Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

Authors: Elena Olmastroni, Marta Gazzotti, Maurizio Averna, Marcello Arca, Patrizia Tarugi, Sebastiano Calandra, Stefano Bertolini, Alberico L. Catapano, Manuela Casula

Source: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 12, Iss 10 (2023)

Subject Terms: cardiovascular risk, clinical diagnosis, familial hypercholesterolemia, lipoprotein(a), Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9980

Access URL: https://doaj.org/article/824df55f452e4ba28aff9a337cba2499

The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group

Authors: Marta Gazzotti, Manuela Casula, Stefano Bertolini, Maria Elena Capra, Elena Olmastroni, Alberico Luigi Catapano, Cristina Pederiva, the LIPIGEN Paediatric Group, Massimiliano Allevi, Marcello Arca, Renata Auricchio, Maurizio Averna, Davide Baldera, Giuseppe Banderali, Andrea Bartuli, Giacomo Biasucci, Claudio Borghi, Patrizia Bruzzi, Raffaele Buganza, Paola Sabrina Buonuomo, Paolo Calabrò, Sebastiano Calandra, Francesca Carubbi, Arturo Cesaro, Francesco Cipollone, Nadia Citroni, Giuseppe Covetti, Annalaura Cremonini, Sergio D’Addato, Maria Del Ben, Maria Donata Di Taranto, Giuliana Fortunato, Roberto Franceschi, Federica Galimberti, Simonetta Genovesi, Antonina Giammanco, Liliana Grigore, Ornella Guardamagna, Arcangelo Iannuzzi, Gabriella Iannuzzo, Lorenzo Iughetti, Lidia Lascala, Fabiana Locatelli, Sara Madaghiele, Giuseppe Mandraffino, Massimo Raffaele Mannarino, Bucci Marco, Lorenzo Maroni, Ilenia Minicocci, Giuliana Mombelli, Sandro Muntoni, Fabio Nascimbeni, Gianfranco Parati, Angelina Passaro, Chiara Pavanello, Fabio Pellegatta, Francesco Massimo Perla, Matteo Pirro, Livia Pisciotta, Arturo Pujia, Francesco Purrello, Elisabetta Rinaldi, Riccardo Sarzani, Roberto Scicali, Patrizia Suppressa, Patrizia Tarugi, Sabrina Verachtert, Giovanni Battista Vigna, Josè Pablo Werba, Alberto Zambon, Sabina Zambon, Maria Grazia Zenti

Source: Frontiers in Genetics, Vol 13 (2022)

Subject Terms: familial hypercholesterolemia, pediatric cohort, genetic diagnosis, pathology register, clinical diagnosis, cardiovascular genetics, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.912510/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/89bbc97e24a34c4996186aca15b69866

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis[S]

Authors: Ilenia Minicocci, Sara Santini, Vito Cantisani, Nathan Stitziel, Sekar Kathiresan, Juan Antonio Arroyo, Gertrudis Martí, Livia Pisciotta, Davide Noto, Angelo B. Cefalù, Marianna Maranghi, Giancarlo Labbadia, Giovanni Pigna, Fabio Pannozzo, Fabrizio Ceci, Ester Ciociola, Stefano Bertolini, Sebastiano Calandra, Patrizia Tarugi, Maurizio Averna, Marcello Arca

Source: Journal of Lipid Research, Vol 54, Iss 12, Pp 3481-3490 (2013)

Subject Terms: ANGPTL3 mutations, angiopoietin-like 3, cardiovascular disease, fatty liver, diabetes mellitus, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520356996; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/5b85b008f28e45d7a8865bda58dd9395

Lipoprotein Glomerulopathy Associated with a Mutation in Apolipoprotein E

Authors: Riccardo Magistroni, Marco Bertolotti, Luciana Furci, Rita Adriana Fano, Marco Leonelli, Livia Pisciotta, Elisa Pellegrini, Laura Calabresi, Stefano Bertolini, Sebastiano Calandra

Source: Clinical Medicine Insights: Case Reports, Vol 2013, Iss 6, Pp 189-196 (2013)

Subject Terms: Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.la-press.com/lipoprotein-glomerulopathy-associated-with-a-mutation-in-apolipoprotei-article-a3989; https://doaj.org/toc/1179-5476

Access URL: https://doaj.org/article/c8d76ff1cf044c4bb46796e24d28398a

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Authors: Sebastiano Calandra, Patrizia Tarugi, Helen E. Speedy, Andrew F. Dean, Stefano Bertolini, Carol C. Shoulders

Source: Journal of Lipid Research, Vol 52, Iss 11, Pp 1885-1926 (2011)

Subject Terms: intestinal sterol absorption and efflux, cellular cholesterol synthesis, lipoprotein assembly, gallstones, LDL uptake, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520350811; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/004457eb37a7421e8f2b1c85c455dc17

Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency

Authors: Tommaso Fasano, Letizia Bocchi, Livia Pisciotta, Stefano Bertolini, Sebastiano Calandra

Source: Journal of Lipid Research, Vol 46, Iss 4, Pp 817-822 (2005)

Subject Terms: high density lipoprotein, ATP binding cassette transporter A1, heteroduplexes, sequence variants, primary hypoalphalipoproteinemia, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520340177; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/3cda3cae15194ee4b3fa77a68d0d15ef

Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

Authors: Serena Altilia, Livia Pisciotta, Rita Garuti, Patrizia Tarugi, Alfredo Cantafora, Laura Calabresi, Jacopo Tagliabue, Sergio Maccari, Franco Bernini, Ilaria Zanotti, Carlo Vergani, Stefano Bertolini, Sebastiano Calandra

Source: Journal of Lipid Research, Vol 44, Iss 2, Pp 254-264 (2003)

Subject Terms: ABCA1 minigenes, in vitro splicing, donor splice site mutation, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520312128; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/eb6e958ad20e4b4cb77ab5e79e99a6b5

Niemann-Pick type C disease

Authors: Patrizia Tarugi, Giorgia Ballarini, Bruno Bembi, Carla Battisti, Silvia Palmeri, Francesca Panzani, Enza Di Leo, Cristina Martini, Antonio Federico, Sebastiano Calandra

Source: Journal of Lipid Research, Vol 43, Iss 11, Pp 1908-1919 (2002)

Subject Terms: monoallelic expression, abnormal mRNA decay, splicing defects, alternative splicing, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520327668; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/c851977574dc48e288e06f70434e4577

Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene

Authors: Patrizia Tarugi, Amedeo Lonardo, Carlo Gabelli, Franca Sala, Giorgia Ballarini, Irene Cortella, Lorenzo Previato, Stefano Bertolini, Renzo Cordera, Sebastiano Calandra

Source: Journal of Lipid Research, Vol 42, Iss 10, Pp 1552-1561 (2001)

Subject Terms: truncated apoBs, fatty liver, lipid malabsorption, carotid atherosclerosis, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520322082; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/78987decb10a424390fe9e32d8e9ebce

Analysis of two duplications of the LDL receptor gene affectingintracellular transport, catabolism, and surface binding of the LDLreceptor

Authors: Dilip.D. Patel, Nicoletta Lelli, Rita Garuti, Salvatore Li Volti, Stefano Bertolini, Brian L. Knight, Sebastiano Calandra

Source: Journal of Lipid Research, Vol 39, Iss 7, Pp 1466-1475 (1998)

Subject Terms: familial hypercholesterolemia, amino acid sequence, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520325281; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/64866ca961af47379d1c2aa2f598c9ea

Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction

Authors: Alfredo Cantafora, Ida Blotta, Elisabetta Mercuri, Sebastiano Calandra, Stefano Bertolini

Source: Journal of Lipid Research, Vol 39, Iss 5, Pp 1101-1105 (1998)

Subject Terms: allele-specific primers, polymerase chain reaction amplification of specific alleles, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520338797; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/2dab7a4b5d9249ea99e90d7a844ae4e6

Secretion of apoB- and apoA-I-containing lipoproteins by chick kidney

Authors: Patrizia Tarugi, Giorgia Ballarini, Barbara Pinotti, Antonella Franchini, Enzo Ottaviani, Sebastiano Calandra

Source: Journal of Lipid Research, Vol 39, Iss 4, Pp 731-743 (1998)

Subject Terms: chick kidney, apolipoprotein synthesis, lipoprotein secretion, tubular epithelial cells, immunohistochemistry, Biochemistry, QD415-436

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520325621; https://doaj.org/toc/0022-2275

Access URL: https://doaj.org/article/42d3dc94ba3d444391c5da98788e4036

Lipoprotein(a) and family history for cardiovascular disease in paediatric patients: A new frontier in cardiovascular risk stratification. Data from the LIPIGEN paediatric group

Authors: Pederiva, Cristina, Capra, Maria Elena, Biasucci, Giacomo, Banderali, Giuseppe, Fabrizi, Enrico, Gazzotti, Marta, Casula, Manuela, Catapano, Alberico L., Marcello, Arca, Maurizio, Averna, Stefano, Bertolini, Sebastiano, Calandra, Luigi, Catapano Alberico, Patrizia, Tarugi, Fabio, Pellegatta

Source: Atherosclerosis. 349:233-239

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100170818426.0x000001&indx=1&recIds=ETOCvdc_100170818426.0x000001

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.

Authors: Sebastiano Calandra

Source: Current Opinion in Lipidology; Apr2006, Vol. 17 Issue 2, p122-127, 6p

Quantitative polymerase chain reaction and microchip electrophoresis to detect major rearrangements of the low-density lipoprotein receptor gene causing familial hypercholesterolemia.

Authors: Alfredo Cantafora, Ida Blotta, Elisabetta Pino, Livia Pisciotta, Sebastiano Calandra, Stefano Bertolini

Source: Electrophoresis; Nov2004, Vol. 25 Issue 21/22, p3882-3889, 8p

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study.

Authors: Carla Battisti, Patrizla Tarugi, Maria Teresa Dotti, Nicola De Stefano, Angelo Vattimo, Francesea Chierichetti, Sebastiano Calandra, Antonio Federico

Source: Movement Disorders; Nov2003, Vol. 18 Issue 11, p1405-1409, 5p

Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy.

Authors: Callum J. Wilson, Claudio Priore Oliva, Franco Maggi, Alberico L. Catapano, Sebastiano Calandra

Source: Annals of Neurology; Jun2003, Vol. 53 Issue 6, p807-810, 4p

Molecular characterization of two patients with severe LCAT deficiency.

Authors: Valentine Charlton-Menys, Livia Pisciotta, Paul N. Durrington, Richard Neary, Colin D. Short, Laura Calabresi, Sebastiano Calandra, Stefano Bertolini

Source: Nephrology Dialysis Transplantation; Aug2007, Vol. 22 Issue 8, p2379-2379, 1p