Research Output

Acromegaloid facial appearance (AFA) syndrome: Report of a second family

Dallapiccola, B., Zelante, L., Accadia, L. & Mingarelli, R., 1992, In : Journal of Medical Genetics. 29, 6, p. 419-422 4 p.

Research output: Contribution to journalArticle

Acropustulosis of infancy

Paloni, G., Berti, I. & Cutrone, M., Jul 2013, In : Archives of Disease in Childhood: Fetal and Neonatal Edition. 98, 4

Research output: Contribution to journalArticle

A cross-sectional nationwide survey on esophageal atresia and tracheoesophageal fistula

Pini Prato, A., Carlucci, M., Bagolan, P., Gamba, P. G., Bernardi, M., Leva, E., Paradies, G., Manzoni, C., Noccioli, B., Tramontano, A., Jasonni, V., Vaccarella, F., De Pascale, S., Alberti, D., Riccipetitoni, G., Falchetti, D., Caccia, F., Pelizzo, G., Schleef, J., Lima, M. & 35 others, Andriolo, P., Franchella, A., Cacciari, A., Caravaggi, F., Federici, S., Andermarcher, M., Perrino, G., Codrich, D., Camoglio, F. S., Chiarenza, F. S., Martino, A., Appignani, A., Briganti, V., Caterino, S., Cozzi, D., Messina, M., Rizzo, A., Liotta, L., Salerno, D., Aceti, M. G. R., Bartoli, F., Romeo, C., Esposito, C., Lelli Chiesa, P. L., Clemente, E., Mascia, L., Cacciaguerra, S., Di Benedetto, V., Licciardi, S., De Grazia, E., Ubertazzi, M., Piazza, G., Mattioli, G., Rossi, F. & Nobili, M., Sep 1 2015, In : Journal of Pediatric Surgery. 50, 9, p. 1441-1456 16 p.

Research output: Contribution to journalArticle

A cross-sectional study to estimate high-risk human papillomavirus prevalence and type distribution in Italian women aged 18-26 years

Giambi, C., Donati, S., Carozzi, F., Salmaso, S., Declich, S., Atti, M. L. C. D., Ronco, G., Alibrandi, M. P., Brezzi, S., Collina, N., Franchi, D., Lattanzi, A., Minna, M. C., Nannini, R., Barretta, E., Burroni, E., Gillio-Tos, A., Macallini, V., Pierotti, P. & Bella, A., Feb 7 2013, In : BMC Infectious Diseases. 13, 1, 74.

Research output: Contribution to journalArticle

A cross-sectional survey among physicians on internet use for epilepsy-related information

Brigo, F., Lattanzi, S., Giussani, G., Tassi, L., Pietrafusa, N., Galimberti, C. A., Bragazzi, N. L. & Mecarelli, O., Sep 2020, In : Epilepsy Research. 165, p. 106393

Research output: Contribution to journalArticle

A Cross-Sectional Survey of Near-Infrared Spectroscopy Use in Pediatric Cardiac ICUs in the United Kingdom, Ireland, Italy, and Germany

Hoskote, A. U., Tume, L. N., Trieschmann, U., Menzel, C., Cogo, P., Brown, K. L. & Broadhead, M. W., Jan 1 2016, In : Pediatric Critical Care Medicine. 17, 1, p. 36-44 9 p.

Research output: Contribution to journalArticle

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., McGowan, R., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., Banka, S. & Study, T. DDD., Dec 7 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

Research output: Contribution to journalArticle

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., McGowan, R., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., Banka, S. & The DDD Study, Dec 7 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

Research output: Contribution to journalArticle

Actin cytoskeleton polymerization in Dbl-transformed NIH3T3 fibroblasts is dependent on cell adhesion to specific extracellular matrix proteins

Defilippi, P., Olivo, C., Tarone, G., Mancini, P., Torrisi, M. R. & Eva, A., 1997, In : Oncogene. 14, 16, p. 1933-1943 11 p.

Research output: Contribution to journalArticle

Actin Glutathionylation Increases in Fibroblasts of Patients with Friedreich's Ataxia: A potential role in the pathogenesis of the disease

Pastore, A., Tozzi, G., Gaeta, L. M., Bertini, E., Serafini, V., Di Cesare, S., Bonetto, V., Casoni, F., Carrozzo, R., Federici, G. & Piemonte, F., Oct 24 2003, In : Journal of Biological Chemistry. 278, 43, p. 42588-42595 8 p.

Research output: Contribution to journalArticle

Actin isoforms in growth activated rat aortic smooth msucle cells (SMC) in vitro

Gabbiani, G., Skalli, O., Patebex, P. & Azzarone, B., 1985, In : Federation Proceedings. 44, 4

Research output: Contribution to journalArticle

Action of methotrexate and tofacitinib on directly stimulated and bystander-activated lymphocytes

Piscianz, E., Candilera, V., Valencic, E., Loganes, C., Paron, G., De Iudicibus, S., Decorti, G. & Tommasini, A., Jul 1 2016, In : Molecular Medicine Reports. 14, 1, p. 574-582 9 p.

Research output: Contribution to journalArticle

Activated CD3- CD16+ natural killer cells express a subset of the lymphokine genes induced in activated αβ+ and γδ+ T cells

Biassoni, R., Ferrini, S., Prigione, I., Pelak, V. S., Sekaly, R. P. & Long, E. O., 1991, In : Scandinavian Journal of Immunology. 33, 3, p. 247-252 6 p.

Research output: Contribution to journalArticle

Activated human NK and CD8+ T cells express both TNF-related apoptosis-inducing ligand (TRAIL) and TRAIL receptors but are resistant to TRAIL-mediated cytotoxicity

Mirandola, P., Ponti, C., Gobbi, G., Sponzilli, I., Vaccarezza, M., Cocco, L., Zauli, G., Secchiero, P., Manzoli, F. A. & Vitale, M., Oct 15 2004, In : Blood. 104, 8, p. 2418-2424 7 p.

Research output: Contribution to journalArticle

Activated T lymphocytes in patients with multiple sclerosis

Golaz, J., Steck, A. & Moretta, L., 1983, In : Neurology. 33, 10, p. 1371-1373 3 p.

Research output: Contribution to journalArticle

Activating Killer Immunoglobulin Receptors and HLA-C: a successful combination providing HIV-1 control

Malnati, M. S., Ugolotti, E., Monti, M. C., Battista, D. D., Vanni, I., Bordo, D., Sironi, F., Larghero, P., Marco, E. D., Biswas, P., Poli, G., Vicenzi, E., Riva, A., Tarkowski, M., Tambussi, G., Nozza, S., Tripodi, G., Marras, F., De Maria, A., Pistorio, A. & 1 others, Biassoni, R., Feb 13 2017, In : Scientific Reports. 7, p. 42470

Research output: Contribution to journalArticle

Activating Killer Immunoglobulin Receptors and HLA-C: A successful combination providing HIV-1 control

Malnati, MS., Ugolotti, E., Monti, MC., De Battista, D., Vanni, I., Bordo, D., Sironi, F., Larghero, P., Di Marco, E., Biswas, P., Poli, G., Vicenzi, E., Riva, A., Tarkowski, M., Tambussi, G., Nozza, S., Tripodi, G., Marras, F., De Maria, A., Pistorio, A. & 1 others, Biassoni, R., 2017, In : Scientific Reports. 7, 25, 42470.

Research output: Contribution to journalArticle

Activating KIRs and NKG2C in viral infections: Toward NK cell memory?

Chiesa, M. D., Sivori, S., Carlomagno, S., Moretta, L. & Moretta, A., 2015, In : Frontiers in Immunology. 6, NOV, 573.

Research output: Contribution to journalArticle

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Motta, M., Sagi-Dain, L., Krumbach, O. H. F., Hahn, A., Peleg, A., German, A., Lissewski, C., Coppola, S., Pantaleoni, F., Kocherscheid, L., Altmüller, F., Schanze, D., Logeswaran, T., Chahrokh-Zadeh, S., Munzig, A., Nakhaei-Rad, S., Cavé, H., Ahmadian, M. R., Tartaglia, M. & Zenker, M., May 21 2019, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Cordeddu, V., Yin, J. C., Gunnarsson, C., Virtanen, C., Drunat, S., Lepri, F., De Luca, A., Rossi, C., Ciolfi, A., Pugh, T. J., Bruselles, A., Priest, J. R., Pennacchio, L. A., Lu, Z., Danesh, A., Quevedo, R., Hamid, A., Martinelli, S., Pantaleoni, F., Gnazzo, M. & 19 others, Daniele, P., Lissewski, C., Bocchinfuso, G., Stella, L., Odent, S., Philip, N., Faivre, L., Vlckova, M., Seemanova, E., Digilio, C., Zenker, M., Zampino, G., Verloes, A., Dallapiccola, B., Roberts, A. E., Cavé, H., Gelb, B. D., Neel, B. G. & Tartaglia, M., Nov 1 2015, In : Human Mutation. 36, 11, p. 1080-1087 8 p.

Research output: Contribution to journalArticle

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Flex, E., Jaiswal, M., Pantaleoni, F., Martinelli, S., Strullu, M., Fansa, E. K., Caye, A., De Luca, A., Lepri, F., Dvorsky, R., Pannone, L., Paolacci, S., Zhang, S. C., Fodale, V., Bocchinfuso, G., Rossi, C., Burkitt-Wright, E. M. M., Farrotti, A., Stellacci, E., Cecchetti, S. & 28 others, Ferese, R., Bottero, L., Castro, S., Fenneteau, O., Brethon, B., Sanchez, M., Roberts, A. E., Yntema, H. G., Van Der Burgt, I., Cianci, P., Bondeson, M. L., Digilio, M. C., Zampino, G., Kerr, B., Aoki, Y. K., Loh, M. L., Palleschi, A., Di Schiavi, E., Caré, A., Selicorni, A., Dallapiccola, B., Cirstea, I. C., Stella, L., Zenker, M., Gelb, B. D., Cavé, H., Ahmadian, M. R. & Tartaglia, M., 2014, In : Human Molecular Genetics. 23, 16, p. 4315-4327 13 p., ddu148.

Research output: Contribution to journalArticle

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Capri, Y., Flex, E., Krumbach, O. H. F., Carpentieri, G., Cecchetti, S., Lißewski, C., Rezaei Adariani, S., Schanze, D., Brinkmann, J., Piard, J., Pantaleoni, F., Lepri, F. R., Goh, E. S-Y., Chong, K., Stieglitz, E., Meyer, J., Kuechler, A., Bramswig, N. C., Sacharow, S., Strullu, M. & 13 others, Vial, Y., Vignal, C., Kensah, G., Cuturilo, G., Kazemein Jasemi, N. S., Dvorsky, R., Monaghan, K. G., Vincent, L. M., Cavé, H., Verloes, A., Ahmadian, M. R., Tartaglia, M. & Zenker, M., Jun 6 2019, In : American Journal of Human Genetics. 104, 6, p. 1223-1232 10 p.

Research output: Contribution to journalArticle

Activating NK cell receptor expression/function (NKp30, NKp46, DNAM-1) during chronic viraemic HCV infection is associated with the outcome of combined treatment

Bozzano, F., Picciotto, A., Costa, P., Marras, F., Fazio, V., Hirsch, I., Olive, D., Moretta, L. & de Maria, A., Oct 2011, In : European Journal of Immunology. 41, 10, p. 2905-2914 10 p.

Research output: Contribution to journalArticle

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity

Castiglioni, C., Bertini, E., Orellana, P., Villarroel, C., Las Heras, F., Hinzpeter, D., Paolinelli, P., Bevilacqua, J. A. & Alvarez, K., 2014, In : American Journal of Medical Genetics, Part A. 164, 9, p. 2365-2369 5 p.

Research output: Contribution to journalArticle

Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors

Martinelli, S., Carta, C., Flex, E., Binni, F., Cordisco, E. L., Moretti, S., Puxeddu, E., Tonacchera, M., Pinchera, A., McDowell, H. P., Dominici, C., Rosolen, A., Di Rocco, C., Riccardi, R., Celli, P., Picardo, M., Genuardi, M., Grammatico, P., Sorcini, M. & Tartaglia, M., Apr 15 2006, In : Cancer Genetics and Cytogenetics. 166, 2, p. 124-129 6 p.

Research output: Contribution to journalArticle

Activation-induced cell death and Fas-induced apoptosis in patients with systemic or pauciarticular juvenile idiopathic arthritis

Pignatti, P., Massa, M., Travaglino, P., Meazza, C., Martini, A. & De Benedetti, A. M. F., 2001, In : Clinical and Experimental Rheumatology. 19, 3, p. 339-344 6 p.

Research output: Contribution to journalArticle

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)

Revy, P., Muto, T., Levy, Y., Geissmann, F., Plebani, A., Sanal, O., Catalan, N., Forveille, M., Dufourcq-Lagelouse, R., Gennery, A., Tezcan, I., Ersoy, F., Kayserili, H., Ugazio, A. G., Brousse, N., Muramatsu, M., Notarangelo, L. D., Kinoshita, K., Honjo, T., Fischer, A. & 1 others, Durandy, A., Sep 1 2000, In : Cell. 102, 5, p. 565-575 11 p.

Research output: Contribution to journalArticle

Activation of an endothelial Notch1-Jagged1 circuit induces VCAM1 expression, an effect amplified by interleukin-1β

Verginelli, F., Adesso, L., Limon, I., Alisi, A., Gueguen, M., Panera, N., Giorda, E., Raimondi, L., Ciarapica, R., Campese, A. F., Screpanti, I., Stifani, S., Kitajewski, J., Miele, L., Rota, R. & Locatelli, F., 2015, In : Oncotarget. 6, 41, p. 43216-43229 14 p.

Research output: Contribution to journalArticle

Activation of autophagy, observed in liver tissues from patients with Wilson disease and from Atp7b-deficient animals, protects hepatocytes from copper-induced apoptosis

Polishchuk, E. V., Merolla, A., Lichtmannegger, J., Romano, A., Indrieri, A., Ilyechova, E. Y., Concilli, M., De Cegli, R., Crispino, R., Mariniello, M., Petruzzelli, R., Ranucci, G., Iorio, R., Pietrocola, F., Einer, C., Borchard, S., Zibert, A., Schmidt, H. H., Di Schiavi, E., Puchkova, L. V. & 4 others, Franco, B., Kroemer, G., Zischka, H. & Polishchuk, R. S., Nov 16 2018, In : Gastroenterology.

Research output: Contribution to journalArticle

Activation of Ca2+-dependent K+ and Cl- currents by UTP and ATP in CFPAC-1 cells

Galietta, L. J. V., Zegarra-Moran, O., Mastrocola, T., Wöhrle, C., Rugolo, M. & Romeo, G., Apr 1994, In : Pflugers Archiv European Journal of Physiology. 426, 6, p. 534-541 8 p.

Research output: Contribution to journalArticle

Activation of COL3A1 promoter activity by cyclosporine

Ginevri, F., Gusmano, R., Oleggini, R., Valenti, F., Botti, G., Musante, L., Candiano, G., Ravazzolo, R. & Ghiggeri, G. M., 1998, In : Transplantation Proceedings. 30, 4, p. 955-956 2 p.

Research output: Contribution to journalArticle

Activation of double-stranded RNA dependent protein kinase by ribosomal RNA precursors

Bottazzi, B., Clayton, M. & Varesio, L., Oct 1987, In : Cytotechnology. 1, 1, p. 57-60 4 p.

Research output: Contribution to journalArticle

Activation of G551D CFTR channel with MPB-91: Regulation by ATPase activity and phosphorylation

Dérand, R., Bulteau-Pignoux, L., Mettey, Y., Zegarra-Moran, O., Howell, L. D., Randak, C., Galietta, L. J. V., Cohn, J. A., Norez, C., Romio, L., Vierfond, J. M., Joffre, M. & Becq, F., 2001, In : American Journal of Physiology - Cell Physiology. 281, 5 50-5

Research output: Contribution to journalArticle

Activation of hepatic stem cells compartment during hepatocarcinogenesis in a HBsAg HBV-transgenic mouse model

Anfuso, B., El-Khobar, K. E., Ie, S. I., Avellini, C., Radillo, O., Raseni, A., Tiribelli, C. & Sukowati, C. H. C., Dec 1 2018, In : Scientific Reports. 8, 1, 13168.

Research output: Contribution to journalArticle

Activation of human immunodeficiency virus long terminal repeat by arachidonic acid

Carini, R., Leonarduzzi, G., Camandola, S., Musso, T., Varesio, L., Baeuerle, P. A. & Poli, G., 1996, In : Free Radical Biology and Medicine. 22, 1-2, p. 195-199 5 p.

Research output: Contribution to journalArticle

Activation of human NK cells by plasmacytoid dendritic cells and its modulation by CD4+ T helper cells and CD4+ CD25hi T regulatory cells

Romagnani, C., Della Chiesa, M., Kohler, S., Moewes, B., Radbruch, A., Moretta, L., Moretta, A. & Thiel, A., Aug 2005, In : European Journal of Immunology. 35, 8, p. 2452-2458 7 p.

Research output: Contribution to journalArticle

Activation of human peripheral blood lymphocytes: Effect of concanavalin A and lipopolysaccharide on in vitro synthesis of DNA and immunoglobulins

Nespoli, L., Vitiello, A., Maccario, R., Lanzavecchia, A. & Ugazio, A. G., 1980, In : Scandinavian Journal of Immunology. 12, 2, p. 165-170 6 p.

Research output: Contribution to journalArticle

Activation of immature dendritic cells via membrane sialophorin (CD43)

Fanales-Belasio, E., Zambruno, G., Cavani, A. & Girolomoni, G., 1997, In : Advances in Experimental Medicine and Biology. 417, p. 207-212 6 p.

Research output: Contribution to journalArticle

Activation of murine macrophages. I. Different pattern of activation by Poly I: C than by lymphokine or LPS

Taramelli, D. & Varesio, L., 1981, In : Journal of Immunology. 127, 1, p. 58-63 6 p.

Research output: Contribution to journalArticle

Activation of NADPH oxidase and phosphorylation of membrane proteins in human neutrophils: Coordinate inhibition by a surface antigen-directed monoclonal antibody

Pontremoli, S., Melloni, E., Salamino, F., Sparatore, B., Michetti, M., Sacco, O. & Horecker, B. L., Nov 14 1986, In : Biochemical and Biophysical Research Communications. 140, 3, p. 1121-1126 6 p.

Research output: Contribution to journalArticle

Activation of PKC-β isoforms mediates HNE-induced MCP-1 release by macrophages

Nitti, M., Domenicotti, C., D'Abramo, C., Assereto, S., Cottalasso, D., Melloni, E., Poli, G., Biasi, F., Marinari, U. M. & Pronzato, M. A., 2002, In : Biochemical and Biophysical Research Communications. 294, 3, p. 547-552 6 p.

Research output: Contribution to journalArticle

Activation of T cells via tumor antigen specific chimeric receptors: The role of the intracellular signaling domain

Losch, F. O., Müller, R., Mutschler, B., Neri, D., Natali, P. G., Reth, M. & Carsetti, R., Jan 20 2003, In : International Journal of Cancer. 103, 3, p. 399-407 9 p.

Research output: Contribution to journalArticle

Activation of the intracellular glutathione system by oxydative stress during cardiopulmonary bypass and myocardial perfusion

Tao, S., Calza, G., Lerzo, F., Virgone, A., Camassa, N., Panizzon, G., Bertolini, A., Brunelli, L., Moretti, R., Grasso, P. & Ghiggeri, G., 1995, In : Perfusion. 10, 1, p. 45-50 6 p.

Research output: Contribution to journalArticle

Activation of the nitric oxide synthase pathway represents a key component of tumor necrosis factor-related apoptosis-inducing ligand-mediated cytotoxicity on hematologic malignancies

Secchiero, P., Gonelli, A., Celeghini, C., Mirandola, P., Guidotti, L., Visani, G., Capitani, S. & Zauli, G., Oct 1 2001, In : Blood. 98, 7, p. 2220-2228 9 p.

Research output: Contribution to journalArticle

Activation of the p53 pathway down-regulates the osteoprotegerin expression and release by vascular endothelial cells

Secchiero, P., Corallini, F., Rimondi, E., Chiaruttini, C., Grazia Di Iasio, M., Rustighi, A., Del Sal, G. & Zauli, G., 2008, In : Blood. 111, 3, p. 1287-1294 8 p.

Research output: Contribution to journalArticle

Activation of the p53 pathway induces α-smooth muscle actin expression in both myeloid leukemic cells and normal macrophages

Secchiero, P., Rimondi, E., di Iasio, M. G., Voltan, R., Gonelli, A. & Zauli, G., May 2012, In : Journal of Cellular Physiology. 227, 5, p. 1829-1837 9 p.

Research output: Contribution to journalArticle

Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells

Rega, L. R., Polishchuk, E., Montefusco, S., Napolitano, G., Tozzi, G., Zhang, J., Bellomo, F., Taranta, A., Pastore, A., Polishchuk, R., Piemonte, F., Medina, D. L., Catz, S. D., Ballabio, A. & Emma, F., Apr 1 2016, In : Kidney International. 89, 4, p. 862-873 12 p.

Research output: Contribution to journalArticle