increased by adverse environmental conditions or poor zootechnical management, favouring infections and epizootics. The meagre Argyrosomus regius is a species with an increasing importance in Mediterranean aquaculture, because of its great potential for the diversification of productions. In May 2007, two groups of meagre were put together in one offshore floating cage sited in northeastern Sardinia (western Mediterranean Sea). In September 2007 the fish showed non-specific disease signs, such as lethargy, emaciation, gill anaemia and mortality. From September 2007 to January 2008, 65 specimens of meagre of both groups were sampled for parasitological and microbiological analyses. Only one single species of parasite, the microcotylid monogenean Sciaenacotyle panceri, was found on the gills. No other protozoan or metazoan parasites were found and no bacteria or viruses were isolated. The infection peaked suddenly in both groups in September and part of October 2007, with all hosts infected by several hundred of worms. In the following months prevalence remained high (60-70%) while the intensity of infection decreased noticeably to few units. After the outbreak, a total mortality rate of 5-10% was estimated for the older fish group, while no noteworthy mortality was recorded in the other fish. At histology, the parasites were observed grasping the gill lamellae with an evident traumatic effect on the tissue up to amputation of lamellae. In some cases the total “stripping” of the gill filament was observed. The presence of Sciaenacotyle panceri on Argyrosomus regius has been rarely reported. Previously it was reported only from a single specimen of this fish species in the Gulf of Tunis, while all the other reports were referred to the shi drum Umbrina cirrosa in the Mediterranean Sea and eastern Atlantic Ocean. This is the first account of Sciaenacotyle panceri on the gills of cultured meagre as causative agent of disease and mortality. The presence of this parasite points out the need for improving the control strategies of the diseases of cultured meagre, and investigating the possible transfer of microcotylids from wild to caged fish.

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