Unraveling the complex genetics of familial combined hyperlipidemia (Q36580345)

15 August 2017

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title

Unraveling the complex genetics of familial combined hyperlipidemia (English)

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15 August 2017

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3

Päivi Pajukanta

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15 August 2017

Elina Suviolahti

1

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15 August 2017

Heidi E Lilja

series ordinal

2

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15 August 2017

language of work or name

English

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publication date

1 January 2006

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15 August 2017

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15 August 2017

volume

38

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15 August 2017

issue

5

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15 August 2017

page(s)

337-351

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Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype.

15 August 2017

cites work

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Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

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Defects of lipoprotein metabolism in familial combined hyperlipidaemia

21 January 2018

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Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23

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Genomewide scan for familial combined hyperlipidemia genes in finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels

21 January 2018

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Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q

21 January 2018

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Linkage of a candidate gene locus to familial combined hyperlipidemia: lecithin:cholesterol acyltransferase on 16q.

21 January 2018

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A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11.

21 January 2018

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Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia

21 January 2018

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Confirmed Locus on Chromosome 11p and Candidate Loci on 6q and 8p for the Triglyceride and Cholesterol Traits of Combined Hyperlipidemia

21 January 2018

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Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

21 January 2018

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Common hepatic nuclear factor-4alpha variants are associated with high serum lipid levels and the metabolic syndrome

21 January 2018

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Binding sites for metabolic disease related transcription factors inferred at base pair resolution by chromatin immunoprecipitation and genomic microarrays

21 January 2018

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Cooperative binding of upstream stimulatory factor and hepatic nuclear factor 4 drives the transcription of the human apolipoprotein A-II gene

21 January 2018

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Two initiator-like elements are required for the combined activation of the human apolipoprotein C-III promoter by upstream stimulatory factor and hepatic nuclear factor-4

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families

21 January 2018

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Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1.

21 January 2018

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An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians

21 January 2018

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Genomewide search for type 2 diabetes-susceptibility genes in French whites: evidence for a novel susceptibility locus for early-onset diabetes on chromosome 3q27-qter and independent replication of a type 2-diabetes locus on chromosome 1q21-q24.

21 January 2018

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A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q

21 January 2018

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Genome-wide and fine-mapping linkage studies of type 2 diabetes and glucose traits in the Old Order Amish: evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21-q24.

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Genome-wide search for type 2 diabetes/impaired glucose homeostasis susceptibility genes in the Chinese: significant linkage to chromosome 6q21-q23 and chromosome 1q21-q24.

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Linkage of the metabolic syndrome to 1q23-q31 in Hispanic families: the Insulin Resistance Atherosclerosis Study Family Study

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Junction adhesion molecule is a receptor for reovirus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

JAM-1 is a ligand of the beta(2) integrin LFA-1 involved in transendothelial migration of leukocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Differential roles of upstream stimulatory factors 1 and 2 in the transcriptional response of liver genes to glucose

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Essential role in vivo of upstream stimulatory factors for a normal dietary response of the fatty acid synthase gene in the liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Identification of upstream stimulatory factor as transcriptional activator of the liver promoter of the glucokinase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

TGF-beta 1-induced PAI-1 expression is E box/USF-dependent and requires EGFR signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Upstream Stimulatory Factor Binding to the E-box at −65 Is Required for Insulin Regulation of the Fatty Acid Synthase Promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Hepatic lipase promoter activity is reduced by the C-480T and G-216A substitutions present in the common LIPC gene variant, and is increased by Upstream Stimulatory Factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Identification of a non-canonical E-box motif as a regulatory element in the proximal promoter region of the apolipoprotein E gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Insulin-mediated down-regulation of apolipoprotein A5 gene expression through the phosphatidylinositol 3-kinase pathway: role of upstream stimulatory factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Functional analysis of the glucose response element of the rat glucagon receptor gene in insulin-producing INS-1 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

The helix-loop-helix transcription factor USF (upstream stimulating factor) binds to a regulatory sequence of the human insulin gene enhancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Upstream stimulatory factor (USF) and neurogenic differentiation/beta-cell E box transactivator 2 (NeuroD/BETA2) contribute to islet-specific glucose-6-phosphatase catalytic-subunit-related protein (IGRP) gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Transcriptional regulation of adipocyte hormone-sensitive lipase by glucose

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

USF1 and dyslipidemias: converging evidence for a functional intronic variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Relationship between stearoyl-CoA desaturase activity and plasma triglycerides in human and mouse hypertriglyceridemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Upstream transcription factor-1 gene polymorphism is associated with increased adipocyte lipolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Variation in USF1 shows haplotype effects, gene : gene and gene : environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Common polymorphisms in the USF1 gene are not associated with type 2 diabetes in French Caucasians

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Mapping a gene for combined hyperlipidaemia in a mutant mouse strain

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Positional cloning of the combined hyperlipidemia gene Hyplip1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Fine mapping of Hyplip1 and the human homolog, a potential locus for FCHL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

TXNIP gene not associated with familial combined hyperlipidemia in the NHLBI Family Heart Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Can we exclude the TXNIP gene as a candidate gene for familial combined hyperlipidemia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Complex genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Two novel apolipoprotein A-IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Evidence Against Linkage of Familial Combined Hyperlipidemia to the Apolipoprotein AI-CIII-AIV Gene Complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

The apoAI-CIII-AIV gene cluster

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Contribution of APOA5 gene variants to plasma triglyceride determination and to the response to both fat and glucose tolerance challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Association of the APOLIPOPROTEIN A1/C3/A4/A5 gene cluster with triglyceride levels and LDL particle size in familial combined hyperlipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Genetic analysis of a polymorphism in the human apoA-V gene: effect on plasma lipids

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Apolipoprotein A5 and triglyceridemia. Focus on the effects of the common variants

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

ApoAV reduces plasma triglycerides by inhibiting very low density lipoprotein-triglyceride (VLDL-TG) production and stimulating lipoprotein lipase-mediated VLDL-TG hydrolysis

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Adenoviral overexpression of apolipoprotein A-V reduces serum levels of triglycerides and cholesterol in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Apolipoprotein A5, a crucial determinant of plasma triglyceride levels, is highly responsive to peroxisome proliferator-activated receptor alpha activators

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined h

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G/D9N variant predisposes to low HDL-C/high triglycerides

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

The lipoprotein lipase (Asn291-->Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Lipoprotein lipase and atherosclerosis

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Identification of an obesity quantitative trait locus on mouse chromosome 2 and evidence of linkage to body fat and insulin on the human homologous region 20q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Polymorphisms in both promoters of hepatocyte nuclear factor 4-alpha are associated with type 2 diabetes in the Amish

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Genetic variation near the hepatocyte nuclear factor-4 alpha gene predicts susceptibility to type 2 diabetes

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Variation near the hepatocyte nuclear factor (HNF)-4alpha gene associates with type 2 diabetes in the Danish population

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor-4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population.

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Locus for quantitative HDL-cholesterol on chromosome 10q in Finnish families with dyslipidemia

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20q13.11 in Finnish families

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Multiple QTLs influencing triglyceride and HDL and total cholesterol levels identified in families with atherogenic dyslipidemia

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Reappraisal of the role of insulin in hypertriglyceridemia.

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

The Gln223Arg polymorphism in the leptin receptor is associated with familial combined hyperlipidemia

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Biochemical and Genetic Association of Plasma Apolipoprotein A-II Levels With Familial Combined Hyperlipidemia

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Apolipoprotein A-II, genetic variation on chromosome 1q21-q24, and disease susceptibility

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Genomics, gene expression and DNA arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Differential gene expression of blood-derived cell lines in familial combined hyperlipidemia

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

A quantitative trait locus on chromosome 16q influences variation in plasma HDL-C levels in Mexican Americans

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Evidence for a gene influencing high-density lipoprotein cholesterol on chromosome 4q31.21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Genetic prediction of future type 2 diabetes

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

A haplotype map of the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

The future of genetic studies of complex human diseases

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890600865759

Coverage and power in genomewide association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Replication of Linkage of Familial Combined Hyperlipidemia to Chromosome 1q With Additional Heterogeneous Effect of Apolipoprotein A-I/C-III/A-IV Locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Familial combined hyperlipidaemia linked to the apolipoprotein AI–CIII–AIV gene cluster on chromosome 11q23q–q24

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890600865759

Up-regulation of CD36/FAT in preadipocytes in familial combined hyperlipidemia

21 January 2018

1 reference

12 August 2022

https://opencitations.net/index/coci/api/v1/citations/10.1096/FJ.04-2403FJE

Identifiers

DOI

10.1080/07853890600865759

1 reference

15 August 2017

1 reference