Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

Show other versions (1)

OBJECTIVE - : Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not...

书目详细资料
Main Authors:	Stitziel, N, Fouchier, S, Sjouke, B, Peloso, G, Moscoso, A, Auer, P, Goel, A, Gigante, B, Barnes, T, Melander, O, Orho-Melander, M, Duga, S, Sivapalaratnam, S, Nikpay, M, Martinelli, N, Girelli, D, Jackson, R, Kooperberg, C, Lange, L, Ardissino, D, McPherson, R, Farrall, M, Watkins, H, Reilly, M, Rader, D
格式:	Journal article
语言:	English
出版:	2013

相似书籍

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
由: Stitziel, N, et al.
出版: (2013)

Meta-analysis of gene-level tests for rare variant association
由: Liu, D, et al.
出版: (2014)

Meta-analysis of gene-level tests for rare variant association.
由: Liu, D, et al.
出版: (2014)

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
由: Do, R, et al.
出版: (2014)

New insights into impaired muscle glycogen synthesis.
由: Leif Groop, et al.
出版: (2008-01-01)

Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
由: Schick, U, et al.
出版: (2015)

Plasma Metabolome Predicts Aortic Stiffness and Future Risk of Coronary Artery Disease and Mortality After 23 Years of Follow‐Up in the General Population
由: Filip Ottosson, et al.
出版: (2024-05-01)

A favorable lifestyle lowers the risk of coronary artery disease consistently across strata of non-modifiable risk factors in a population-based cohort
由: Kristian Dimovski, et al.
出版: (2019-11-01)

Long-standing, Untreated Case of Autosomal Recessive Hypercholesterolemia in a Child
由: Neha Goel, et al.
出版: (2024-11-01)

Interaction between blood pressure and genetic risk score for bladder cancer, and risk of urothelial carcinoma in men
由: Stanley Teleka, et al.
出版: (2022-10-01)

A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women[S]
由: Viktor Hamrefors, et al.
出版: (2010-03-01)

Putative role for the calpain 10 gene in free fatty acid metabolism.
由: Orho-Melander, M, et al.
出版: (2001)

A healthy dietary metabolic signature is associated with a lower risk for type 2 diabetes and coronary artery disease
由: Einar Smith, et al.
出版: (2022-04-01)

Characterization of the annexin I gene and evaluation of its role in type 2 diabetes.
由: Lindgren, C, et al.
出版: (2001)

Functional characterisation of the glucokinase regulatory protein gene variant P446L shows diminished regulation by fructose-6 phosphate resulting in increased glucokinase activity
由: Beer, N, et al.
出版: (2009)

A genome-wide search for susceptiblity loci to the metabolic syndrome in the Botnia study
由: Wieslander, J, et al.
出版: (2000)

A prospective study of dietary and supplemental zinc intake and risk of type 2 diabetes depending on genetic variation in SLC30A8
由: Isabel Drake, et al.
出版: (2017-10-01)

Variants in the calpain-10 gene predispose to insulin resistance and elevated free fatty acid levels.
由: Orho-Melander, M, et al.
出版: (2002)

Very short sleep duration reveals a proteomic fingerprint that is selectively associated with incident diabetes mellitus but not with incident coronary heart disease: a cohort study
由: Thomas Svensson, et al.
出版: (2024-04-01)

Biological, clinical and population relevance of 95 loci for blood lipids.
由: Teslovich, T, et al.
出版: (2010)

Circulating protein biomarkers predict incident hypertensive heart failure independently of N‐terminal pro‐B‐type natriuretic peptide levels
由: Celine Fernandez, et al.
出版: (2020-08-01)

Blood pressure and bladder cancer risk in men by use of survival analysis and in interaction with NAT2 genotype, and by Mendelian randomization analysis.
由: Stanley Teleka, et al.
出版: (2020-01-01)

Elevated soluble LOX-1 predicts risk of first-time myocardial infarction
由: Alexandru Schiopu, et al.
出版: (2023-12-01)

Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study
由: Laura D’Erasmo, et al.
出版: (2022-08-01)

Inactivating mutations in NPC1L1 and protection from coronary heart disease.
由: Stitziel, N, et al.
出版: (2014)

Genome wide scan and fine-mapping for early onset primary hypertension susceptibility loci in Scandinavian families
由: Wowern, F, et al.
出版: (2002)

DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA: A WORK IN PROGRESS
由: Diane E. MacDougall, et al.
出版: (2023-03-01)

Lifestyle and genetic risk of chronic liver disease in metabolically healthy and unhealthy individuals from the general population
由: Isabel Drake, et al.
出版: (2024-08-01)

Dimethylguanidino Valerate: A Lifestyle‐Related Metabolite Associated With Future Coronary Artery Disease and Cardiovascular Mortality
由: Filip Ottosson, et al.
出版: (2019-10-01)

A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study
由: Burtt Nöel P, et al.
出版: (2007-09-01)

Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia
由: Frederick J. Raal, et al.
出版: (2016-06-01)

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
由: Crosby, J, et al.
出版: (2014)

Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection
由: Jesús M. Martín-Campos, et al.
出版: (2020-09-01)

ADAMTS-7 is associated with a high-risk plaque phenotype in human atherosclerosis
由: Eva Bengtsson, et al.
出版: (2017-06-01)

Genetic variation in the fat mass and obesity-associated gene (FTO) in association with food preferences in healthy adults
由: Louise Brunkwall, et al.
出版: (2013-04-01)

Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort
由: Isabella Ramos Lima, et al.
出版: (2022-08-01)

Ultima Ratio in European Criminal Law
由: Sakari Melander
出版: (2012-05-01)

Kriminaliseringsprinciper och förutsättningar för begränsning av grundläggande fri- och rättigheter
由: Sakari Melander
出版: (2002-12-01)

Att göra högre studier tillgängligliga – ett lärarperspektiv
由: Stina Melander
出版: (2020-11-01)

Ultima Ratio in European Criminal Law
由: Sakari Melander
出版: (2013-01-01)