1 - 25 of 44 results for author:"Bertolini S." in Literature citations
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| Cigarette smoke and its component acrolein augment IL-8/CXCL8 mRNA stability via p38 MAPK/MK2 signaling in human pulmonary cells. Moretto N., Bertolini S., Iadicicco C., Marchini G., Kaur M., Volpi G., Patacchini R., Singh D., Facchinetti F. Am. J. Physiol. Lung Cell Mol. Physiol. 303:L929-38(2012) · Mapped (7) |
| Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease. Fasano T., Pisciotta L., Bocchi L., Guardamagna O., Assandro P., Rabacchi C., Zanoni P., Filocamo M., Bertolini S., Calandra S. Mol. Genet. Metab. 105:450-456(2012) · Mapped (7) |
| Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3. Pisciotta L., Favari E., Magnolo L., Simonelli S., Adorni M.P., Sallo R., Fancello T., Zavaroni I., Ardigo D., Bernini F. et al. Circ Cardiovasc Genet 5:42-50(2012) · Mapped (5) |
| Multiple abnormally spliced ABCA1 mRNAs caused by a novel splice site mutation of ABCA1 gene in a patient with Tangier disease. Bocchi L., Pisciotta L., Fasano T., Candini C., Puntoni M.R., Sampietro T., Bertolini S., Calandra S. Clin. Chim. Acta 411:524-530(2010) · Mapped (8) |
| Connections between genetics and clinical data: Role of MCP-1, CFTR, and SPINK-1 in the setting of acute, acute recurrent, and chronic pancreatitis. Cavestro G.M., Zuppardo R.A., Bertolini S., Sereni G., Frulloni L., Okolicsanyi S., Calzolari C., Singh S.K., Sianesi M., Del Rio P. et al. Am. J. Gastroenterol. 105:199-206(2010) · Mapped (49) |
| Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia. Filigheddu F., Quagliarini F., Campagna F., Secci T., Degortes S., Zaninello R., Argiolas G., Verna R., Pitzoi S., Frau F. et al. Atherosclerosis 207:162-167(2009) · Mapped (3) |
| An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia. Rabacchi C., Wunsch A., Ghisellini M., Marino M., Pisciotta L., Bertolini S., Calandra S. Clin. Chim. Acta 406:75-80(2009) · Mapped (7) |
| The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia. Guardamagna O., Restagno G., Rolfo E., Pederiva C., Martini S., Abello F., Baracco V., Pisciotta L., Pino E., Calandra S. et al. J. Pediatr. 155:199-204.e2(2009) · Mapped (8) |
| Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene. Pisciotta L., Fresa R., Bellocchio A., Pino E., Guido V., Cantafora A., Di Rocco M., Calandra S., Bertolini S. Mol. Genet. Metab. 97:143-148(2009) · Mapped (7) |
| Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia. Di Leo E., Magnolo L., Pinotti E., Martini S., Cortella I., Vitturi N., Rabacchi C., Wunsch A., Pucci F., Bertolini S. et al. Mol. Genet. Metab. 96:66-72(2009) · Mapped (12) |
| Severe HDL deficiency due to novel defects in the ABCA1 transporter. Pisciotta L., Bocchi L., Candini C., Sallo R., Zanotti I., Fasano T., Chakrapani A., Bates T., Bonardi R., Cantafora A. et al. J. Intern. Med. 265:359-372(2009) · Mapped (8) |
| Traditional and non traditional risk factors in accelerated atherosclerosis in systemic lupus erythematosus: role of vascular endothelial growth factor (VEGATS Study). Colombo B.M., Cacciapaglia F., Puntoni M., Murdaca G., Rossi E., Rodriguez G., Nobili F., Pisciotta L., Bertolini S., Moccetti T. et al. Autoimmun Rev 8:309-315(2009) · Mapped (7) |
| Therapeutic management of a new case of LCAT deficiency with a multifactorial long-term approach based on high doses of angiotensin II receptor blockers (ARBs). Aranda P., Valdivielso P., Pisciotta L., Garcia I., Garca A-Arias C., Bertolini S., Marta N-Reyes G., Gonza Lez-Santos, Calandra S. Clin. Nephrol. 69:213-218(2008) · Mapped (2) |
| Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene. Mannucci L., Guardamagna O., Bertucci P., Pisciotta L., Liberatoscioli L., Bertolini S., Irace C., Gnasso A., Federici G., Cortese C. Eur. J. Clin. Invest. 37:997-1000(2007) · Mapped (5) |
| A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia. Pisciotta L., Fasano T., Calabresi L., Bellocchio A., Fresa R., Borrini C., Calandra S., Bertolini S. Atherosclerosis 198:145-151(2008) · Mapped (4) |
| Molecular characterization of two patients with severe LCAT deficiency. Charlton-Menys V., Pisciotta L., Durrington P.N., Neary R., Short C.D., Calabresi L., Calandra S., Bertolini S. Nephrol. Dial. Transplant. 22:2379-2382(2007) · Mapped (2) |
| Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients. Pisciotta L., Fasano T., Bellocchio A., Bocchi L., Sallo R., Fresa R., Colangeli I., Cantafora A., Calandra S., Bertolini S. Atherosclerosis 194:e116-22(2007) |
| A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia. Priore Oliva C., Tarugi P., Calandra S., Pisciotta L., Bellocchio A., Bertolini S., Guardamagna O., Schaap F.G. Atherosclerosis 188:215-217(2006) · Mapped (3) |
| APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency. Calandra S., Priore Oliva C., Tarugi P., Bertolini S. Curr. Opin. Lipidol. 17:122-127(2006) · Mapped (3) |
| Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. Pisciotta L., Priore Oliva C., Cefalu A.B., Noto D., Bellocchio A., Fresa R., Cantafora A., Patel D., Averna M., Tarugi P. et al. Atherosclerosis 186:433-440(2006) · Mapped (10) |
| Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes. Sirinian M.I., Belleudi F., Campagna F., Ceridono M., Garofalo T., Quagliarini F., Verna R., Calandra S., Bertolini S., Sorice M. et al. J. Biol. Chem. 280:38416-38423(2005) · Mapped (10) |
| Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes. Pisciotta L., Calabresi L., Lupattelli G., Siepi D., Mannarino M.R., Moleri E., Bellocchio A., Cantafora A., Tarugi P., Calandra S. et al. Atherosclerosis 182:153-159(2005) · Mapped (2) |
| The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Calabresi L., Pisciotta L., Costantin A., Frigerio I., Eberini I., Alessandrini P., Arca M., Bon G.B., Boscutti G., Busnach G. et al. Arterioscler. Thromb. Vasc. Biol. 25:1972-1978(2005) · UniProtKB (1) · Mapped (1) |
| Serum homocysteine, methylenetetrahydrofolate reductase gene polymorphism and cardiovascular disease in heterozygous familial hypercholesterolemia. Pisciotta L., Cortese C., Gnasso A., Liberatoscioli L., Pastore A., Mannucci L., Irace C., Federici G., Bertolini S. Atherosclerosis 179:333-338(2005) · Mapped (6) |
| Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. Fasano T., Bocchi L., Pisciotta L., Bertolini S., Calandra S. J. Lipid Res. 46:817-822(2005) · UniProtKB (1) |