37 results on '"Murru, S."'
Search Results
2. 590 Biological and in-silico characterization of pyrazole and pyrazolone derivatives: Identifies novel anti-skin cancer, antioxidant and tyrosinase inhibitory agents
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Boateng, S.T., primary, Roy, T., additional, Torrey, K., additional, Banang-Mbeumi, S., additional, Aryal, D., additional, Murru, S., additional, Ma, H., additional, and Chamcheu, J.C., additional
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- 2022
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3. A peculiar family with recurrent self-limited epileptic syndrome and associated developmental disorders in six girls
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Cursio, I., primary, Ronzano, N., additional, Asunis, M., additional, Dettori, M.S., additional, Cossu, S., additional, Murru, S., additional, Cau, M., additional, Incani, F., additional, Mei, D., additional, Bianchini, C., additional, Scioni, M., additional, and Pruna, D., additional
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- 2022
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4. A genetic epidemiology study of congenital adrenal hyperplasia in Italy
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Gialluisi, A., primary, Menabò, S., additional, Baldazzi, L., additional, Casula, L., additional, Meloni, A., additional, Farci, M. C., additional, Mariotti, S., additional, Balestrino, L., additional, Ortolano, R., additional, Murru, S., additional, Carcassi, C., additional, Loche, S., additional, Balsamo, A., additional, and Romeo, G., additional
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- 2017
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5. La GAS (Gene Assisted Selection) per il miglioramento delle caratteristiche quali-quantitative del latte di capra
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Ramunno, L., Pauciullo, Alfredo, Rando, A., Crepaldi, P., Pilla, F., Gallo, D., Colimoro, L, D’Avino, A, Murru, S., Fresi, P., Capogreco, B., DE NARDO, F., Masina, P., Cosenza, G., DI BERARDINO, D., Ramunno, L., Pauciullo, A., Rando, A., Crepaldi, P., Pilla, F., Gallo, Daniela, Colimoro, L, D’Avino, A, Murru, S., Fresi, P., Capogreco, B., DE NARDO, F., Masina, P., Cosenza, Gianfranco, and DI BERARDINO, D.
- Subjects
GAS ,capra ,latte - Abstract
La capra è tra le specie di interesse zootecnico, un esempio unico di variabilità nell’espressione dei geni CSN1S1, CSN2 e CSN1S2 che codificano per le caseine αs1, β e αs2. Il polimorfismo della caseina αs1 è dovuto alla presenza di almeno 16 alleli che sulla base del contenuto di tale frazione nel latte possono essere classificati in 4 gruppi: alleli forti (~3,5 g/L),medi (~1,1 g/L), deboli (~0,45 g/L), e nulli (per una review Cosenza et al., 2008). Analogalmente, le differenze individuali d’espressione al locus CSN2 sono determinate dalla presenza di almeno 8 alleli associati a 2 livelli quantitativi: normale (~5 g/l) e nullo (per una review Cosenza et al., 2007), mentre al locus CSN1S2 sono noti 7 alleli responsabili di 3 livelli di espressione: normale (~2,5 g/l), ridotto (~1,5 g/l) e nullo (per una review Ramunno et al., 2001). È stato dimostrato che tali differenze non hanno effetto solo sul contenuto di proteine nel latte, ma anche sul diametro e sul contenuto in calcio delle micelle proteiche, con conseguenze sulla resa casearia e sulle caratteristiche tecnologiche del latte (Remuef, 1993; Ramunno et al., 1995). L’individuazione degli eventi molecolari responsabili di tali differenze ha reso possibile l’utilizzazione di tali geni (Selezione Assistita da Geni, GAS) per il miglioramento delle caratteristiche quali-quantitative del latte di capra. Obiettivo del presente lavoro, realizzato nell’ambito di un progetto Mipaf di rilevanza nazionale (SelMol), è stato quello di determinare il genotipo ai loci delle caseine Ca-sensibili di becchi appartenenti ad alcune razze allevate in Italia destinati ad FA.
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- 2010
6. Italian Goat Consortium: 50K BeadChip analyses in autochthonous goat breeds
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Nicoloso, L., Coizet, B., Negrini, R., Mazza, R., Chessa, S., Castiglioni, B., Pagnacco, G., Marletta, Donata, Ajmone Marsan, P., Bacciu, N., Carta, A., Sechi, T., Murru, S., Valentini, A., D'Andrea, M., Pilla, F., and Crepaldi, P.
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- 2012
7. Molecular -thalassemia intermedia in patients of Italian descent andcharacterization of -thalassemia mutations.identification of three novel
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Murru S, Loudianos G, Deiana M, Sciarratta GV, Agosti S, Parodi MI, Cerruti P, Cao A, Pirastu M., CAMASCHELLA , CLARA, Murru, S, Loudianos, G, Deiana, M, Camaschella, Clara, Sciarratta, Gv, Agosti, S, Parodi, Mi, Cerruti, P, Cao, A, and Pirastu, M.
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- 1991
8. The C->T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta-thalassemia in the Italian population
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Ristaldi MS, Murru S, Loudianos G, Casula L, Porcu S, Pigheddu D, Fanni B, Sciarratta GV, Agosti S, Parodi MI, Leone D, Serra A, Pirastu M, Cao A., CAMASCHELLA , CLARA, Ristaldi, M, Murru, S, Loudianos, G, Casula, L, Porcu, S, Pigheddu, D, Fanni, B, Sciarratta, Gv, Agosti, S, Parodi, Mi, Leone, D, Camaschella, Clara, Serra, A, Pirastu, M, and Cao, A.
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- 1990
9. Gestational diabetes: clinical characteristics and birth weight
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Volpe, L., Di Cianni, G., Bottone, P., Orsini, P., Murru, S., Casadidio, I., Lorella Marselli, Benzi, L., and Navalesi, R.
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Adult ,Pregnancy ,Infant, Newborn ,Pregnancy in Diabetics ,Birth Weight ,Humans ,Female ,Fetal Macrosomia ,Retrospective Studies - Abstract
This retrospective study investigates the clinical characteristics of gestational diabetes mellitus (GDM) (time of diagnosis, different treatment, metabolic parameters, etc.) in relation to prepregnancy body mass index (BMI) and the influence of BMI on neonatal outcome. 93 GDM women and 110 control subjects were divided into three groups in relation to their prepregnancy BMI: normalweight (Nw), overweight (Ow) and obese (Ob). GDM was diagnosed significantly (p0.01) earlier in Ow and Ob than in Nw. Preterm deliveries and cesarean sections resulted significantly (p0.01) increased in all BMI categories of GDM respect to matched controls. Prevalence of neonatal macrosomia was higher in GDM patients (44.6%) compared with normal controls (15.4%) and correlated (p0.01) with prepregnancy BMI in both groups. Nevertheless in each BMI category the prevalence of macrosomia was significantly higher in GDM patients. The body weight increase during pregnancy was not associated with neonatal macrosomia. This study shows that prepregnancy BMI is an important risk factor for GDM and is predictive for macrosomia specially in women suffering from GDM.
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- 1997
10. Il drenaggio nelle anastomosi colonrettali basse. Analisi di una esperienza clinica
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Lorenzotti, A, Assenza, Marco, Consorti, F, Murru, S, and DI PAOLA, M.
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- 1995
11. A NEW DELTA CHAIN VARIANT HEMOGLOBIN-A2-CORFU OR ALPHA-2-DELTA-2 116 ARG-]CYS (G18), DETECTED BY DELTA-GLOBIN GENE ANALYSIS IN A GREEK FAMILY
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LOUDIANOS, G MURRU, S KANAVAKIS, E METAXOTOUMAVROMATI, A and THEODOROPOULOU, D KATTAMIS, C CAO, A PIRASTU, M
- Abstract
Hemoglobin A2-Corfu or alpha-2-delta-2 116 Arg –> Cys (G18) is a new delta-chain variant detected in a family of Greek descent by direct sequencing of amplified DNA.
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- 1991
12. A promoter mutation of the beta-globin gene (-101 C-->T) has an age- related expression pattern [letter]
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Murru, S, primary, Pischedda, MC, additional, Cao, A, additional, Rosatelli, MC, additional, Pirastu, M, additional, Sciarratta, GV, additional, Manca, L, additional, Gallisai, D, additional, and Toffoli, C, additional
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- 1993
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13. Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene
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Moi, P, primary, Loudianos, G, additional, Lavinha, J, additional, Murru, S, additional, Cossu, P, additional, Casu, R, additional, Oggiano, L, additional, Longinotti, M, additional, Cao, A, additional, and Pirastu, M, additional
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- 1992
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14. Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations
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Murru, S, primary, Loudianos, G, additional, Deiana, M, additional, Camaschella, C, additional, Sciarratta, GV, additional, Agosti, S, additional, Parodi, MI, additional, Cerruti, P, additional, Cao, A, additional, and Pirastu, M, additional
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- 1991
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15. A beta-thalassemia carrier with normal sequence within the beta-globin gene [letter]
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Murru, S, primary, Loudianos, G, additional, Cao, A, additional, Vaccargiu, S, additional, Pirastu, M, additional, Sciarratta, GV, additional, Agosti, S, additional, and Parodi, MI, additional
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- 1990
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16. A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype [letter]
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Ristaldi, MS, primary, Pirastu, M, additional, Murru, S, additional, Casula, L, additional, Loudianos, G, additional, Cao, A, additional, Sciarratta, GV, additional, Agosti, S, additional, Parodi, MI, additional, and Leone, D, additional
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- 1990
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17. Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent
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Casula, L, primary, Murru, S, additional, Pecorara, M, additional, Ristaldi, MS, additional, Restagno, G, additional, Mancuso, G, additional, Morfini, M, additional, De Biasi, R, additional, Baudo, F, additional, and Carbonara, A, additional
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- 1990
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18. 35th Annual Meeting of the European Association for the Study of Diabetes
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Melander, A., Olsson, J., Lindberg, G., Salzman, A., Howard, T., Stang, P., Lydick, E., Emslie-Smith, A., Boyle, D. I. R., Evans, J. M. M., Macdonald, T. M., Bain, J., Sullivan, F., Juhl, C., Pørksen, N., Sturis, J., Hollingdal, M., Pincus, S., Veldhuis, J., Dejgaard, A., Schmitz, O., Kristensen, J. S., Frandsen, K. B., Bayer, Th., Müller, P., Dunning, B. E., Paladini, S., Gutierrez, C., Deacon, R., Valentin, M., Grunberger, G., Weston, W. M., Patwardhan, R., Rappaport, E. B., Sargeant, L. A., Wareham, N. J., Khaw, K. T., Zethelius, Björn, Lithell, Hans, Hales, C. Nicholas, Berne, Christian, Lakka, H.-M., Oksanen, L., Tuomainen, T.-P., Kontula, K., Salonen, J. T., Dekker, J. M., de Boks, P., de Vegt, F., Stehouwer, C. D. A., Nijpels, G., Bouter, L. M., Heine, R. J., Bruno, G., Cavallo-Perin, P., Bargero, G., D’Errico, N., Borra, M., Macchia, G., Pagano, G., Newton, R. W., Ruta, D. A., New, J. P., Wallace, C., Roxburgh, M. A., Young, R. J., Vaughan, N. J. A., Elliott, P., Brennan, G., Devers, M., MacAlpine, R., Steinke, D., Lawson, D. H., Decallonne, B., Casteels, K., Gysemans, C., Bouillon, R., Mathieu, C., Linn, Thomas, Strate, Christine, Schneider, Kerstin, Funda, D. P., Jirsa, M., Kozáková, H., Kaas, A., Kofronová, O., Tlaskalová-Hogenová, H., Buschard, K., Wanka, H., Hartmann, A., Kuttler, B., Rasmussen, S. B., Sørensen, T. S., Markholst, H., Petersen, J. S., Karounos, D., Dyrberg, T., Mabley, J. G., Haskó, G., Szabó, C., Seissler, J., Nguyen, T. B. T., Steinbrenner, H., Scherbaum, W. A., Cipriani, R., Gabriele, A., Sensi, M., Guidobaldi, L., Pantellini, F., Cerrito, M. G., Scarpa, S., Di Mario, U., Morano, S., Ceolotto, G., Iori, E., Baritono, E., Del Prato, S., Semplicini, A., Trevisan, R., Zerbini, G., Meregalli, G., Asnaghi, V., Tentori, F., Maestroni, A., Mangili, R., Marescotti, C., Vedovato, M., Tiengo, A., Tadjieva, J., Mankovsky, B. N., Van Aken, S., Raes, A., Vande Walle, J., Matthys, D., Craen, M., Hansen, H. P., Lund, S. S., Rossing, P., Jensen, T., Parving, H.-H., Andersen, S., Tarnow, L., Hansen, B. V., Trautner, C., Haastert, B., Ennenbach, N., Willich, S., Tabák, Á. Gy., Orchard, T. J., Spranger, J., Preissner, K. T., Schatz, H., Pfeiffer, A., Cantón, A., Burgos, R., Hernández, C., Lecube, A., Mesa, J., Segura, R. M., Mateo, C., Simó, R., Fathallah, L., Greene, D. A., Obrosova, I., Gilbert, R. E., Kelly, D. J., Cox, A. J., Berka-Wilkinson, J. L., Taylor, H. R., Panagiotopoulos, S., Lee, V., Jerums, G., Cooper, M. E., Hitman, G. A., Aganna, E., Ogunkolade, W. B., Rema, M., Deepa, R., Shanthi-Rani, C. S., Barakat, K., Kumarajeewa, T. R., Cassell, P. G., McDermott, M. F., Mohan, V., Ways, K., Bursell, S., Devries, T., Woodworth, J., Alatorre, C., King, G., Aiello, L. P., Karisen, A. E., Pavlovic, D., Nielsen, K., Jensen, J., Andersen, H. U., Pociot, F., Mandrup-Poulsen, T., Eizirik, D. L., Nerup, J., Lortz, S., Tiedge, M., Lenzen, S., Lally, F. J., Bone, A. J., Darville, M. I., Ho, Y.-S., Sternesjö, J., Sandler, S., Chen, M.-C., Schuit, F., Pipeleers, D. G., Merezak, S., Hardikar, A., Hoet, J. J., Remacle, C., Reusens, B., Bréant, B., Garofano, A., Czernichow, P., Kubota, N., Terauchi, Y., Miki, H., Tamemoto, H., Yamauchi, T., Nakano, R., Komeda, K., Eto, K., Tobe, K., Kimura, S., Kadowaki, T., Ide, T., Murakami, K., Tsunoda, M., Mochizuki, T., Ozanne, S. E., Nave, B. T., Wang, C. L., Dorling, M. W., Petry, C. J., Koopmans, S. J., van der Bent, C., Que, I., Radder, J. K., Sebokova, E., Sana, A. K., Klimes, I., Ruderman, N., Morviducci, L., Pastore, L., Morelli, S., Sagratella, E., Zorretta, D., Buongiomo, A., Tamburrano, G., Giaccari, A., Martinenghi, Sabina, De Angelis, Gabriella Cusella, Ravasi, Flavio, Bifari, Francesco, Bordignon, Claudio, Falqui, Luca, Kessler, A., Dransfeld, O., Sasson, S., Tomas, E., Zorzano, A., Eckel, J., Thorsby, P., Rosenfalck, A. M., Kjems, L., Hanssen, K. F., Madsbad, S., Birkeland, K. I., Hamilton-Wessler, M., Markussen, J., Bergman, R. N., Melki, V., Hanaire-Broutin, H., Bessières-Lacombe, S., Tauber, J.-P., Home, P. D., Lindholm, A., Riis, A., Rosenstock, J., Schwartz, S., Clark, C., Edwards, M., Donley, D., Swift, P., Mortensen, H. B., Lynggaard, H., Hougaard, P., Cull, C. A., Neil, H. A. W., Frighi, V., Manley, S. E., Holman, R. R., Turner, R. C., Steiner, G., Davis, W. A., Weeraratna, T., Bruce, D. G., Davis, T. M. E., Vergès, B., Duvillard, L., Pont, F., Florentin, E., Gambert, Ph., Benko, B., Ljubić, S., Turk, Z., Granić, M., März, W., Wollschläger, H., Klein, G., Neiss, A., Wehling, M., Huxtable, S. J., Saker, P. J., Walker, M., Frayling, T. M., Levy, J. C., O’Rahilly, S., Hattersley, A. T., McCarthy, M. I., Orecchio, A., Giacchini, A., Dominici, R., Canettieri, G., Trinti, B., Zani, M., Andreoli, M., Sciacchitano, S., de Silva, A. M., Whitecross, K., Pasco, J., Kotowicz, M., Nicholson, G., Zimmet, P., Boyko, E. J., Collier, G. R., Frittitta, L., Pizzuti, A., Argiolas, A., Graci, S., Goldfine, I. D., Bozzali, M., Ercolino, T., Costanzo, B., Iacoviello, L., Tassi, V., Trischitta, V., Wauters, M., Rankinen, T., Mertens, I., Chagnon, M., Bouchard, C., Van Gaal, L., Sivenius, K., Valve, R., Hakkarainen, V., Niskanen, L., Laakso, M., Uusitupa, M., Beridze, N., Japaridze, M., Kurashvili, R., Dundua, M., Kebuladze, G., Kazakhashvili, N., Offley-Shore, B., Thomas, B., Ghebremeskel, K., Crawford, M., Lowy, C., Eriksson, Ulf J., Martin Simán, C., Wisse, Bert, Gittenberger-de Groot, Adriana C., Wentzel, P., Eriksson, U. J., Wender-Ożegowska, E., Drews, K., Biczysko, R., Bronisz, A., Rość, D., Graczykowska-Koczorowska, A., Kotschy, M., Sokup, A., Kohnert, K. D., Besch, W., Strese, J., Frick, U., Zander, E., Kemer, W., Škrha, J., Kvasnička, J., Kalvodová, B., Hilgertová, J., Schatteman, K., Goossens, F., Scharpé, S., De Leeuw, I., Hendriks, D., Legakis, I. N., Panayiotou, D., Mountokalakis, Th. D., Enderle, M. D., Beckmann, P., Balletshofer, B., Rittig, K., Maerker, E., Volk, A., Meisner, C., Jacob, S., Matthaei, S., Häring, H. U., Rett, K., Ueda, K., Nakagawa, T., Shimajiri, Y., Kokawa, M., Matsumoto, E., Sasaki, H., Sanke, T., Nanjo, K., McKinnon, Caroline M., Macfarlane, Wendy M., Docherty, Kevin, Furukawa, N., Shirotani, T., Kishikawa, H., Kaneko, K., Araki, E., Shichiri, M., Prentki, M., Roduit, R., Susini, S., Buteau, J., Ejrnæs, A. M., Andersen, N. Aa., Osterhoff, M., Möhlig, M., Ortmann, J., Bikashaghi, F., Mayer, C., Bikashagi, F., Ackermans, M. T., Pereira Arias, A. M., Bisschop, P. H. L. T., Endert, E., Sauerwein, H. P., Romijn, J. A., Gastaldelli, A., Baldi, S., Pettiti, M., Natali, A., Frascerra, S., Camastra, S., Toschi, E., Ferrannini, E., Stingl, H., Krssak, M., Bischof, M. G., Krebs, M., Fürnsinn, C., Nowotny, P., Waldhäusl, W., Roden, M., Neeft, M., Meijer, A. J., Båvenholm, P., Pigon, J., Efendic, S., Kästenbauer, T., Sauseng, S., Sokol, G., Auinger, M., Irsigler, K., Abbott, C. A., Carrington, A. L., Faragher, B., Kulkarni, J., Van Ross, E. R. E., Boulton, A. J. M., Armstrong, D. G., Hadi, S., Nguyen, H. C., Harkless, L. B., Jirkovská, A., Kasalicky, P., Hosová, J., Skibova, J., Uccioli, L., Caselli, A., Giacomozzi, C., Macellari, V., Giurato, L., Lardieri, L., Menzinger, G., Pham, H. T., Rosenblum, B. I., Lyons, T. E., Giurini, J. M., Smakowski, P., Chrzan, J. S., Habershaw, G. M., Veves, A., Foster, A. M., Bates, M., Doxford, M., Edmonds, M. E., Kecha, O., Winkler, R., Martens, H., Collette, J., Lefèbvre, P. J., Greiner, D., Geenen, V., Atlan-Gepner, C., Naspetti, M., Valéro, R., Barad, M., Lepault, F., Vialettes, B., Naquet, P., de Galan, B., Netea, M. G., Hancu, N., Smits, P., Van der Meer, J. W. M., Osterbye, T., Jørgensen, K. H., Tranum-Jensen, J., Fredman, P., Høy, M., Bokvist, K., Olsen, H. L., Horn, T., Gromada, J., Laub, R., Lohmann, T., Hahn, H. J., Adler, T., Emmrich, F., Rabuazzo, A. M., Lupi, R., Dotta, F., Patanè, G., Marselli, L., Realacci, M., Piro, S., Del Guerra, S., Santangelo, C., Navalesi, R., Purrello, F., Marchetti, P., de Vos, P., Visser, L., de Haan, B. J., Klok, P., van Schilfgaarde, R., Poppema, S., Juang, J.-H., Kuo, C.-H., Hsu, B. R.-S., Nacher, V., Pérez, M., Biarnés, M., Raurell, M., Soler, J., Montanya, E., Ritzel, R., Maubach, J., Büsing, M., Becker, T., Klempnauer, J., Hücking, K., Schmiegel, W. H., Nauck, M. A., Bouček, P., Saudek, F., Adamec, M., Kožitarová, R., Jedináková, T., Vlasáková, Z., Skibová, J., Bartoš, V., Maffi, P., Bertuzzi, F., Aldrighetti, L., Taglietti, M. V., Castelnuovo, A., Pozza, G., Di Carlo, V., Secchi, A., Renier, G., Mamputu, J.-C., Gillespie, J. S., McMaster, D., Mercer, C., Trimble, E. R., Lecomte, M., Véricel, E., Paget, C., Ruggiero, D., Lagarde, M., Wiernsperger, N., Pricci, F., Leto, G., Amadio, L., Cordone, S., Iacobini, C., Catalano, S., Violi, F., Rotella, C. M., Pugliese, G., Zicari, A., Gradini, R., Sale, P., Pala, L., Cresci, B., Giannini, S., Manuelli, C., Dahlfors, G., Arnqvist, H. J., Gonelle-Gispert, C., Halnan, P. A., Sadoul, K., Wolter, S., Lang, J., Niwa, T., Yu, W., Hidaka, H., Senda, T., Niki, I., Fukasawa, T., Renstrom, E., Barg, S., Seward, E., Rorsman, P., Rutter, G. A., Molinete, M., Lilla, V., Ravazzola, M., Halban, P. A., Efanov, A. M., Bertorello, A. M., Zaitsev, S. V., Zwiller, J., Berggren, P.-O., MŞengül, A., Salman, F., Sargrn, M., Özer, E., Karşidaǧ, K., Salman, S., Gedik, S., Satman, İ., Dinççaǧ, N., Yılmaz, M. T., Lloyd, A., Hopkinson, P. K., Testa, M. A., Blonde, L., Turner, R. R., Hayes, J., Simonson, D. C., van der Ven, N. C. W., Lubach, C. H. C., Snoek, F. J., Mollema, E. D., van der Ploeg, H. M., Danne, T., Hoey, H., McGee, H., Fitzgerald, H., Lernmark, B., Thernlund, G., Fredin, K., Hägglöf, B., Lugari, R., Dell’Anna, C., Ugolotti, D., Dei Cas, A., Barilli, A. L., Sard, L., Marani, B., Iotti, M., Zandomeneghi, R., Gnudi, A., Kjems, L. L., Volund, Aa., Toft-Nielsen, M., Damholt, M. B., Hilsted, L., Hughes, T. E., Krarup, T., Holst, J. J., Young, A., Gottlieb, A., Fineman, M., Kolterman, O., Cancelas, J., García-Martínez, J. A., Villanueva-Peñacarrillo, M. L., Valverde, I., Malaisse, W. J., Filipsson, K., Ahrén, B., Balkan, B., Kwasnik, L., Battle, B., Li, X., Egan, J. M., Clocquet, A. R., Elahi, D., Petrella, E., Pricket, K., Petersen, K. F., Sullivan, J. T., Amatruda, J. M., Livingston, J. N., Shulman, G. I., Freyse, E.-J., Knospe, S., Glund, K., Demuth, H.-U., Walker, D., Malik, R. A., Reljanovic, M., Barada, A., Milicevic, Z., Tack, Cees J., Goldstein, David S., Van Huysen, C., Stevens, M. 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L., Srivatsa, A., Anderson, S. G., Cruikshank, J. K., Florkowski, C. M., Scott, R. S., Graham, P. J., Moir, C. L., Flores, C., Ruggenenti, P., Dodesini, A. R., Vasile, B., Gaspari, F., Arnoldi, F., Ferrari, S., Ciocca, I., Spalluzzi, A., Remuzzi, G., Delvigne, C., Ballaux, D., Bosman, D. R., Winkler, A. S., Marsden, J., Watkins, P. J., Strutton, D., Erbey, J. R., Jacobsen, P., Rossing, K., Jensen, J. S., Mansfield, M. W., Kowalska, I., Telejko, B., Bachórzewska-Gajewska, A., Prokop, J., Kochman, W., Musiał, W., Naskręt, D., Oleksa, R., Zozulińska, D., Sowiński, J., Wierusz-Wysocka, B., Klamann, A., Jonas, M., Müller-Lung, U., Heuser, L., Launhardt, V., Valensi, P., Pariès, J., Torremocha, F., Brulport, V., Sachs, R. N., Vanzetto, G., Levy, M., Lormeau, B., Halimi, S., Perfornis, A., Boumal, D., Zimmermann, C., Bernard, Y., Sabbah, A., Meneveau, N., Gautier, S., Bassand, J. P., Anděl, M., Kraml, P., Potočková, J., Dvořáková, H., Trešlová, L., Nuttall, S. L., Martin, U., Kendall, M. J., Schiaffini, R., Pantaleo, A., Battocletti, T., Vaccari, V., Brufani, C., Martuscelli, E., Gargiulo, P., Nieszner, E., Posa, I., Kocsis, E., Préda, I., Pogatsa, G., Koltai, M. Z. S., Stefanidis, A., Manoussakis, S., Handanis, S., Zairis, M., Vitalis, D., Dadiotis, L., Fiorina, P., La Rocca, E., Astorri, E., Rossetti, C., Lucignani, G., Giudici, D., Castoldi, R., Mazarakis, N., Giagiakou, E., Karavidas, A., Agellou, A., Karamani, O., Matsakas, E., Caviezel, F., Morricone, L., Ranucci, M., Denti, S., Cazzaniga, A., Enrini, R., Isgrò, G., González de Molina, F. J., Sala, J., Masià, R., Marrugat, J., Kruszewski, P., Wolnik, B., Bieniaszewski, L., Świerblewska, E., Semetkowska-Jurkiewicz, E., Krupa-Wojciechowska, B., Vasilikos, P. G., Alaveras, A. E. G., Anastasopoulos, N. G., Chala, E., Sidira, M., Christakopoulos, P. D., Poulsen, P. L., Hansen, K. W., Ebbehøj, E., Knudsen, S. T., Mogensen, C. E., Ramu, Y., Vidyullatha, Y., Strojek, K., Gorska, J., Morawin, E., Ritz, E., Ciavarella, A., Malini, P. L., Strocchi, E., Fiumi, N., Ambrosioni, E., Idzior-Waluś, B., Stevens, L., McEneny, J., O’Kane, M. J., Moles, K. W., McMaster, C., Young, I. S., Leonhardt, W., Konstadelou, E., Gürlek, Alper, Soedamah-Muthu, S., Taskinen, M. R., Ehnholm, C., Wägner, A., Bayen, Laia, Rigla, M., Ortega, E., Caixàs, A., Mestrón, A., Ordóñez, J., Pérez, A., Sotiropoulou, G., Servais, P. L., Bertolotto, A., Pilo, M., Suchánková, G., Andratschke, S., Tschöp, M., Strasburger, C.-J., Rizzo, L., Aerts, P., Vinckx, M., Ansquer, J. C., Ryan, M., Buter, H., Navis, G. J., de Jong, P. E., de Zeeuw, D., Carreras, G., Giménez, G., Pou, J. M., Howorka, K., Gabriel, M., Pumprla, J., Köves, A., Bhowmik, N. B., Haque, A., Rahman, A., Paleari, F., Gamba, P., Mauri, G., Rovaris, G., Giannattasio, C., Piatti, M. L., Zincone, A., Cavaletti, G., Mancia, G., Lan, S., Arezzo, J., Gerber, R. A., Klioze, S. S., Saponara, C., Tartaglione, T., Cercone, S., Caputo, S., Meloni, T., Brunetti, D., Di Lazzaro, V., Xu, G., Jiang, H. Y., Shy, M. E., Sugimoto, K., Zhang, W.-X., Kuchmerovskaya, T., Donchenko, G., Shymansky, I., Kuchmerovsky, N., Pakyrbaeva, L., Cameron, N. E., Keegan, A., Cotter, M. A., Mirrlees, D., Smale, S. E., Biessels, G. J., Duis, S. E. J., Kamal, A., Gispen, W. H., Carrington, A., Carman, S., Smiarowski, H., Lavoie, D., Sawicki, D., Sabetta, A., Litchfield, J., Van Zandt, M., Sredy, J., Smirnova, V., Strokov, I., Ivanova, L., Ichunina, A., Nakamura, J., Nakayama, M., Hamada, Y., Chaya, S., Kato, K., Kasuya, Y., Mizubayashi, R., Miwa, K., Yasuda, Y., Kamiya, H., Hotta, N., Bíró, K., Kukorelli, T., Szilágyi, N., Kürthy, M., Komáromy, A., Mogyorosi, T., Nagy, K., Çakir, M., Baskal, N., Güllü, S., Elhan, A. H., Erdogan, G., Ziegler, D., Piolot, R., Neubauer, J., Senesi, B., Bonetti, R., Napolitano, A., Canepa, F., Ottonello, P., Schabmann, A., Giménez-Pérez, G., Arroyo, J. A., López, T., Ponz, E., Mauricio, D., Diem, P., Zanchin, L., Suter, S. L., Lefrandt, J. D., Smit, A., van Roon, A. M., Dullaart, R., Voita, D., Mackevics, V., Vitols, A., Lengyel, Cs., Farkas, Gy., Török, T., Légrády, P., Várkonyi, T. T., Kardos, A., Gingl, Z., Kempler, P., Rudas, L., Lonovics, J., Marchand, M., Stevens, L. K., Tarnás, Gy., Estrella, F., Christensen, N. J., Keresztes, K., Barna, I., Hermányi, Zs., Vargha, P., Bonnevie, L., Chanudet, X., Larroque, P., Tutuncu, N. Bascil, Deger, A., Batur, M. K., Yildirir, A., Onalan, O., Aksöyek, S., Kabakçι, G., Erbaş, T., Galicka-Latała, D., Surdacki, A., Gerritsen, J., TenVoorde, B. J., Heethaar, R. M., Tagawa, T. S., Kodama, M., Yoshioka, R., Yamasaki, Y., Didangelos, T., Athyros, V., Kontopoulos, A., Papageorgiou, A., Karamitsos, D., Lacigová, S., Rušavý, Z., Kárová, R., Perrild, H., Kay, L., Jørgensen, T., Bień, A. I., Witek, P., Geraldes, Elizabete, Rodrigues, D., Pereira, L., Doménech, A., Leitão, P., Anagnostopoulos, D., Foster, A. V. M., Nag, S., Barsoum, M., Lewis, G., Dunlop, N., Connolly, V., Bilous, R., Kelly, W., Chantelau, E., Gede, A., Sharman, D., O’Halloran, D., Best, C., Abbas, Z. G., Lutale, J., Gill, G. V., Jarvis, W. R., Archibald, L. K., Corcoran, S., Mansell, J., Pibworth, L., Terada, H., Shiba, T., Utugi, N., Utugi, T., Blum, M., Strobel, J., Höffken, K., Razvi, F. M., Kritzinger, E. E., Taylor, K., Jones, S., Illahi, W., Grüβer, M., Hartmann, P., Hoffstadt, K., van Leiden, H. A., Moll, A. C., Polak, B. C. P., Pietragalla, G. B., Maurino, M., Montanaro, M., Karadeniz, Ş., Tommasini, P., Quadrini, C., Demiraj, V., Rispoli, E., Ota, A., Takama, H., Saito, N., Hemández, C., Lepore, D., Antico, L., Giardina, B., Franconi, F., Michoud, E., Chamot, S., Riva, Ch., Hammes, H.-P., Renner, O., Breier, G., Lin, J., Alt, A., Betzholtz, C., Bretzel, R. G., Manti, R., Gallo, M., Molinar Hin, A., Brignardello, E., Boccuzzi, G., Li, Shanfang, Xiang, Kunsan, Zhang, Rugeng, Shangguan, Xinhong, Wu, Jianrong, Donnan, P. T., Broomhall, J., Hunter, K., Morris, A. D., Ioannidis, G., Peppa, M., Rontogianni, E., Kallifronas, M., Lekatsas, I., Chrysanthopoulou, G., Anthopoulos, L., Kesse, M., Thalassinos, N., Neves, C., Medina, J. L., Lopes, F., Yılmaz, M., Güvener, N., Güvener, M., Kocagöz, T., Böke, E., Paşaoglu, I., Bascil Tutuncu, N., Oto, A., Karvonen, M. K., Koulu, M., Pesonen, U., Mercuri, M., Rauramaa, R., Rutter, M. K., Kestevan, P., McComb, J. M., Marshall, S. M., Sobieska, M., Wiktorowicz, K., Kanters, S. D. J. M., Banga, J. D., Algra, A., Frijns, C. J. M., Beutler, J. J., Fijnheer, R., Nicoloff, G., Baydanoff, S., Stanimirova, N., Petrova, Ch., Lario, S., Campistol, J. M., Cases, A., Clària, J., Iñigo, P., Esmatjcs, E., Sármán, B., Tóth, M., Kocsis, I., Somogyi, A., Bumbure, A., Jachimowicz, K., Samson, J., Tomasiak, M., Sobol, A., Stańczyk, L., Watala, C., Stradina, P., Wiśniewska-Jarosińska, M., Marciniak, D., Więcławska, B., Watała, C., Golański, J., Zinnat, R., Mahmud, I., Büyükasik, Yahya, Demiroğlu, H., Szczepanik, A., Skowroński, M., Murawska, A., Meeking, D. R., Allard, S., Munday, J., Chowienczyk, P., Shaw, K. M., Cummings, M. H., Šimková, R., Jirsa, M., Hadoke, P. W. F., McIntyre, C. A., Jones, G. C., Williams, B. C., Elliott, A. I., McKnight, J. A., Pernow, J., Bombonato, G. C., Finucci, G. F., Zotta, L., Senses, V., Ozyazgan, S., Ince, E., Tunçdemir, M., Oztürk, M., Sultuybek, G., Akkan, A. G., Özyazgan, S., Unlücerci, Y., Bekpınar, S., Meyer, M. F., Lee, B. C., Shore, A. C., Humphreys, J. M., Tooke, J. E., Dell’Omo, G., Giovannitti, G., Caricato, F., Mariani, M., Pedrinelli, R., Kiviet-Boehm, C., Schwelling, V., Matthäei, S., Pfohl, M., McInerney, D., Itoh, H., Ohno, T., Katoh, N., Baumgartner-Parzer, S., Artwohl, M., Graier, W., Ludwig, C., Tachi, Y., Bannai, C., Shinohara, M., Shimpuku, H., Ohura, K., Bertacca, A., Sasvári, M., Szaleczki, E., Pusztai, P., Boes, U., Klaus, E., Dittrich, P., Wagner, Z., Wittmann, I., Pótó, L., Wagner, L., Mazák, I., Nagy, J., Feletto, F., Taboga, C., Tonutti, L., Lizzio, S., Russo, A., Selmo, V., Ceriello, A., Lekakis, J., Papamichael, C. M., Stamatelopoulos, K., Stamatelopoulos, S., Yillar, D. O., Gay, M., Lillaz, E., Passaro, A., Vanini, A., Calzoni, F., D’Elia, K., Carantoni, M., Zuliani, G., Fellin, R., Solini, A., Chwatko, G., Bald, E., Dramais, A.-S., Wallemacq, P. E., Vandeleene, B., Ciaria, M. V., Ariano, M., Strom, R., Gibney, J., Weiss, U., Turner, B., O’Gorman, P., Watts, G., Powrie, J., Crook, M., Shaw, K., and Cummings, M.
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- 1999
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19. Molecular Characterization of β-Thalassemia Intermedia in Patients of Italian Descent and Identification of Three Novel β-Thalassemia Mutations
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Murru, S., Loudianos, G., Deiana, M., Camaschella, C., Sciarratta, G.V., Agosti, S., Parodi, M.I., Cerruti, P., Cao, A., and Pirastu, M.
- Abstract
In this study, we have defined by dot-blot analysis with allelic specific oligonucleotide probes or direct sequencing on amplified DNA the β-thalassemia mutations in a large group of patients (23) of Italian descent with thalassemia intermedia. These patients had one parent with either the silent β-thalassemia carrier phenotype or borderline-normal hemoglobin A2(HbA2) levels (2.5% to 3.5%). Nearly all were genetic compounds for a severe β-thalassemia mutation and a β-thalassemia mutation associated with high residual output of β-globin chains (β+ intervening sequence [IVS]-I-nt6, β-87, β-101), indicating that inheritance of a mild β-thalassemia allele, even in a single dose, is the most common molecular mechanism producing thalassemia intermedia in the Italian population. In three cases, in whom we failed to define by dot-blot analysis the mutations, we sequenced the β+globin gene and found three novel β-thalassemia mutations, which are certainly very rare because they have been hitherto detected solely in a single patient. These mutations consist of: (1) a T-A substitution at position 2 of IVS-I, in a patient compound heterozygote for this mutation and the –87 promoter mutation; (2) a G-C substitution at position 844 of IVS-II, in a patient heterozygous for this mutation who showed normal sequences at the in trans β-globin gene (The reason for the presence of clinical manifestations in a β-thalassemia heterozygote has not been defined.); and (3) a deletion of one nucleotide (–T) at codon 126, resulting in a frameshift and readthrough of the 5' untranslated region and most likely producing an elongated Hb molecule of 156 amino acid residues, in a patient heterozygous for this mutation with normal β-globin gene sequences at the other locus.
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- 1991
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20. δ-Thalassemia due to a Mutation in an Erythroid-Specific Binding Protein Sequence 3’ to the δ-Globin Gene
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Moi, P., Loudianos, G., Lavinha, J., Murru, S., Cossu, P., Casu, R., Oggiano, L., Longinotti, M., Cao, A., and Pirastu, M.
- Abstract
We have previously described a family of Northern Sardinian descent in which the propositus was affected by thalassemia major resulting from compound heterozygosity for codon 39 nonsense mutation and the β+IVS II nt 745 mutation and in which all heterozygotes for the β+IVS II nt 745 mutation had normal hemoglobin (Hb) A2levels. To define the reasons for normal HbA2levels in otherwise typical β-thalassemia het-erozygotes, we cloned and sequenced the δ-thalassemia gene in cis to the β+IVS II nt 745 mutation. The sequence analysis showed a single nucleotide substitution (G → A) at position 69 nts (δ+69) downstream to the polyA addition site. Dot blot analysis with an oligonucleotide probe complementary to the δ+69 mutation detected this mutation in several heterozygotes for the β+IVS II nt 745 mutation from the proband's family, but failed to show it either in a group of normal individuals of the same origin or in nonrelated heterozygotes for the β+IVS II nt 745 mutation of the same or different descent from the proband. The δ+69 (G → A) mutation may be responsible for the low δ-globin output from the β+IVS II nt 745 chromosome or could be a silent polymorphism not affecting the function of the δ-globin gene. The normal G at position 69 is part of a sequence very similar to the core DNA (A/T)GATA(A/G) motif (GATA box) that is a binding site for the GATA-1 protein. Gel-retardation assay has shown that a DNA fragment containing the GATA motif with the G → A at position +69 has increased binding affinity for erythroid-specific DNA binding protein(s) as compared with the wild-type sequence. These findings may suggest that the δ+69 mutation is responsible for the deficient function of the in cis δ-globin gene.
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- 1992
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21. SEVERE OUTBREAKS OF MELON COLLAPSE IN ITALY AND INTEGRATED CONTROL STRATEGIES.
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Chilosi, G., Reda, R., Aleandri, M. P., Balmas, V., Murru, S., Siddu, G., Lazzeri, L., Galletti, S., and Infantino, A.
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MELON disease & pest resistance ,PHYTOPATHOGENIC fungi ,FUNGAL diseases of plants ,MELON growing ,ROOTSTOCKS ,ACREMONIUM - Abstract
Melon is an important horticultural crop in Italy, grown on surface of ca. 24,000 ha with a total production of 53,000 tons. Collapse, one of most destructive diseases of this crop in Italy, especially in Latium and Sardinia, is a disease with a complex aetiology, to which many fungal pathogens are associated, including Monosporascus cannonballus, Acremonium cucurbitacearum, Plectosporium tabacinum and Rhizopycnis vagum. In this study, the occurrence of collapse in different Italian melon-growing areas was investigated, monitoring the incidence of the main causal agents associated with the disease. M. cannonballus appeared as the prominent species on symptomatic plants in Latium. In Sardinia, M. cannonballus was mostly isolated from melon grown in sandy soils, whereas A. cucurbitacearum was mostly found in heavy clayey soils. In both regions, R. vagum, Macrophomina phaseolina and Fusarium solani were isolated to some extent. Control strategies for the control of collapse of melon are scarce. Soil fumigation is expensive and has a negative environmental impact. No resistant varieties are available, while the use of resistant rootstock is limited by the lower fruit quality of grafted plants. The effectiveness of sustainable control measures was verified in greenhouse in Latium. Early sanitation, use of mycorrhizal inoculum (Glomus intraradices) and of mixed composted amendments proved to decrease significantly disease severity. The evaluation of other control strategies (Trichoderma spp., the use of Brassica green manure and pellets) for the control of the disease is in progress. [ABSTRACT FROM AUTHOR]
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- 2012
22. A β-THALASSEMIA CARRIER WITH NORMAL SEQUENCE WITHIN THE β-GLOBIN GENE
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MURRU, S., LOUDIANOS, G., CAO, A., VACCARGIU, S., PIRASTU, M., SCIARRATTA, G.V., AGOSTI, S., and PARODI, M.I.
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- 1990
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23. A PROMOTER MUTATION OF THE β-GLOBIN GENE (–101 C → T) HAS AN AGE-RELATED EXPRESSION PATTERN
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MURRU, S., PISCHEDDA, M.C., CAO, A., ROSATELLI, M.C., PIRASTU, M., SCIARRATTA, G.V., MANCA, L., GALLISAI, D., and TOFFOLI, C.
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- 1993
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24. Non-Small Cell Lung Cancer Testing on Reference Specimens: An Italian Multicenter Experience.
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Pepe F, Russo G, Venuta A, Scimone C, Nacchio M, Pisapia P, Goteri G, Barbisan F, Chiappetta C, Pernazza A, Campagna D, Giordano M, Perrone G, Sabarese G, Altimari A, de Biase D, Tallini G, Calistri D, Chiadini E, Capelli L, Santinelli A, Gulini AE, Pierpaoli E, Badiali M, Murru S, Murgia R, Guerini Rocco E, Venetis K, Fusco N, Morotti D, Gianatti A, Furlan D, Rossi G, Melocchi L, Russo M, De Luca C, Palumbo L, Simonelli S, Maffè A, Francia di Celle P, Venesio T, Scatolini M, Grosso E, Orecchia S, Fassan M, Balistreri M, Zulato E, Reghellin D, Lazzari E, Santacatterina M, Piredda ML, Riccardi M, Laurino L, Roz E, Longo D, Romeo DP, Fazzari C, Moreno-Manuel A, Puglia GD, Prjibelski AD, Shafranskaya D, Righi L, Listì A, Vitale D, Iaccarino A, Malapelle U, and Troncone G
- Abstract
Introduction: Biomarker testing is mandatory for the clinical management of patients with advanced non-small cell lung cancer (NSCLC). Myriads of technical platforms are now available for biomarker analysis with differences in terms of multiplexing capability, analytical sensitivity, and turnaround time (TAT). We evaluated the technical performance of the diagnostic workflows of 24 representative Italian institutions performing molecular tests on a series of artificial reference specimens built to mimic routine diagnostic samples., Methods: Sample sets of eight slides from cell blocks of artificial reference specimens harboring exon 19 EGFR (epidermal growth factor receptor) p.E746_AT50del, exon 2 KRAS (Kirsten rat sarcoma viral oncogene homologue) p.G12C, ROS1 (c-ros oncogene 1)-unknown gene fusion, and MET (MET proto-oncogene, receptor tyrosine kinase) Δ exon 14 skipping were distributed to each participating institution. Two independent cell block specimens were validated by the University of Naples Federico II before shipment. Methodological and molecular data from reference specimens were annotated., Results: Overall, a median DNA concentration of 3.3 ng/µL (range 0.1-10.0 ng/µL) and 13.4 ng/µL (range 2.0-45.8 ng/µL) were obtained with automated and manual technical procedures, respectively. RNA concentrations of 5.7 ng/µL (range 0.2-11.9 ng/µL) and 9.3 ng/µL (range 0.5-18.0 ng/µL) were also detected. KRAS exon 2 p.G12C, EGFR exon 19 p.E736_A750del hotspot mutations, and ROS1 aberrant transcripts were identified in all tested cases, whereas 15 out of 16 (93.7%) centers detected MET exon 14 skipping mutation., Conclusions: Optimized technical workflows are crucial in the decision-making strategy of patients with NSCLC. Artificial reference specimens enable optimization of diagnostic workflows for predictive molecular analysis in routine clinical practice., (© 2024. The Author(s).)
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- 2024
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25. Synthesis, in silico modelling, and in vitro biological evaluation of substituted pyrazole derivatives as potential anti-skin cancer, anti-tyrosinase, and antioxidant agents.
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Boateng ST, Roy T, Torrey K, Owunna U, Banang-Mbeumi S, Basnet D, Niedda E, Alexander AD, Hage DE, Atchimnaidu S, Nagalo BM, Aryal D, Findley A, Seeram NP, Efimova T, Sechi M, Hill RA, Ma H, Chamcheu JC, and Murru S
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- Humans, Antioxidants pharmacology, Molecular Structure, Enzyme Inhibitors chemistry, Molecular Docking Simulation, Computer Simulation, Azoles, Pyrazoles, Monophenol Monooxygenase, Skin Neoplasms drug therapy
- Abstract
Twenty-five azole compounds ( P1 - P25 ) were synthesised using regioselective base-metal catalysed and microwave-assisted approaches, fully characterised by high-resolution mass spectrometry (HRMS), nuclear magnetic resonance (NMR), and infrared spectra (IR) analyses, and evaluated for anticancer, anti-tyrosinase, and anti-oxidant activities in silico and in vitro . P25 exhibited potent anticancer activity against cells of four skin cancer (SC) lines, with selectivity for melanoma (A375, SK-Mel-28) or non-melanoma (A431, SCC-12) SC cells over non-cancerous HaCaT-keratinocytes. Clonogenic, scratch-wound, and immunoblotting assay data were consistent with anti-proliferative results, expression profiling therewith implicating intrinsic and extrinsic apoptosis activation. In a mushroom tyrosinase inhibition assay, P14 was most potent among the compounds (half-maximal inhibitory concentration where 50% of cells are dead, IC
50 15.9 μM), with activity greater than arbutin and kojic acid. Also, P6 exhibited noteworthy free radical-scavenging activity. Furthermore, in silico docking and absorption, distribution, metabolism, excretion, and toxicity (ADMET) simulations predicted prominent-phenotypic actives to engage diverse cancer/hyperpigmentation-related targets with relatively high affinities. Altogether, promising early-stage hits were identified - some with multiple activities - warranting further hit-to-lead optimisation chemistry with further biological evaluations, towards identifying new skin-cancer and skin-pigmentation renormalising agents.- Published
- 2023
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26. CDX-2 expression correlates with clinical outcomes in MSI-H metastatic colorectal cancer patients receiving immune checkpoint inhibitors.
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Ziranu P, Pretta A, Pozzari M, Maccioni A, Badiali M, Fanni D, Lai E, Donisi C, Persano M, Gerosa C, Puzzoni M, Bardanzellu F, Ambu R, Pusceddu V, Dubois M, Cerrone G, Migliari M, Murgia S, Spanu D, Pretta G, Aimola V, Balconi F, Murru S, Faa G, and Scartozzi M
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- Humans, DNA Mismatch Repair, Microsatellite Instability, Prognosis, Retrospective Studies, Colonic Neoplasms drug therapy, Colonic Neoplasms genetics, Colorectal Neoplasms drug therapy, Colorectal Neoplasms genetics, Immune Checkpoint Inhibitors therapeutic use, CDX2 Transcription Factor genetics, CDX2 Transcription Factor metabolism
- Abstract
Immune checkpoint inhibitors (ICIs) showed efficacy in metastatic colorectal cancer (mCRC) with mismatch-repair deficiency or high microsatellite instability (dMMR-MSI-H). Unfortunately, a patient's subgroup did not benefit from immunotherapy. Caudal-related homeobox transcription factor 2 (CDX-2) would seem to influence immunotherapy's sensitivity, promoting the chemokine (C-X-C motif) ligand 14 (CXCL14) expression. Therefore, we investigated CDX-2 role as a prognostic-predictive marker in patients with mCRC MSI-H. We retrospectively collected data from 14 MSI-H mCRC patients treated with ICIs between 2019 and 2021. The primary endpoint was the 12-month progression-free-survival (PFS) rate. The secondary endpoints were overall survival (OS), PFS, objective response rate (ORR), and disease control rate (DCR). The PFS rate at 12 months was 81% in CDX-2 positive patients vs 0% in CDX-2 negative patients (p = 0.0011). The median PFS was not reached (NR) in the CDX-2 positive group versus 2.07 months (95%CI 2.07-10.8) in CDX-2 negative patients (p = 0.0011). Median OS was NR in CDX-2-positive patients versus 2.17 months (95% Confidence Interval [CI] 2.17-18.7) in CDX2-negative patients (p = 0.026). All CDX-2-positive patients achieved a disease response, one of them a complete response. Among CDX-2-negative patients, one achieved stable disease, while the other progressed rapidly (ORR: 100% vs 0%, p = 0.0005; DCR: 100% vs 50%, p = 0.02). Twelve patients received 1st-line pembrolizumab (11 CDX-2 positive and 1 CDX-2 negative) not reaching median PFS, while two patients (1 CDX-2 positive and 1 CDX-2 negative) received 3rd-line pembrolizumab reaching a median PFS of 10.8 months (95% CI, 10.8-12.1; p = 0.036). Although our study reports results on a small population, the prognostic role of CDX-2 in CRC seems confirmed and could drive a promising predictive role in defining the population more sensitive to immunotherapy treatment. Modulating the CDX-2/CXCL14 axis in CDX-2-negative patients could help overcome primary resistance to immunotherapy., (© 2023. The Author(s).)
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- 2023
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27. Identification of new fisetin analogs as kinase inhibitors: Data on synthesis and anti-skin cancer activities evaluation.
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Roy T, Boateng ST, Banang-Mbeumi S, Singh PK, Basnet P, Chamcheu RN, Ladu F, Chauvin I, Spiegelman VS, Hill RA, Kousoulas KG, Nagalo BM, Walker AL, Fotie J, Murru S, Sechi M, and Chamcheu JC
- Abstract
This article contains supplemental datasets of the recently published related research article "Synthesis, Inverse Docking-Assisted Identification and in vitro Biological Characterization of Flavonol-based Analogs of Fisetin as c-Kit, CDK2 and mTOR Inhibitors against Melanoma and Non-melanoma Skin Cancers" by Roy et al., [1]. It provides in-depth data not included in the original co-submission on the biophysical, molecular docking, and biological characterization of newly synthesized flavonol-based analogs of fisetin, a natural dietary small molecule with anticancer and anti-inflammatory properties. These synthetic small molecules were investigated as new, potential single and/or multi-kinase inhibitors of the cyclin-dependent kinase-2 (CDK2), receptor tyrosine kinases (c-KITs), and mammalian targets of rapamycin (mTOR) targets, potentially active against melanoma or non-melanoma skin cancers. Furthermore, this data-in-brief article comprises additional sets of results on several aspects of the properties of the dual and multiple kinase inhibitor compounds' effects that were not presented in the associated article, including the activated targets that are dysregulated in skin cancers; the effects on markers of apoptosis; on colony formation; and in scratch wound healing assays. The study has identified a panel of novel fisetin analogs that are either single- or multi-kinase inhibitors, which may be further developed as active for the treatment of melanoma and non-melanoma skin cancers. The dataset presented herein will be utilized for additional studies aiming to establish a biological platform to steer for predictive and experimental screening of novel flavonoids and analogs in relevant organoids, humanized animal models and in vivo disease models. The present results should also serve as a key stepping-stone towards enabling target-structure-based design, synthesis and initial testing of novel analogs or derivatives of fisetin. The current study may eventually lead to the development of safe, promising and preclinical candidate entities for treatment of skin and other forms of cancers as well as various other human diseases, which can possibly add to the general armamentarium of promising and safe drugs for health promotion., Competing Interests: The authors declare that they have no known competing financial interests or personal relationships which have or could be perceived to have influenced the work reported in this article.
- Published
- 2021
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28. Synthesis, inverse docking-assisted identification and in vitro biological characterization of Flavonol-based analogs of fisetin as c-Kit, CDK2 and mTOR inhibitors against melanoma and non-melanoma skin cancers.
- Author
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Roy T, Boateng ST, Banang-Mbeumi S, Singh PK, Basnet P, Chamcheu RN, Ladu F, Chauvin I, Spiegelman VS, Hill RA, Kousoulas KG, Nagalo BM, Walker AL, Fotie J, Murru S, Sechi M, and Chamcheu JC
- Subjects
- Antineoplastic Agents chemical synthesis, Antineoplastic Agents chemistry, Apoptosis drug effects, Cell Proliferation drug effects, Cell Survival drug effects, Cyclin-Dependent Kinase 2 antagonists & inhibitors, Cyclin-Dependent Kinase 2 metabolism, Dose-Response Relationship, Drug, Drug Screening Assays, Antitumor, Flavonols chemical synthesis, Flavonols chemistry, Humans, Melanoma metabolism, Melanoma pathology, Molecular Structure, Proto-Oncogene Proteins c-kit antagonists & inhibitors, Proto-Oncogene Proteins c-kit metabolism, Skin Neoplasms metabolism, Skin Neoplasms pathology, Structure-Activity Relationship, TOR Serine-Threonine Kinases antagonists & inhibitors, TOR Serine-Threonine Kinases metabolism, Tumor Cells, Cultured, Antineoplastic Agents pharmacology, Flavonols pharmacology, Melanoma drug therapy, Molecular Docking Simulation, Skin Neoplasms drug therapy
- Abstract
Due to hurdles, including resistance, adverse effects, and poor bioavailability, among others linked with existing therapies, there is an urgent unmet need to devise new, safe, and more effective treatment modalities for skin cancers. Herein, a series of flavonol-based derivatives of fisetin, a plant-based flavonoid identified as an anti-tumorigenic agent targeting the mammalian targets of rapamycin (mTOR)-regulated pathways, were synthesized and fully characterized. New potential inhibitors of receptor tyrosine kinases (c-KITs), cyclin-dependent kinase-2 (CDK2), and mTOR, representing attractive therapeutic targets for melanoma and non-melanoma skin cancers (NMSCs) treatment, were identified using inverse-docking, in vitro kinase activity and various cell-based anticancer screening assays. Eleven compounds exhibited significant inhibitory activities greater than the parent molecule against four human skin cancer cell lines, including melanoma (A375 and SK-Mel-28) and NMSCs (A431 and UWBCC1), with IC
50 values ranging from 0.12 to < 15 μM. Seven compounds were identified as potentially potent single, dual or multi-kinase c-KITs, CDK2, and mTOR kinase inhibitors after inverse-docking and screening against twelve known cancer targets, followed by kinase activity profiling. Moreover, the potent compound F20, and the multi-kinase F9 and F17 targeted compounds, markedly decreased scratch wound closure, colony formation, and heightened expression levels of key cancer-promoting pathway molecular targets c-Kit, CDK2, and mTOR. In addition, these compounds downregulated Bcl-2 levels and upregulated Bax and cleaved caspase-3/7/8 and PARP levels, thus inducing apoptosis of A375 and A431 cells in a dose-dependent manner. Overall, compounds F20, F9 and F17, were identified as promising c-Kit, CDK2 and mTOR inhibitors, worthy of further investigation as therapeutics, or as adjuvants to standard therapies for the control of melanoma and NMSCs., (Published by Elsevier Inc.)- Published
- 2021
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29. Assessment of relationship between rainfall and Escherichia coli in clams ( Chamelea gallina ) using the Bayes Factor.
- Author
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Ciccarelli C, Semeraro AM, Leinoudi M, Trani VD, Murru S, Capocasa P, Ciccarelli E, and Sacchini L
- Abstract
Consumption of bivalve shellfish harvested from water contaminated with sewage pollution presents a risk of human infections and targeting control measures require a good understanding of environmental factors influencing the transport and the fate of faecal contaminants within the hydrological catchments. Although there has been extensive development of regression models, the point of this paper, focused on the relationship between rainfall events and concentrations of Escherichia coli monitored in clams, was the use of a Bayesian approach, by the Bayes Factor. The study was conducted on clams harvested from the south coast of Marche Region (Italy), a coastal area impacted by continuous treated effluents, intermittent rainfalldependent untreated sewage spillage - as a consequence of stormwater overflowing - and rivers with an ephemeral flow regime. The work compared the different interpretation criteria of Bayes Factor, confirmed that E. coli concentrations in clams from the studied area varied in correlation with rainfall events, and demonstrated the effectiveness of Bayes Factor in the assessment of shellfish quality in coastal marine waters. However, it suggested that further investigations would be warranted to determine which environmental factors provide the better basis for accurate and timely predictions. Furthermore the gathered data could be useful, to the local authorities of Marche Region, in the definition of flexible monitoring programmes, taking into account the atmospheric events that could affect the correct functioning of sewage managing systems and the flow of tributary rivers.
- Published
- 2017
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30. The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying.
- Author
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Wang S, Jacquemyn J, Murru S, Martinelli P, Barth E, Langer T, Niessen CM, and Rugarli EI
- Subjects
- ATP-Dependent Proteases biosynthesis, ATPases Associated with Diverse Cellular Activities, Animals, Cell Death genetics, Cell Survival genetics, Hair growth & development, Humans, Metalloendopeptidases biosynthesis, Mice, Mitochondria metabolism, Mitochondria pathology, Mutation, Myelin Sheath metabolism, Neuroglia metabolism, Neurons metabolism, Oligodendroglia metabolism, Schwann Cells metabolism, ATP-Dependent Proteases genetics, Demyelinating Diseases genetics, Hair metabolism, Metalloendopeptidases genetics, Mitochondria genetics
- Abstract
The m-AAA protease preserves proteostasis of the inner mitochondrial membrane. It ensures a functional respiratory chain, by controlling the turnover of respiratory complex subunits and allowing mitochondrial translation, but other functions in mitochondria are conceivable. Mutations in genes encoding subunits of the m-AAA protease have been linked to various neurodegenerative diseases in humans, such as hereditary spastic paraplegia and spinocerebellar ataxia. While essential functions of the m-AAA protease for neuronal survival have been established, its role in adult glial cells remains enigmatic. Here, we show that deletion of the highly expressed subunit AFG3L2 in mature mouse oligodendrocytes provokes early-on mitochondrial fragmentation and swelling, as previously shown in neurons, but causes only late-onset motor defects and myelin abnormalities. In contrast, total ablation of the m-AAA protease, by deleting both Afg3l2 and its paralogue Afg3l1, triggers progressive motor dysfunction and demyelination, owing to rapid oligodendrocyte cell death. Surprisingly, the mice showed premature hair greying, caused by progressive loss of melanoblasts that share a common developmental origin with Schwann cells and are targeted in our experiments. Thus, while both neurons and glial cells are dependant on the m-AAA protease for survival in vivo, complete ablation of the complex is necessary to trigger death of oligodendrocytes, hinting to cell-autonomous thresholds of vulnerability to m-AAA protease deficiency., Competing Interests: The authors have declared that no competing interests exist.
- Published
- 2016
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31. Direct synthesis of β-alkyl N-aryl aza Baylis-Hillman adducts via nitroso-ene reaction.
- Author
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Murru S, Gallo AA, and Srivastava RS
- Subjects
- Aldehydes chemistry, Catalysis, Esters, Hydroxylamines chemistry, Ketones chemistry, Molecular Structure, Nitriles chemistry, Stereoisomerism, Allyl Compounds chemistry, Aza Compounds chemical synthesis, Iron chemistry
- Abstract
A new approach for the direct Fe-catalyzed synthesis of β-alkyl N-aryl aza Baylis-Hillman (ABH) adducts is reported. This approach involves the formation of a C-N bond via a nitroso-ene reaction. This is a simple, fast, and best alternate method to overcome the substrate scope limitations of the ABH reaction, which converts allyl esters and carbonyl compounds to novel ABH adducts. A variety of arylhydroxylamines reacted with esters, aldehydes, ketone, and nitriles to yield the corresponding products in moderate to excellent yields.
- Published
- 2012
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32. Copper(I)-catalyzed synthesis of substituted 2-mercapto benzimidazoles.
- Author
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Murru S, Patel BK, Le Bras J, and Muzart J
- Subjects
- Benzimidazoles chemistry, Catalysis, Molecular Structure, Stereoisomerism, Benzimidazoles chemical synthesis, Copper chemistry
- Abstract
An efficient method for the preparation of various substituted 2-mercapto benzimidazoles from their corresponding thioureas has been developed. S-alkylation of thioureas followed by Cu-catalyzed intramolecular N-arylation furnished substituted 2-mercapto benzimidazoles in high yields and short reaction times. Furthermore, 2-mercapto benzimidazoles substituted with a p-methoxybenzyl group allowed access to benzimidazole thiones.
- Published
- 2009
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33. Hypervalent iodine(III)-mediated regioselective N-acylation of 1,3-disubstituted thioureas.
- Author
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Singh CB, Ghosh H, Murru S, and Patel BK
- Subjects
- Acylation, Molecular Structure, Stereoisomerism, Thiourea analogs & derivatives, Iodobenzenes chemistry, Thiourea chemistry, Urea analogs & derivatives, Urea chemical synthesis
- Abstract
Reaction of asymmetrical 1,3-disubstituted thioureas with diacetoxyiodobenzene (DIB) produces regioselectively N-acetylurea in shorter time. Regioselectivity is dependent on the pKa's of the amine attached to the thiourea moiety with acylation taking place toward the amine having a lower pKa. This is the first example of DIB being employed as an N-acetylating agent. A mechanism for this novel transformation is also proposed. Mild reaction conditions, shorter reaction times, high efficiencies, environmentally benign methods, and facile isolation of the desired product make the present methodology a most suitable alternative.
- Published
- 2008
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34. A DNA fragment from Xq21 replaces a deleted region containing the entire FVIII gene in a severe hemophilia A patient.
- Author
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Murru S, Casula L, Casarino L, Moi P, Rocchi M, Loi A, Figus A, Mannella M, Poddie D, and Kenwrick S
- Subjects
- Adult, Base Sequence, Chromosome Mapping, Cloning, Molecular, DNA genetics, Electrophoresis, Gel, Pulsed-Field, Female, Gene Rearrangement, Humans, In Situ Hybridization, Fluorescence, Male, Molecular Sequence Data, Y Chromosome, Factor VIII genetics, Hemophilia A genetics, Sequence Deletion, X Chromosome
- Abstract
In this paper we report the molecular characterization of a large deletion that removes the entire Factor VIII gene in a severe hemophilia A patient. Accurate DNA analysis of the breakpoint region revealed that a large DNA fragment replaced the 300-kb one, which was removed by the deletion. Pulsed-field gel electrophoresis analysis revealed that the size of the inserted fragment is about 550 kb. In situ hybridization demonstrated that part of the inserted region normally maps to Xq21 and to the tip of the short arm of the Y chromosome (Yp). In our patient this locus is present both in Xq21 and in Xq28, in addition to the Yp, being thus duplicated in the X chromosome. Sequence analysis of the 3' breakpoint suggested that an illegitimate recombination is probably the cause of this complex rearrangement.
- Published
- 1994
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35. A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 Arg----Cys (G18), detected by delta-globin gene analysis in a Greek family.
- Author
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Loudianos G, Murru S, Kanavakis E, Metaxotou-Mavromati A, Theodoropoulou D, Kattamis C, Cao A, and Pirastu M
- Subjects
- Amino Acid Sequence, Base Sequence, Female, Humans, Male, Molecular Sequence Data, Polymerase Chain Reaction, Thalassemia genetics, Hemoglobin A2 genetics
- Published
- 1991
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- View/download PDF
36. A serine-to-arginine (AGT-to-CGT) mutation in codon 549 of the CFTR gene in an Italian patient with severe cystic fibrosis.
- Author
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Sangiuolo F, Novelli G, Murru S, and Dallapiccola B
- Subjects
- Arginine chemistry, Base Sequence, Codon, DNA, Exons, Female, Humans, Male, Molecular Sequence Data, Serine chemistry, Cystic Fibrosis genetics, Mutation
- Published
- 1991
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- View/download PDF
37. Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.
- Author
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Murru S, Casula L, Pecorara M, Mori P, Cao A, and Pirastu M
- Subjects
- Base Sequence, Cloning, Molecular, DNA Topoisomerases, Type I metabolism, Exons, Genes, Humans, Molecular Sequence Data, Restriction Mapping, Factor VIII genetics, Hemophilia A genetics, Multigene Family, Recombination, Genetic
- Abstract
We have characterized an unusual duplication of exon 13 within the factor VIII gene in a patient with a mild form of hemophilia A. This duplication was the result of a nonhomologous breakage and reunion event of two misaligned wild-type chromosomes. Sequence analysis of the breakpoint region revealed the presence of AT-rich sequences and possible topoisomerase I sites, whose involvement in several cases of illegitimate recombination has been postulated.
- Published
- 1990
- Full Text
- View/download PDF
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