Combined familial hyperlipemia is a lipid disorder characterized by elevated cholesterol as well as triglyceride levels. Inheritance is dominant.
On this page a functional classification of combined hyperlipidimias is proposed. This classification is based on localization and function of the protein products encoded by the genes listed.
1. |
Hayden MR et al. (1987) DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. |
2. |
Allayee H et al. (1998) Families with familial combined hyperlipidemia and families enriched for coronary artery disease share genetic determinants for the atherogenic lipoprotein phenotype. |
3. |
Juo SH et al. (1998) A common genetic mechanism determines plasma apolipoprotein B levels and dense LDL subfraction distribution in familial combined hyperlipidemia. |
4. |
Castellani LW et al. (1998) Mapping a gene for combined hyperlipidaemia in a mutant mouse strain. |
5. |
Pajukanta P et al. (1998) Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. |
6. |
Wijsman EM et al. (1998) Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. |
7. |
Bredie SJ et al. (1997) Metabolic and genetic aspects of familial combined hyperlipidaemia with emphasis on low-density lipoprotein heterogeneity. |
8. |
Masucci-Magoulas L et al. (1997) A mouse model with features of familial combined hyperlipidemia. |
9. |
Bredie SJ et al. (1996) Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia. |
10. |
Rotter JI et al. (1996) Multilocus genetic determinants of LDL particle size in coronary artery disease families. |
11. |
Xu CF et al. (1994) Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia. |
12. |
Chait A et al. (1983) Severe hypertriglyceridemia: role of familial and acquired disorders. |
13. |
Kissebah AH et al. () Low density lipoprotein metabolism in familial combined hyperlipidemia. Mechanism of the multiple lipoprotein phenotypic expression. |
14. |
Rose HG et al. (1973) Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype. |
15. |
None (1989) Strong association of a single nucleotide substitution in the 3'-untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs. |
16. |
Babirak SP et al. () Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. |
17. |
Rauh G et al. (1990) Genetic evidence from 7 families that the apolipoprotein B gene is not involved in familial combined hyperlipidemia. |
18. |
Allayee H et al. (2003) Biochemical and genetic association of plasma apolipoprotein A-II levels with familial combined hyperlipidemia. |
19. |
Pajukanta P et al. (2004) Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). |
21. |
Brunzell JD et al. (1983) Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. |
22. |
Goldstein JL et al. (1973) Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. |
23. |
Yang WS et al. (1995) A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. |
24. |
Aouizerat BE et al. (1999) A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. |
25. |
Geurts JM et al. (2000) Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia. |
26. |
Bodnar JS et al. (2002) Positional cloning of the combined hyperlipidemia gene Hyplip1. |
27. |
Brunzell JD et al. (1976) Myocardial infarction in the familial forms of hypertriglyceridemia. |
28. |
Pajukanta P et al. (2003) Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q. |
29. |
van der Vleuten GM et al. (2004) Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia. |
30. |
Wojciechowski AP et al. (1991) Familial combined hyperlipidaemia linked to the apolipoprotein AI-CII-AIV gene cluster on chromosome 11q23-q24. |
31. |
Nishina PM et al. (1992) Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19. |
32. |
Ito Y et al. (1990) Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice. |
33. |
OMIM.ORG article Omim 144250 |