标题
Genetics of Familial Hypercholesterolemia
作者
关键词
Familial hypercholesterolemia (FH), Low-density lipoprotein receptor (LDLR), Apolipoprotein B (APOB), Familial defective apolipoprotein B-100 (FDB), Proprotein convertase subtilisin/kexin type 9 (PCSK9), Autosomal recessive hypercholesterolemia (ARH), LDL receptor adapter protein 1 (LDLRAP1), Genetic counseling (GC), Cascade testing, Penetrance, Cerebrotendinous xanthomatosis (CTX), Sitosterolemia, Cholesterol ester storage disease (CESD)
出版物
Current Atherosclerosis Reports
Volume 17, Issue 4, Pages -
出版商
Springer Nature
发表日期
2015-02-24
DOI
10.1007/s11883-015-0491-z
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
- (2014) Leslie A. Lange et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing
- (2014) Christine E. Miller et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction
- (2014) Željko Reiner et al. ATHEROSCLEROSIS
- Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 ( PCSK9 ) gain-of-function mutation
- (2014) Hiroshi Mabuchi et al. ATHEROSCLEROSIS
- Premature atherosclerosis is not systematic in phytosterolemic patients: Severe hypercholesterolemia as a confounding factor in five subjects
- (2014) Boris Hansel et al. ATHEROSCLEROSIS
- PCSK9
- (2014) Nabil G. Seidah et al. CIRCULATION RESEARCH
- Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia
- (2014) Sigrid W. Fouchier et al. CIRCULATION RESEARCH
- Living the PCSK9 Adventure: from the Identification of a New Gene in Familial Hypercholesterolemia Towards a Potential New Class of Anticholesterol Drugs
- (2014) Marianne Abifadel et al. Current Atherosclerosis Reports
- Sitosterolemia: Diagnosis, Investigation, and Management
- (2014) Joan Carles Escolà-Gil et al. Current Atherosclerosis Reports
- What is new in familial hypercholesterolemia?
- (2014) Raul D. Santos et al. CURRENT OPINION IN LIPIDOLOGY
- Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology
- (2014) Shailendra B. Patel CURRENT OPINION IN LIPIDOLOGY
- 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
- (2014) M. Cuchel et al. EUROPEAN HEART JOURNAL
- A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis
- (2014) Andrea Mignarri et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Whole exome sequencing of familial hypercholesterolaemia patients negative forLDLR/APOB/PCSK9mutations
- (2014) Marta Futema et al. JOURNAL OF MEDICAL GENETICS
- Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia
- (2013) Zhaoyue Wang et al. AMERICAN JOURNAL OF HEMATOLOGY
- Phytosterol Feeding Causes Toxicity in ABCG5/G8 Knockout Mice
- (2013) Allison L. McDaniel et al. AMERICAN JOURNAL OF PATHOLOGY
- Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
- (2013) Nathan O. Stitziel et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
- (2013) Stefano Bertolini et al. ATHEROSCLEROSIS
- The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia
- (2013) Gert-Jan R. ten Kate et al. ATHEROSCLEROSIS
- Non-cholesterol sterols and cholesterol metabolism in sitosterolemia
- (2013) Rgia A. Othman et al. ATHEROSCLEROSIS
- APOE p.Leu167del mutation in familial hypercholesterolemia
- (2013) Zuhier Awan et al. ATHEROSCLEROSIS
- Molecular Description of Familial Defective APOB-100 in Malaysia
- (2013) Alyaa R. Al-Khateeb et al. BIOCHEMICAL GENETICS
- Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia
- (2013) T. Kanaji et al. BLOOD
- ABCG5/ABCG8 in cholesterol excretion and atherosclerosis
- (2013) Xiao-Hua Yu et al. CLINICA CHIMICA ACTA
- Lysosomal acid lipase A and the hypercholesterolaemic phenotype
- (2013) Sigrid W. Fouchier et al. CURRENT OPINION IN LIPIDOLOGY
- Cerebrotendinous xanthomatosis
- (2013) Ingemar Björkhem CURRENT OPINION IN LIPIDOLOGY
- 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
- (2013) B. G. Nordestgaard et al. EUROPEAN HEART JOURNAL
- Mutation in CYP27A1 identified in family with coronary artery disease
- (2013) Kolsoum InanlooRahatloo et al. European Journal of Medical Genetics
- A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia
- (2013) Muhidien Soufi et al. GENE
- Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease
- (2013) Manisha Balwani et al. HEPATOLOGY
- Frequency of the cholesteryl ester storage disease commonLIPAE8SJM mutation (c.894G>A) in various racial and ethnic groups
- (2013) Stuart A. Scott et al. HEPATOLOGY
- Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation
- (2013) Gerald F. Watts et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis
- (2013) Tim Reynolds JOURNAL OF CLINICAL PATHOLOGY
- Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
- (2013) Donna L. Bernstein et al. JOURNAL OF HEPATOLOGY
- A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns
- (2013) Andrea E. DeBarber et al. JOURNAL OF LIPID RESEARCH
- High Intestinal Cholesterol Absorption Is Associated With Cardiovascular Disease and Risk Alleles in ABCG8 and ABO
- (2013) Günther Silbernagel et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Juvenile Cataract Morphology in 3 Siblings Not Yet Diagnosed with Cerebrotendinous Xanthomatosis
- (2013) Arif O. Khan et al. OPHTHALMOLOGY
- Psychiatric manifestations in cerebrotendinous xanthomatosis
- (2013) M J Fraidakis Translational Psychiatry
- Identification and biochemical analysis of a novelAPOBmutation that causes autosomal dominant hypercholesterolemia
- (2013) Ellen R. A. Thomas et al. Molecular Genetics & Genomic Medicine
- Serum lipids, plant sterols, and cholesterol kinetic responses to plant sterol supplementation in phytosterolemia heterozygotes and control individuals
- (2012) Semone B Myrie et al. AMERICAN JOURNAL OF CLINICAL NUTRITION
- Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment
- (2012) Ebele Usifo et al. ANNALS OF HUMAN GENETICS
- Feedback Regulation of Cholesterol Uptake by the LXR–IDOL–LDLR Axis
- (2012) Li Zhang et al. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
- Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients
- (2012) Afef Slimani et al. ATHEROSCLEROSIS
- The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype–phenotype correlations
- (2012) Lukáš Tichý et al. ATHEROSCLEROSIS
- Long-Term Bone Density Evaluation in Cerebrotendinous Xanthomatosis: Evidence of Improvement after Chenodeoxycholic Acid Treatment
- (2012) Giuseppe Martini et al. CALCIFIED TISSUE INTERNATIONAL
- Low Prevalence of Mutations in Known Loci for Autosomal Dominant Hypercholesterolemia in a Multiethnic Patient Cohort
- (2012) Zahid Ahmad et al. Circulation-Cardiovascular Genetics
- A new method for the measurement of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2
- (2012) John Hamilton et al. CLINICA CHIMICA ACTA
- Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia
- (2012) Mohammad Mahdi Motazacker et al. EUROPEAN HEART JOURNAL
- Points to consider in the clinical application of genomic sequencing
- (2012) GENETICS IN MEDICINE
- Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with theAPOEp.Leu167del Mutation
- (2012) Marie Marduel et al. HUMAN MUTATION
- Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS
- (2012) Frank P. Diekstra et al. PLoS One
- Cerebrotendinous Xanthomatosis: A Treatable Disease With Juvenile Cataracts as a Presenting Sign
- (2011) Dinelli M. Monson ARCHIVES OF OPHTHALMOLOGY
- Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: Importance of genetic testing in the entire family
- (2011) Ana-Barbara Garcia-Garcia et al. ATHEROSCLEROSIS
- Clinical aspects of PCSK9
- (2011) Bertrand Cariou et al. ATHEROSCLEROSIS
- A novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene
- (2011) Hayato Tada et al. ATHEROSCLEROSIS
- Molecular characterization of familial hypercholesterolemia in Spain
- (2011) Lourdes Palacios et al. ATHEROSCLEROSIS
- Monitoring of 7α-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report
- (2011) Silke Matysik et al. CHEMISTRY AND PHYSICS OF LIPIDS
- Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece
- (2011) Maria Diakou et al. European Journal of Internal Medicine
- Functional analysis of LDLR promoter and 5′ UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia
- (2011) Isabel De Castro-Orós et al. HUMAN MUTATION
- The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans
- (2011) Daphna Weissglas-Volkov et al. JOURNAL OF CLINICAL INVESTIGATION
- Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
- (2011) Paul N. Hopkins et al. Journal of Clinical Lipidology
- Familial Hypercholesterolemia: The Lipids or the Genes?
- (2011) Akl C Fahed et al. Nutrition & Metabolism
- The General Public’s Understanding and Perception of Direct-to-Consumer Genetic Test Results
- (2011) J.W. Leighton et al. Public Health Genomics
- Update of the Portuguese Familial Hypercholesterolaemia Study
- (2010) A.M. Medeiros et al. ATHEROSCLEROSIS
- Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan
- (2010) Hiroshi Mabuchi et al. ATHEROSCLEROSIS
- Genetic Regulation of Serum Phytosterol Levels and Risk of Coronary Artery Disease
- (2010) Daniel Teupser et al. Circulation-Cardiovascular Genetics
- A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1
- (2010) Alice Marques-Pinheiro et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
- (2010) Marie Marduel et al. HUMAN MUTATION
- Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children
- (2010) Dau-Ming Niu et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Homozygous familial hypercholesterolemia in Lebanon: A genotype/phenotype correlation
- (2010) Akl C. Fahed et al. MOLECULAR GENETICS AND METABOLISM
- A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100
- (2010) A. Taylor et al. ANNALS OF CLINICAL BIOCHEMISTRY
- Family letters are an effective way to inform relatives about inherited cardiac disease
- (2009) Wilma P. van der Roest et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia
- (2009) Fabiana Filigheddu et al. ATHEROSCLEROSIS
- The effects of sterol structure upon sterol esterification
- (2009) Don S. Lin et al. ATHEROSCLEROSIS
- The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation
- (2009) Tohru Noguchi et al. ATHEROSCLEROSIS
- ESI-MS/MS quantification of 7α-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis
- (2009) Andrea E. DeBarber et al. CLINICA CHIMICA ACTA
- The Type of LDLR Gene Mutation Predicts Cardiovascular Risk in Children with Familial Hypercholesterolemia
- (2009) Ornella Guardamagna et al. JOURNAL OF PEDIATRICS
- LXR Regulates Cholesterol Uptake Through Idol-Dependent Ubiquitination of the LDL Receptor
- (2009) Noam Zelcer et al. SCIENCE
- Update and Analysis of the University College London Low Density Lipoprotein Receptor Familial Hypercholesterolemia Database
- (2008) S. E. A. Leigh et al. ANNALS OF HUMAN GENETICS
- Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors
- (2008) R. Alonso et al. ATHEROSCLEROSIS
- Long-term efficacy and safety of ezetimibe 10 mg in patients with homozygous sitosterolemia: a 2-year, open-label extension study
- (2008) D. Lütjohann et al. INTERNATIONAL JOURNAL OF CLINICAL PRACTICE
- Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8
- (2008) Weiqing Tang et al. JOURNAL OF LIPID RESEARCH
- Functional analysis of sites within PCSK9 responsible for hypercholesterolemia
- (2008) Shilpa Pandit et al. JOURNAL OF LIPID RESEARCH
- Chronic Diarrhea and Juvenile Cataracts: Think Cerebrotendinous Xanthomatosis and Treat
- (2008) V. M. Berginer et al. PEDIATRICS
- Diagnosis of Familial Hypercholesterolemia in General Practice Using Clinical Diagnostic Criteria or Genetic Testing as Part of Cascade Genetic Screening
- (2008) Trond P. Leren et al. Public Health Genomics
- 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 South European population
- (2008) Ismael Ejarque et al. Translational Research
- Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum
- (2007) Amit R. Rahalkar et al. MOLECULAR GENETICS AND METABOLISM
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