Genetics of familial hypercholesterolemia (Q38364881)

2 September 2017

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title

Genetics of familial hypercholesterolemia (English)

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2 September 2017

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6

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2 September 2017

Robert D Steiner

5

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author name string

Ariel Brautbar

1

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2 September 2017

Emili Leary

2

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2 September 2017

Kristen Rasmussen

3

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2 September 2017

Don P Wilson

4

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2 September 2017

publication date

1 April 2015

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Current Atherosclerosis Reports

2 September 2017

published in

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2 September 2017

volume

17

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2 September 2017

issue

4

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2 September 2017

page(s)

491

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Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation

2 September 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

21 January 2018

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Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

21 January 2018

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Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review

21 January 2018

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Prevalence of familial hypercholesterolemia in Johannesburg Jews

21 January 2018

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Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

21 January 2018

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PCSK9: a key modulator of cardiovascular health

21 January 2018

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Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

21 January 2018

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A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene

21 January 2018

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Molecular spectrum of autosomal dominant hypercholesterolemia in France

21 January 2018

1 reference

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Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a Sout

21 January 2018

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A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia

21 January 2018

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The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia

21 January 2018

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Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort

21 January 2018

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https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Mechanisms of disease: genetic causes of familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia

21 January 2018

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https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Lipid disorders and mutations in the APOB gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

A new but frequent mutation of apoB-100-apoB His3543Tyr

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Molecular description of familial defective APOB-100 in Malaysia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Clinical aspects of PCSK9

21 January 2018

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https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Functional analysis of sites within PCSK9 responsible for hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

APOE p.Leu167del mutation in familial hypercholesterolemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Familial hypercholesterolemia: the lipids or the genes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Feedback regulation of cholesterol uptake by the LXR-IDOL-LDLR axis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Cerebrotendinous xanthomatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Psychiatric manifestations in cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

ABCG5/ABCG8 in cholesterol excretion and atherosclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Sitosterolemia: diagnosis, investigation, and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

The effects of sterol structure upon sterol esterification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Genetic basis of sitosterolemia

21 January 2018

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https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Non-cholesterol sterols and cholesterol metabolism in sitosterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

High intestinal cholesterol absorption is associated with cardiovascular disease and risk alleles in ABCG8 and ABO: evidence from the LURIC and YFS cohorts and from a meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Genetic regulation of serum phytosterol levels and risk of coronary artery disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Serum lipids, plant sterols, and cholesterol kinetic responses to plant sterol supplementation in phytosterolemia heterozygotes and control individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Phytosterol feeding causes toxicity in ABCG5/G8 knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Genomic organization of the human lysosomal acid lipase gene (LIPA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Lysosomal acid lipase A and the hypercholesterolaemic phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

The General Public’s Understanding and Perception of Direct-to-Consumer Genetic Test Results

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Individuals' experiences of, and responses to, a negative genetic test result for familial hypercholesterolaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

What is new in familial hypercholesterolemia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Update of the Portuguese Familial Hypercholesterolaemia Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Premature atherosclerosis is not systematic in phytosterolemic patients: Severe hypercholesterolemia as a confounding factor in five subjects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S11883-015-0491-Z

Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.

21 January 2018

1 reference

12 December 2020

Structure of the human apolipoprotein B gene

1 reference

12 December 2020

Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece

1 reference

12 December 2020

A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2

1 reference

12 December 2020

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

1 reference

12 December 2020

Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid

1 reference

12 December 2020

Monitoring of 7α-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report

1 reference

12 December 2020

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer

1 reference

12 December 2020

Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100

1 reference

12 December 2020

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis

1 reference

12 December 2020

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

1 reference

12 December 2020

The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

1 reference

12 December 2020

Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia

1 reference

12 December 2020

Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation

1 reference

12 December 2020

Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family

1 reference

12 December 2020

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia

1 reference

12 December 2020

Molecular characterization of familial hypercholesterolemia in Spain

1 reference

12 December 2020

Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing

1 reference

12 December 2020

Points to consider in the clinical application of genomic sequencing

1 reference

12 December 2020

Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia

1 reference

12 December 2020

Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.

1 reference

12 December 2020

Family letters are an effective way to inform relatives about inherited cardiac disease

1 reference

12 December 2020

Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan

1 reference

12 December 2020

Mutation in CYP27A1 identified in family with coronary artery disease

1 reference

12 December 2020

Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics

1 reference

12 December 2020

Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors

1 reference

12 December 2020

10.1007/S11883-015-0491-Z

Identifiers

DOI

1 reference

Dimensions Publication ID

2 September 2017

1047620061

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1 reference