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126 results

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Quoted phrase not found in phrase index: "Hypoalphalipoproteinemia, primary, 1"
Page 1
Primary and familial hypoalphalipoproteinemia.
Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck CJ. Third JL, et al. Metabolism. 1984 Feb;33(2):136-46. doi: 10.1016/0026-0495(84)90126-4. Metabolism. 1984. PMID: 6694557
Our specific aim was to assess within-family clustering of high-density lipoprotein cholesterol (HDLC) levels in kindreds identified through probands with primary hypoalphalipoproteinemia, and to determine whether, and to what degree, familial aggregation of HDLC le …
Our specific aim was to assess within-family clustering of high-density lipoprotein cholesterol (HDLC) levels in kindreds identified through …
Diagnosis and treatment of high density lipoprotein deficiency.
Schaefer EJ, Anthanont P, Diffenderfer MR, Polisecki E, Asztalos BF. Schaefer EJ, et al. Prog Cardiovasc Dis. 2016 Sep-Oct;59(2):97-106. doi: 10.1016/j.pcad.2016.08.006. Epub 2016 Aug 24. Prog Cardiovasc Dis. 2016. PMID: 27565770 Free PMC article. Review.
Low serum high density lipoprotein cholesterol level (HDL-C) <40 mg/dL in men and <50 mg/dL in women is a significant independent risk factor for cardiovascular disease (CVD), and is often observed in patients with hypertriglyceridemia, obesity, insulin resistance, a …
Low serum high density lipoprotein cholesterol level (HDL-C) <40 mg/dL in men and <50 mg/dL in women is a significant independent risk …
Lipoprotein-X fifty years after its original discovery.
Fellin R, Manzato E. Fellin R, et al. Nutr Metab Cardiovasc Dis. 2019 Jan;29(1):4-8. doi: 10.1016/j.numecd.2018.09.006. Epub 2018 Sep 26. Nutr Metab Cardiovasc Dis. 2019. PMID: 30503707 Review.
During cholestasis these mechanisms are altered and there is an accumulation of bile acids and cholesterol in plasma. The hypercholesterolemia observed in cholestasis is due to the presence of an anomalous lipoprotein called lipoprotein-X (Lp-X). ...The frequency of cardio …
During cholestasis these mechanisms are altered and there is an accumulation of bile acids and cholesterol in plasma. The hypercholesterolem …
The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.
Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J. Kuivenhoven JA, et al. J Lipid Res. 1997 Feb;38(2):191-205. J Lipid Res. 1997. PMID: 9162740 Free article. Review.
We define FLD-associated mutations that underlie a complete or nearly complete loss of LCAT activity due to null mutations (Class 1), and missense mutations (Class 2), respectively. In addition, we distinguish two classes of FED-associated mutations (Classes 3, 4) that und …
We define FLD-associated mutations that underlie a complete or nearly complete loss of LCAT activity due to null mutations (Class 1), …
Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.
Geller AS, Polisecki EY, Diffenderfer MR, Asztalos BF, Karathanasis SK, Hegele RA, Schaefer EJ. Geller AS, et al. J Lipid Res. 2018 Dec;59(12):2421-2435. doi: 10.1194/jlr.M088203. Epub 2018 Oct 17. J Lipid Res. 2018. PMID: 30333156 Free PMC article.
Mutations (23 novel) and selected variants were found at the following gene loci: 1) ABCA1 (26.9%): 2 homozygotes, 7 compound or double heterozygotes, 30 heterozygotes, and 2 homozygotes and 13 heterozygotes with variants rs9282541/p.R230C or rs111292742/c.-279C>G; 2) L …
Mutations (23 novel) and selected variants were found at the following gene loci: 1) ABCA1 (26.9%): 2 homozygotes, 7 compound or doub …
Tangier disease: update for 2020.
Hooper AJ, Hegele RA, Burnett JR. Hooper AJ, et al. Curr Opin Lipidol. 2020 Apr;31(2):80-84. doi: 10.1097/MOL.0000000000000669. Curr Opin Lipidol. 2020. PMID: 32022754
Advances have been made in the study of the neurological abnormalities observed in Tangier disease, both in their assessment and the identification of potential new therapies. ...
Advances have been made in the study of the neurological abnormalities observed in Tangier disease, both in their assessment and the …
Hypoalphalipoproteinemia and BRAF(V600E) Mutation Are Major Predictors of Aortic Infiltration in the Erdheim-Chester Disease.
Cohen-Aubart F, Guerin M, Poupel L, Cluzel P, Saint-Charles F, Charlotte F, Arsafi Y, Emile JF, Frisdal E, Le Goff C, Donadieu J, Amoura Z, Lesnik P, Haroche J, Le Goff W. Cohen-Aubart F, et al. Arterioscler Thromb Vasc Biol. 2018 Aug;38(8):1913-1925. doi: 10.1161/ATVBAHA.118.310803. Arterioscler Thromb Vasc Biol. 2018. PMID: 29930009
Approach and Results- An analysis of plasma lipid levels indicated that male ECD patients carrying the BRAF(V600E) (B-Raf proto-oncogene, serine/threonine kinase) mutation exhibited hypoalphalipoproteinemia, as demonstrated by low plasma HDL-C (high-density lipoprotein cho …
Approach and Results- An analysis of plasma lipid levels indicated that male ECD patients carrying the BRAF(V600E) (B-Raf proto-oncogene, se …
Targeted Proteomics Identifies Paraoxonase/Arylesterase 1 (PON1) and Apolipoprotein Cs as Potential Risk Factors for Hypoalphalipoproteinemia in Diabetic Subjects Treated with Fenofibrate and Rosiglitazone.
Ronsein GE, Reyes-Soffer G, He Y, Oda M, Ginsberg H, Heinecke JW. Ronsein GE, et al. Mol Cell Proteomics. 2016 Mar;15(3):1083-93. doi: 10.1074/mcp.M115.054528. Epub 2015 Dec 14. Mol Cell Proteomics. 2016. PMID: 26667175 Free PMC article.
This approach demonstrated marked increases in the relative concentrations of paraoxonase/arylesterase 1 (PON1), apolipoprotein C-II (APOC2), apolipoprotein C-I, and apolipoprotein H in the HDL of subjects who developed hypoalphalipoproteinemia. ...We used orthogona …
This approach demonstrated marked increases in the relative concentrations of paraoxonase/arylesterase 1 (PON1), apolipoprotein C-II …
A proteomic approach to identify novel disease biomarkers in LCAT deficiency.
Simonelli S, Ossoli A, Banfi C, Pavanello C, Calabresi L, Gianazza E. Simonelli S, et al. J Proteomics. 2019 Apr 30;198:113-118. doi: 10.1016/j.jprot.2018.12.005. Epub 2018 Dec 6. J Proteomics. 2019. PMID: 30529744 Free article.
Our data confirm the well-known alterations in the concentration of circulating apolipoproteins, with a statistically significant decrease of both apoA-I and apoA-II and a statistically significant increase of apoC-III. Furthermore, we observed increased level of alpha- …
Our data confirm the well-known alterations in the concentration of circulating apolipoproteins, with a statistically significant decrease o …
Familial hypo-alpha-lipoproteinemia.
Vergani C, Bettale G. Vergani C, et al. Clin Chim Acta. 1981 Jul 18;114(1):45-52. doi: 10.1016/0009-8981(81)90226-6. Clin Chim Acta. 1981. PMID: 7249374
Lipase activity and lecithin:cholesterol acyltransferase activity are also normal. A high prevalence of premature cardiac events was observed in this kindred, without any other established coronary risk factors present. ...
Lipase activity and lecithin:cholesterol acyltransferase activity are also normal. A high prevalence of premature cardiac events was obse …
126 results