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1. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Author

Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbà, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josè Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Cefalù, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Pirillo, Angela, and Catapano, Alberico L.

Published
2017
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2. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Author

Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbà, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josè Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Cefalù, Angelo B., Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, and Catapano, Alberico L.

Published
2017
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3. Translating the microRNA signature of microvesicles derived from human coronary artery smooth muscle cells in patients with familial hypercholesterolemia and coronary artery disease

Author

de Gonzalo-Calvo, David, Cenarro, Ana, Garlaschelli, Katia, Pellegatta, Fabio, Vilades, David, Nasarre, Laura, Camino-Lopez, Sandra, Crespo, Javier, Carreras, Francesc, Leta, Rubén, Catapano, Alberico Luigi, Norata, Giuseppe Danilo, Civeira, Fernando, and Llorente-Cortes, Vicenta

Published
2017
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6. The Arachidonic Acid Metabolome Serves as a Conserved Regulator of Cholesterol Metabolism

Author

Demetz, Egon, Schroll, Andrea, Auer, Kristina, Heim, Christiane, Patsch, Josef R., Eller, Philipp, Theurl, Markus, Theurl, Igor, Theurl, Milan, Seifert, Markus, Lener, Daniela, Stanzl, Ursula, Haschka, David, Asshoff, Malte, Dichtl, Stefanie, Nairz, Manfred, Huber, Eva, Stadlinger, Martin, Moschen, Alexander R., Li, Xiaorong, Pallweber, Petra, Scharnagl, Hubert, Stojakovic, Tatjana, März, Winfried, Kleber, Marcus E., Garlaschelli, Katia, Uboldi, Patrizia, Catapano, Alberico L., Stellaard, Frans, Rudling, Mats, Kuba, Keiji, Imai, Yumiko, Arita, Makoto, Schuetz, John D., Pramstaller, Peter P., Tietge, Uwe J.F., Trauner, Michael, Norata, Giuseppe D., Claudel, Thierry, Hicks, Andrew A., Weiss, Guenter, and Tancevski, Ivan

Published
2014
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8. Zc3h10 is a novel mitochondrial regulator

Author

Audano, Matteo, Pedretti, Silvia, Cermenati, Gaia, Brioschi, Elisabetta, Diaferia, Giuseppe Riccardo, Ghisletti, Serena, Cuomo, Alessandro, Bonaldi, Tiziana, Salerno, Franco, Mora, Marina, Grigore, Liliana, Garlaschelli, Katia, Baragetti, Andrea, Bonacina, Fabrizia, Catapano, Alberico Luigi, Norata, Giuseppe Danilo, Crestani, Maurizio, Caruso, Donatella, Saez, Enrique, De Fabiani, Emma, and Mitro, Nico

Published
2018
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16. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Author

Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, SabbÃ&nbsp, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Averna, M., Cefalu', A., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A., Tarugi, P., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalã¹, A., Barbagallo, C., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Vinsin, A., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Chiodo, L., Garlaschelli, K., Manzato, E., Tragni, E., Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Cefalù, Angelo B., Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, and Colombo, Emanuela

Subjects
0301 basic medicine, Candidate gene, Genetic testing, Settore MED/09 - Medicina Interna, Databases, Factual, DNA Mutational Analysis, Disease, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, 0302 clinical medicine, Dyslipidemias, National network, Internal Medicine, Cardiology and Cardiovascular Medicine, Risk Factors, Prospective Studies, Program Development, Prospective cohort study, medicine.diagnostic_test, General Medicine, Prognosis, Cholesterol, Phenotype, Italy, Genetic Markers, medicine.medical_specialty, MEDLINE, Hyperlipoproteinemia Type II, 03 medical and health sciences, Databases, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Factual, Retrospective Studies, business.industry, Settore MED/13 - ENDOCRINOLOGIA, Retrospective cohort study, medicine.disease, Atherosclerosis, Mutation, 030104 developmental biology, Endocrinology, Dyslipidemia, Genetic marker, business
Abstract

Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers. Results and conclusions: From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score >= 6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy. (C) 2017 The Authors. Published by Elsevier Ireland Ltd.

Published
2017

17. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Author

Pirillo, Angela, Garlaschelli, Katia, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Catapano, Alberico L., Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, SabbÃ&nbsp, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Cefalã¹, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Manzato, Enzo, Tragni, Elena, Pirillo, Angela, Garlaschelli, Katia, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Catapano, Alberico L., Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Cefalã¹, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Manzato, Enzo, Tragni, Elena, Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, Cefalù, A. Baldassarre, DI BELLO, Francesca, Pirillo, A., Garlaschelli, K., Arca, M., Averna, M., Bertolini, S., Calandra, S., Tarugi, P., Catapano, A., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Noto, D., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalu', A., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Sun, V., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Casula, M., Chiodo, L., Manzato, E., Tragni, E., and Colombo, Emanuela

Subjects
0301 basic medicine, Apolipoprotein E, Candidate gene, Settore MED/09 - Medicina Interna, Databases, Factual, Apolipoprotein B, DNA Mutational Analysis, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Compound heterozygosity, PCSK9, 0302 clinical medicine, Risk Factors, Receptors, Genetics, Homozygote, Autosomal dominant trait, Pathogenic variants, General Medicine, Prognosis, APOB, LDLR, Cholesterol, Phenotype, Italy, Autosomal Recessive Hypercholesterolemia, Apolipoprotein B-100, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, Preliminary Data, Genetic Markers, Familial hypercholesterolemiaLDLRPCSK9APOBPathogenic variants, Heterozygote, Biology, Pathogenic variant, LDL, Hyperlipoproteinemia Type II, 03 medical and health sciences, Databases, medicine, Internal Medicine, Humans, Genetic Predisposition to Disease, Factual, Settore MED/13 - ENDOCRINOLOGIA, medicine.disease, Atherosclerosis, 030104 developmental biology, Receptors, LDL, Mutation, biology.protein
Abstract

Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major candidate genes for monogenic hypercholesterolemia (LDLR, APOB, PCSK9, APOE, LDLRAP1, STAP1). Results A total of 213 variants were detected in 1076 subjects. About 90% of them had a pathogenic or likely pathogenic variants. More than 94% of patients carried pathogenic variants in LDLR gene, 27 of which were novel. Pathogenic variants in APOB and PCSK9 were exceedingly rare. We found 4 true homozygotes and 5 putative compound heterozygotes for pathogenic variants in LDLR gene, as well as 5 double heterozygotes for LDLR/APOB pathogenic variants. Two patients were homozygous for pathogenic variants in LDLRAP1 gene resulting in autosomal recessive hypercholesterolemia. One patient was found to be heterozygous for the ApoE variant p.(Leu167del), known to confer an FH phenotype. Conclusions This study shows the molecular characteristics of the FH patients identified in Italy over the last two years. Full phenotypic characterization of these patients and cascade screening of family members is now in progress.

Published
2017

18. Myeloid apolipoprotein E controls dendritic cell antigen presentation and T cell activation

Author

Bonacina, Fabrizia, primary, Coe, David, additional, Wang, Guosu, additional, Longhi, Maria P., additional, Baragetti, Andrea, additional, Moregola, Annalisa, additional, Garlaschelli, Katia, additional, Uboldi, Patrizia, additional, Pellegatta, Fabio, additional, Grigore, Liliana, additional, Da Dalt, Lorenzo, additional, Annoni, Andrea, additional, Gregori, Silvia, additional, Xiao, Qingzhong, additional, Caruso, Donatella, additional, Mitro, Nico, additional, Catapano, Alberico L., additional, Marelli-Berg, Federica M., additional, and Norata, Giuseppe D., additional

Published
2018
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19. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Author

Averna, Maurizio, primary, Cefalù, Angelo B., additional, Casula, Manuela, additional, Noto, Davide, additional, Arca, Marcello, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Catapano, Alberico L., additional, Tarugi, Patrizia, additional, Averna, Maurizio, additional, Catapano, Alberico Luigi, additional, Pellegatta, Fabio, additional, Angelico, Francesco, additional, Bartuli, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Arturo, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Rubba, Paolo, additional, Sabbà, Carlo, additional, Sampietro, Tiziana, additional, Sarzani, Riccardo, additional, Tagliabue, Milena Paola, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Montali, Anna, additional, Fortunato, Giuliana, additional, Grigore, Liliana, additional, Del Ben, Maria, additional, Maranghi, Marianna, additional, Barbagallo, Carlo M., additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Vinci, Pierandrea, additional, D'Addato, Sergio, additional, Galbiati, Stella, additional, Nascimbeni, Fabio, additional, Bucci, Marco, additional, Spagnoli, Walter, additional, Cardolini, Iris, additional, Cervelli, Nazzareno, additional, Emanuela, Colombo, additional, Vinsin, A. Sun, additional, Laviola, Luigi, additional, Bello, Francesca, additional, Chiariello, Giuseppe, additional, Predieri, Barbara, additional, Siepi, Donatella, additional, Saitta, Antonino, additional, Giusti, Betti, additional, Pavanello, Chiara, additional, Lussu, Milena, additional, Prati, Lucia, additional, Banderali, Giuseppe, additional, Balleari, Giulia, additional, Montalcini, Tiziana, additional, Scicali, Roberto, additional, Gentile, Luigi, additional, Gentile, Marco, additional, Suppressa, Patrizia, additional, Sbrana, Francesco, additional, Cocci, Guido, additional, Benso, Andrea, additional, Negri, Emanuele Alberto, additional, Ghirardello, Omar, additional, Lorenzo, Vigo, additional, Zambon, Alberto, additional, Enzo, Bonora, additional, Minicocci, Ilenia, additional, Spina, Rossella, additional, Orlando, Camilla, additional, Di Taranto, Maria Donata, additional, Chiodo, Lorenzo, additional, Garlaschelli, Katia, additional, Manzato, Enzo, additional, and Tragni, Elena, additional

Published
2017
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20. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Author

Pirillo, Angela, primary, Garlaschelli, Katia, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Catapano, Alberico L., additional, Catapano, Alberico Luigi, additional, Pellegatta, Fabio, additional, Angelico, Francesco, additional, Bartuli, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Giorgino, Francesco, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Arturo, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Rubba, Paolo, additional, Sabbà, Carlo, additional, Sampietro, Tiziana, additional, Sarzani, Riccardo, additional, Tagliabue, Milena Paola, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Montali, Anna, additional, Noto, Davide, additional, Fortunato, Giuliana, additional, Grigore, Liliana, additional, Del Ben, Maria, additional, Maranghi, Marianna, additional, Cefalù, A. Baldassarre, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Vinci, Pierandrea, additional, D'Addato, Sergio, additional, Galbiati, Stella, additional, Nascimbeni, Fabio, additional, Bucci, Marco, additional, Spagnoli, Walter, additional, Cardolini, Iris, additional, Cervelli, Nazzareno, additional, Emanuela, Colombo, additional, Sun, Vinsin A., additional, Laviola, Luigi, additional, Bello, Francesca, additional, Chiariello, Giuseppe, additional, Predieri, Barbara, additional, Siepi, Donatella, additional, Saitta, Antonino, additional, Giusti, Betti, additional, Pavanello, Chiara, additional, Lussu, Milena, additional, Prati, Lucia, additional, Banderali, Giuseppe, additional, Balleari, Giulia, additional, Montalcini, Tiziana, additional, Scicali, Roberto, additional, Gentile, Luigi, additional, Gentile, Marco, additional, Suppressa, Patrizia, additional, Sbrana, Francesco, additional, Cocci, Guido, additional, Benso, Andrea, additional, Negri, Emanuele Alberto, additional, Ghirardello, Omar, additional, Lorenzo, Vigo, additional, Zambon, Alberto, additional, Enzo, Bonora, additional, Minicocci, Ilenia, additional, Spina, Rossella, additional, Orlando, Camilla, additional, Di Taranto, Maria Donata, additional, Casula, Manuela, additional, Chiodo, Lorenzo, additional, Manzato, Enzo, additional, and Tragni, Elena, additional

Published
2017
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26. Characterization of metabolic syndrome in PLIC cohort

Author

Casula, Manuela, primary, Chiodo, Lorenzo, additional, Baragetti, Andrea, additional, Garlaschelli, Katia, additional, Grigore, Liliana, additional, Norata, Giuseppe Danilo, additional, Pellegatta, Fabio, additional, Redaelli, Laura, additional, Tidone, Cristina, additional, Tragni, Elena, additional, and Catapano, Alberico Luigi, additional

Published
2017
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30. -374 T/A RAGE Polymorphism Is Associated with Chronic Kidney Disease Progression in Subjects Affected by Nephrocardiovascular Disease

Author

Baragetti, Ivano, primary, Norata, Giuseppe Danilo, additional, Sarcina, Cristina, additional, Baragetti, Andrea, additional, Rastelli, Francesco, additional, Buzzi, Laura, additional, Grigore, Liliana, additional, Garlaschelli, Katia, additional, Pozzi, Claudio, additional, and Catapano, Alberico Luigi, additional

Published
2013
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32. Effector Memory T cells Are Associated With Atherosclerosis in Humans and Animal Models

Author

Ammirati, Enrico, primary, Cianflone, Domenico, additional, Vecchio, Viviana, additional, Banfi, Michela, additional, Vermi, Anna C., additional, De Metrio, Monica, additional, Grigore, Liliana, additional, Pellegatta, Fabio, additional, Pirillo, Angela, additional, Garlaschelli, Katia, additional, Manfredi, Angelo A., additional, Catapano, Alberico L., additional, Maseri, Attilio, additional, Palini, Alessio G., additional, and Norata, Giuseppe D., additional

Published
2012
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33. Association between OLR1 K167N SNP and Intima Media Thickness of the Common Carotid Artery in the General Population

Author

Predazzi, Irene Marta, primary, Norata, Giuseppe Danilo, additional, Vecchione, Lucia, additional, Garlaschelli, Katia, additional, Amati, Francesca, additional, Grigore, Liliana, additional, Cutuli, Lucia, additional, Pirillo, Angela, additional, Tramontana, Simona, additional, Romeo, Francesco, additional, Novelli, Giuseppe, additional, and Catapano, Alberico Luigi, additional

Published
2012
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35. Circulating CD4 + CD25 hi CD127 lo Regulatory T-Cell Levels Do Not Reflect the Extent or Severity of Carotid and Coronary Atherosclerosis

Author

Ammirati, Enrico, primary, Cianflone, Domenico, additional, Banfi, Michela, additional, Vecchio, Viviana, additional, Palini, Alessio, additional, De Metrio, Monica, additional, Marenzi, Giancarlo, additional, Panciroli, Claudio, additional, Tumminello, Gabriele, additional, Anzuini, Angelo, additional, Palloshi, Altin, additional, Grigore, Liliana, additional, Garlaschelli, Katia, additional, Tramontana, Simona, additional, Tavano, Davide, additional, Airoldi, Flavio, additional, Manfredi, Angelo A., additional, Catapano, Alberico Luigi, additional, and Norata, Giuseppe Danilo, additional

Published
2010
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36. Effect of treatment with pravastatin or ezetimibe on endothelial function in patients with moderate hypercholesterolemia.

Author

Grigore, Liliana, Raselli, Sara, Garlaschelli, Katia, Redaelli, Laura, Norata, Giuseppe, Pirillo, Angela, and Catapano, Alberico

Subjects
STATINS (Cardiovascular agents), CLINICAL trials, ENDOTHELIUM, HYPERCHOLESTEREMIA, RESEARCH funding, T-test (Statistics), PRAVASTATIN, PRE-tests & post-tests, DATA analysis software, EZETIMIBE, DESCRIPTIVE statistics, PHARMACODYNAMICS, THERAPEUTICS
Abstract

Background/Aim: Statin treatment improves endothelial function. It is matter of debate, however, if this effect of statins is due to their action on low-density lipoprotein cholesterol (LDL-C) or to other non-lipidic (pleiotropic) effects. The aim of this study was to evaluate whether the effect of pravastatin on endothelial function is mediated by pleiotropic effects. We therefore compared the effect of pravastatin and ezetimibe, a cholesterol absorption inhibitor, at doses yielding similar reductions in LDL-C and examined the effect of the two treatments on flow-mediated dilation (FMD) in hypercholesterolemic subjects. Methods: A total of 33 moderately hypercholesterolemic patients were randomized into three treatment groups to receive ezetimibe 10 mg/day ( n = 10), pravastatin 10 mg/day ( n = 13) or no treatment (control, n = 10) for 6 weeks. To assess endothelial function, we determined FMD of the brachial artery non-invasively by high-resolution ultrasound before and after treatment. Results: Ezetimibe and pravastatin treatment reduced LDL-C (mean ± standard error) to a similar extent (−20.6 ± 4.1 vs. −24.1 ± 4.0 %, respectively; P = 0.4771), while no decrease was observed in the control group. FMD increased significantly after treatment with ezetimibe (from 11.4 ± 5.7 to 16.8 ± 3.6 %; P = 0.022) and with pravastatin (from 13.7 ± 4.9 to 17.5 ± 4.4 %; P = 0.0466), but not in the control group. There were no differences in the endothelial function changes between the two treatment groups. Conclusions: In this study, two treatments that lower cholesterol via different mechanisms improved endothelial function to a similar extent, suggesting that the observed effect can be explained by the reduction of cholesterol levels. [ABSTRACT FROM AUTHOR]

Published
2013
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37. Identification of seven loci affecting mean telomere length and their association with disease.

Author

Codd V, Nelson CP, Albrecht E, Mangino M, Deelen J, Buxton JL, Hottenga JJ, Fischer K, Esko T, Surakka I, Broer L, Nyholt DR, Mateo Leach I, Salo P, Hägg S, Matthews MK, Palmen J, Norata GD, O'Reilly PF, Saleheen D, Amin N, Balmforth AJ, Beekman M, de Boer RA, Böhringer S, Braund PS, Burton PR, de Craen AJ, Denniff M, Dong Y, Douroudis K, Dubinina E, Eriksson JG, Garlaschelli K, Guo D, Hartikainen AL, Henders AK, Houwing-Duistermaat JJ, Kananen L, Karssen LC, Kettunen J, Klopp N, Lagou V, van Leeuwen EM, Madden PA, Mägi R, Magnusson PK, Männistö S, McCarthy MI, Medland SE, Mihailov E, Montgomery GW, Oostra BA, Palotie A, Peters A, Pollard H, Pouta A, Prokopenko I, Ripatti S, Salomaa V, Suchiman HE, Valdes AM, Verweij N, Viñuela A, Wang X, Wichmann HE, Widen E, Willemsen G, Wright MJ, Xia K, Xiao X, van Veldhuisen DJ, Catapano AL, Tobin MD, Hall AS, Blakemore AI, van Gilst WH, Zhu H, Erdmann J, Reilly MP, Kathiresan S, Schunkert H, Talmud PJ, Pedersen NL, Perola M, Ouwehand W, Kaprio J, Martin NG, van Duijn CM, Hovatta I, Gieger C, Metspalu A, Boomsma DI, Jarvelin MR, Slagboom PE, Thompson JR, Spector TD, van der Harst P, and Samani NJ

Subjects
Case-Control Studies, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Meta-Analysis as Topic, Risk Factors, Biomarkers, Tumor genetics, Disease genetics, Genetic Loci genetics, Leukocytes metabolism, Telomerase genetics, Telomere genetics
Abstract

Interindividual variation in mean leukocyte telomere length (LTL) is associated with cancer and several age-associated diseases. We report here a genome-wide meta-analysis of 37,684 individuals with replication of selected variants in an additional 10,739 individuals. We identified seven loci, including five new loci, associated with mean LTL (P < 5 × 10(-8)). Five of the loci contain candidate genes (TERC, TERT, NAF1, OBFC1 and RTEL1) that are known to be involved in telomere biology. Lead SNPs at two loci (TERC and TERT) associate with several cancers and other diseases, including idiopathic pulmonary fibrosis. Moreover, a genetic risk score analysis combining lead variants at all 7 loci in 22,233 coronary artery disease cases and 64,762 controls showed an association of the alleles associated with shorter LTL with increased risk of coronary artery disease (21% (95% confidence interval, 5-35%) per standard deviation in LTL, P = 0.014). Our findings support a causal role of telomere-length variation in some age-related diseases.

Published
2013
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38. Circulating CD4+CD25hiCD127lo regulatory T-Cell levels do not reflect the extent or severity of carotid and coronary atherosclerosis.

Author

Ammirati E, Cianflone D, Banfi M, Vecchio V, Palini A, De Metrio M, Marenzi G, Panciroli C, Tumminello G, Anzuini A, Palloshi A, Grigore L, Garlaschelli K, Tramontana S, Tavano D, Airoldi F, Manfredi AA, Catapano AL, and Norata GD

Subjects
Acute Coronary Syndrome immunology, Aged, Angina Pectoris immunology, Biomarkers blood, CD4 Lymphocyte Count, Carotid Artery Diseases diagnostic imaging, Case-Control Studies, Coronary Angiography, Coronary Artery Disease complications, Coronary Artery Disease diagnostic imaging, Female, Flow Cytometry, Forkhead Transcription Factors genetics, Humans, Immunophenotyping, Inflammation Mediators blood, Interleukin-10 blood, Interleukin-10 genetics, Interleukin-6 blood, Male, Middle Aged, Predictive Value of Tests, Prospective Studies, RNA, Messenger blood, Severity of Illness Index, Ultrasonography, Carotid Artery Diseases immunology, Coronary Artery Disease immunology, Interleukin-7 Receptor alpha Subunit blood, T-Lymphocytes, Regulatory immunology
Abstract

Objective: Regulatory T (Treg) cells play a protective role in experimental atherosclerosis. In the present study, we investigated whether the levels of circulating Treg cells relate to the degree of atherosclerosis in carotid and coronary arteries., Methods and Results: We studied 2 distinct populations: (1) 113 subjects, selected from a free-living population (carotid study), in which we measured the intima-media thickness of the common carotid artery, as a surrogate marker of initial atherosclerosis; and (2) 75 controls and 125 patients with coronary artery disease (coronary study): 36 with chronic stable angina, 50 with non-ST-elevation acute coronary syndrome, 39 with ST-elevation acute myocardial infarction. Treg-cell levels were evaluated by flow cytometry (Treg cells identified as CD3(+)CD4(+)CD25(high)CD127(low)) and by mRNA expression of forkhead box P3 or of Treg-associated cytokine interleukin 10. In the carotid study, no correlation was observed between Treg-cell levels and intima-media thickness. No differences in Treg-cell levels were observed comparing rapid versus slow intima-media thickness progressors from a subgroup of patients (n=65), in which prospective data on 6-year intima-media thickness progression were available. In the coronary group, Treg-cell levels were not altered in chronic stable angina patients. In contrast, nonunivocal variations were observed in patients suffering an acute coronary syndrome (with a Treg-cell increase in ST-elevation acute myocardial infarction and a Treg-cell decrease in non-ST-elevation acute coronary syndrome patients)., Conclusions: The results suggest that determination of circulating Treg-cell levels based on flow cytometry or mRNA assessment is not a useful indicator of the extent or severity of atherosclerosis.

Published
2010
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