Výsledky vyhledávání - "Filomena, Campagna"

Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy

Autor: Elena Maria Pennisi, Fabiana Quagliarini, Salvatore DiMauro, Filomena Campagna, Marcello Arca, L. Nanni, Francesco Pierelli, Carlo Casali, Claudio Bruno, Constantine Michailidis

Publikováno v: Biochemical and Biophysical Research Communications. 377:843-846

A subgroup of neutral lipid storage disease has been recently associated with myopathy (NLSDM) and attributed to mutations in the gene (PNPLA2) encoding an adipose triglyceride lipase involved in the degradation of intracellular triglycerides. Five N

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae50d62917076adfa9df223454ba14c3
https://doi.org/10.1016/j.bbrc.2008.10.081

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Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

Autor: Mario Maioli, Stefano Bertolini, Paolo Pintus, Giorgio Ricci, Fausto Cossu, Sebastiano Calandra, Kenneth R. Wilund, Helen H. Hobbs, Renato Fellin, Nicola Glorioso, Filomena Campagna, Ciriaco Carru, Marcello Arca, Jonathan Cohen, Giovanni Zuliani

Publikováno v: The Lancet. 359:841-847

Summary Background Autosomal recessive hypercholesterolaemia (ARH) is caused by mutations in a putative adaptor protein called ARH. This recessive disorder, characterised by severe hypercholesterolaemia, xanthomatosis, and premature coronary artery d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc5a44f343522c4d80ef6d8598367e41
https://doi.org/10.1016/s0140-6736(02)07955-2

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Lack of association of the common TaqIB polymorphism in the cholesteryl ester transfer protein gene with angiographically assessed coronary atherosclerosis

Autor: Filomena Campagna, D. Ombres, Roberto Verna, Marcello Arca, Eva Battiloro, Giorgio Ricci, Anna Montali

Publikováno v: Clinical Genetics. 60:374-380

The anti-atherogenic effect of cholesteryl ester transfer protein (CETP) genetic variants associated with lowered enzyme activity is controversial. Moreover, in a few studies, this effect has been evaluated in the presence of a certain risk factor co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::61bcdec8ff603e732f6574c7baf08201
https://doi.org/10.1034/j.1399-0004.2001.600510.x

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The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis

Autor: Marcello Arca, Gaetano Pannitteri, Anna Montali, Filomena Campagna, Enrico Mangieri, Pietro Paolo Campa, Gaetano Tanzilli, Giorgio Ricci, Francesco Barillà, Fulvia Seccareccia

Publikováno v: Clinical Genetics. 58:369-374

The present study evaluated the role of the common lipoprotein lipase (LPL) mutations on the risk of dyslipidemia and coronary atherosclerosis in an Italian population. Cohorts of 632 patients undergoing coronary angiography, as well as 191 healthy c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f3cb931774dd8b4b58a0a1c8efde1cee
https://doi.org/10.1034/j.1399-0004.2000.580507.x

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The Gln-Arg192 Polymorphism of Human Paraoxonase Gene Is Not Associated With Coronary Artery Disease in Italian Patients

Autor: Fulvia Seccareccia, Renzo Cantini, Giorgio Ricci, Filomena Campagna, Anna Montali, Marcello Arca, D. Ombres, Pietro Paolo Campa, Gaetano Pannitteri, Antonio Candeloro

Publikováno v: Scopus-Elsevier

Abstract —Serum paraoxonase (PON) is an HDL-bound enzyme protecting LDL from oxidation. A common polymorphism of the paraoxonase gene ( PON1 ) involving a Gln-to-Arg interchange at position 192 has been demonstrated to modulate PON activity toward

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::541d695a2052ba04bbdbb335ec6dc54d
https://doi.org/10.1161/01.atv.18.10.1611

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Angiotensin-converting enzyme gene polymorphism is not associated with coronary atherosclerosis and myocardial infarction in a sample of Italian patients

Autor: Gaetano Pannitteri, Anna Montali, Benedetto Marino, Pietro Paolo Campa, Giorgio Ricci, A. Candeloro, Fulvia Seccareccia, R. Cantini, Filomena Campagna, Marcello Arca

Publikováno v: European Journal of Clinical Investigation. 28:485-490

BACKGROUND The deletion (D) allele of the angiotensin-converting enzyme (ACE) gene has been proposed as a genetic marker of the risk of ischaemic heart disease. However, the relationships between ACE genotypes, the development of coronary atheroscler

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https://doi.org/10.1046/j.1365-2362.1998.00313.x

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Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia

Autor: Anna Montali, Fabiana Quagliarini, Francesca Megiorni, Antonio Pizzuti, L. Nanni, Filomena Campagna, Marcello Arca, Ilenia Minicocci

Publikováno v: Atherosclerosis. 213(1)

Familial combined hyperlipidemia (FCHL) has been associated with abnormalities in fatty acid metabolism. The adipose triglyceride lipase (PNPLA2) plays a pivotal role in the turnover of fatty acids in adipose tissue and liver. This study was designed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace339841de6f3e3ee1cc390bd42b7cc
https://pubmed.ncbi.nlm.nih.gov/20832801

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Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia

Autor: Silvia Pitzoi, Fabiana Filigheddu, Giuseppe Argiolas, Marcello Arca, Fabiana Quagliarini, Roberta Zaninello, Stefano Bertolini, Simona Degortes, Chiara Troffa, Roberto Verna, Francesca Frau, Emanuela Bulla, Filomena Campagna, Nicola Glorioso, Tanuccia Secci

Publikováno v: Atherosclerosis. 207(1)

Objective Autosomal recessive hypercholesterolemia (ARH) is a lipid disorder caused by mutations in a specific adaptor protein for the LDL receptor. ARH is rare except in Sardinia where three alleles ( ARH1 , ARH2 and ARH3 ) explain most of cases. Th

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https://pubmed.ncbi.nlm.nih.gov/19477448

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C242T polymorphism of NADPH oxidase p22phox and recurrence of cardiovascular events in coronary artery disease

Autor: Gaetano Tanzilli, Carlo Gaudio, Roberto Verna, Francesco Violi, Filomena Campagna, B. Conti, Annarita Vestri, Pasquale Pignatelli, Marcello Arca, Francesco Barillà, Anna Montali

Objectives— The common C242T polymorphism in the gene for the p22phox subunit of NADPH oxidase has been reported to be negatively associated with oxidative stress, but whether it confers prognostic information is not yet clear. Methods and Results�

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http://hdl.handle.net/2108/293454

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Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene

Autor: Fabiana Quagliarini, Luis Masana, Joan-Carles Vallvé, Marcello Arca, Francesca Meloni, Maria Isabella Sirinian, Francisco José Fuentes-Jimenez, Filomena Campagna, Adriana Alvaro

Autosomal recessive hypercholesterolemia (ARH) is a rare genetic defect that causes marked elevation of plasma low-density lipoprotein cholesterol (LDL-C) and premature atherosclerosis. It is due to mutations in the ARH gene that plays a critical rol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4c5c7f36e7c48bf52d37b939cd40249
http://hdl.handle.net/11573/362388

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