J C Defesche

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. ncbi request reprint Low-density lipoprotein receptor--its structure, function, and mutations
    Joep C Defesche
    Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, The Netherlands
    Semin Vasc Med 4:5-11. 2004
  2. doi request reprint Defining the challenges of FH screening for familial hypercholesterolemia
    Joep C Defesche
    Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105, AZ, The Netherlands
    J Clin Lipidol 4:338-41. 2010
  3. doi request reprint Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing
    J C Defesche
    Department of Vascular Medicine, Academic Medical Centre at the University of Amsterdam, Amsterdam, The Netherlands
    Clin Genet 73:573-8. 2008
  4. ncbi request reprint Advanced method for the identification of patients with inherited hypercholesterolemia
    Joep C Defesche
    Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, The Netherlands
    Semin Vasc Med 4:59-65. 2004
  5. ncbi request reprint Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands
    M P Lombardi
    Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands
    Clin Genet 57:116-24. 2000
  6. doi request reprint Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase
    A G Holleboom
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
    Atherosclerosis 216:161-5. 2011
  7. ncbi request reprint Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia
    P R W de Sauvage Nolting
    Department of Vascular Medicine, Academic Medical Center Amsterdam, G1 114, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    J Intern Med 253:161-8. 2003
  8. ncbi request reprint The molecular basis of familial hypercholesterolemia in The Netherlands
    S W Fouchier
    Department of Vascular Medicine G1 112b, Academic Medical Center at the University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Hum Genet 109:602-15. 2001
  9. ncbi request reprint Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands
    M A Umans-Eckenhausen
    Foundation for the Identification of Persons with Inherited Hypercholesterolaemia, Amsterdam, The Netherlands
    Lancet 357:165-8. 2001
  10. ncbi request reprint The apolipoprotein epsilon4 allele confers additional risk in children with familial hypercholesterolemia
    Albert Wiegman
    Emma Children s Hospital Academic Medical Center, University of Amsterdam, The Netherlands
    Pediatr Res 53:1008-12. 2003

Collaborators

Detail Information

Publications33

  1. ncbi request reprint Low-density lipoprotein receptor--its structure, function, and mutations
    Joep C Defesche
    Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, The Netherlands
    Semin Vasc Med 4:5-11. 2004
    ..Thus, mutations in the LDL-receptor gene give rise to a substantially varying clinical expression of familial hypercholesterolemia...
  2. doi request reprint Defining the challenges of FH screening for familial hypercholesterolemia
    Joep C Defesche
    Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105, AZ, The Netherlands
    J Clin Lipidol 4:338-41. 2010
    ..Since the initiation of population screening for FH in 1994 in the Netherlands, a vast amount of experience has been gathered, addressing almost all issues that are encountered in population screening...
  3. doi request reprint Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing
    J C Defesche
    Department of Vascular Medicine, Academic Medical Centre at the University of Amsterdam, Amsterdam, The Netherlands
    Clin Genet 73:573-8. 2008
    ..Splicing of these alternate splice sites leads to an in-frame 75-base pair deletion in a stable mRNA of exon 4 in case of G186G and R385R resulted in a 31-base pair frame-shift deletion in exon 9 and non-sense-mediated mRNA decay...
  4. ncbi request reprint Advanced method for the identification of patients with inherited hypercholesterolemia
    Joep C Defesche
    Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, The Netherlands
    Semin Vasc Med 4:59-65. 2004
    ..Here we describe an effective model to identify and bring under treatment large numbers of individuals affected by FH...
  5. ncbi request reprint Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands
    M P Lombardi
    Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands
    Clin Genet 57:116-24. 2000
    ....
  6. doi request reprint Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase
    A G Holleboom
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
    Atherosclerosis 216:161-5. 2011
    ....
  7. ncbi request reprint Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia
    P R W de Sauvage Nolting
    Department of Vascular Medicine, Academic Medical Center Amsterdam, G1 114, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    J Intern Med 253:161-8. 2003
    ..Patients with familial hypercholesterolaemia (FH) vary widely in terms of onset of cardiovascular disease (CVD)...
  8. ncbi request reprint The molecular basis of familial hypercholesterolemia in The Netherlands
    S W Fouchier
    Department of Vascular Medicine G1 112b, Academic Medical Center at the University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Hum Genet 109:602-15. 2001
    ....
  9. ncbi request reprint Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands
    M A Umans-Eckenhausen
    Foundation for the Identification of Persons with Inherited Hypercholesterolaemia, Amsterdam, The Netherlands
    Lancet 357:165-8. 2001
    ..Our findings could have wider relevance for the screening of other prevalent genetic disorders in the population at large...
  10. ncbi request reprint The apolipoprotein epsilon4 allele confers additional risk in children with familial hypercholesterolemia
    Albert Wiegman
    Emma Children s Hospital Academic Medical Center, University of Amsterdam, The Netherlands
    Pediatr Res 53:1008-12. 2003
    ..Moreover, the strong association suggests that apoE4 carries an additional disadvantage for FH children...
  11. ncbi request reprint Diagnosing familial hypercholesterolaemia: the relevance of genetic testing
    Emily S van Aalst-Cohen
    Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Eur Heart J 27:2240-6. 2006
    ..We therefore set out to determine in these patients whether patients with a DNA diagnosis would differ significantly from those diagnosed clinically...
  12. ncbi request reprint A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemia
    Kristel C M C Koeijvoets
    Department of Internal Medicine, D435, Erasmus Medical Center, P O Box 2040, 3000 AC Rotterdam, The Netherlands
    J Clin Endocrinol Metab 91:4131-6. 2006
    ..Evidence suggests that carriers have a more favorable cardiovascular risk profile, but the relationship between this ER22/23EK variant and cardiovascular disease has not been hitherto assessed...
  13. ncbi request reprint Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations
    Melchior C Nierman
    Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:686. 2006
    ..Finally, we show that two patients homozygous for the LPL gene delCT1312-1313 mutations are characterized by absence of LPL activity that coincides with absence of LPL protein...
  14. ncbi request reprint Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia
    Olga W Souverein
    Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Eur Heart J 28:299-304. 2007
    ..To investigate the influence of different LDL-receptor (LDLR) gene mutations on age at first cardiovascular event in familial hypercholesterolaemia (FH) patients...
  15. doi request reprint Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene
    Jolanta Kubalska
    Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warszawa, Poland
    J Appl Genet 49:109-13. 2008
    ..Multicenter analysis of such persons would finally determine if the early lipid-lowering procedures can significantly reduce the risk of premature cardiovascular disease in homozygous FH...
  16. doi request reprint Familial hypercholesterolemia: current treatment and advances in management
    Roeland Huijgen
    Academic Medical Center, Department of Vascular Medicine, Meibergreef 9 Room F4 146, 1105 AZ, Amsterdam, The Netherlands
    Expert Rev Cardiovasc Ther 6:567-81. 2008
    ..In this review the various treatment options are discussed...
  17. doi request reprint Gene-load score of the renin-angiotensin-aldosterone system is associated with coronary heart disease in familial hypercholesterolaemia
    Jeroen B van der Net
    Department of Internal Medicine D435, Erasmus MC, University Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Eur Heart J 29:1370-6. 2008
    ..We investigated the association between CHD risk and combined genetic variation in the RAAS and adrenalin/noradrenalin system...
  18. pmc Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia
    Jeroen B van der Net
    Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
    Eur Heart J 29:2195-201. 2008
    ..We performed a replication study of 10 polymorphisms and CHD in a population with familial hypercholesterolemia (FH), individuals at extreme risk of CHD...
  19. ncbi request reprint The effects of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma2 gene on glucose/insulin metabolism interact with prenatal exposure to famine
    Susanne R de Rooij
    Academic Medical Centre, Department of Clinical Epidemiology and Biostatistics, Room nr J1B 210 1, Meibergdreef 9, P O Box 22660, 1100 DD, Amsterdam, Netherlands
    Diabetes Care 29:1052-7. 2006
    ..In the present study, we assessed a possible interaction of the peroxisome proliferator-activated receptor (PPAR)-gamma2 Pro12Ala polymorphism with prenatal exposure to famine on glucose and insulin metabolism...
  20. ncbi request reprint Update of the molecular basis of familial hypercholesterolemia in The Netherlands
    Sigrid W Fouchier
    Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 26:550-6. 2005
    ....
  21. ncbi request reprint Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia
    Laura van de Kerkhof
    Department of Vascular Medicine of the Academic Medical Center at the University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Genet Test 7:77-9. 2003
    ..S305C was inherited from the proband's mother, who was of Italian descent. The occurrence of LDL receptor gene mutations of Lebanese and Italian origin in Brazil underlines the genetic heterogeneity of the Brazilian population...
  22. ncbi request reprint Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population
    Marina A W Umans-Eckenhausen
    Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, Amsterdam, The Netherlands
    Circulation 106:3031-6. 2002
    ..Multivariate analyses with adjustment for age, sex, and specific family ties were performed...
  23. ncbi request reprint Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands
    David Wonderling
    Cancer and Public Health Unit and Health Services Research Unit, London School of Hygiene and Tropical Medicine, London, United Kingdom
    Semin Vasc Med 4:97-104. 2004
    ..Cost per life-year gained was US dollars 8700. Therefore, systematic genetic screening of family members of persons diagnosed with FH is cost-effective in The Netherlands and should be considered for other settings...
  24. ncbi request reprint Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia
    Angelique C M Jansen
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
    Arterioscler Thromb Vasc Biol 25:1475-81. 2005
    ..To investigate the contribution of polymorphisms in multiple candidate genes to cardiovascular disease (CVD) risk in a large cohort of patients with heterozygous familial hypercholesterolemia (FH)...
  25. ncbi request reprint Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk
    Sigrid W Fouchier
    Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, 1100 DD Amsterdam, The Netherlands
    Semin Vasc Med 4:259-64. 2004
    ..However, FDB patients are still exposed to a substantially higher CAD risk compared with unaffected relatives...
  26. ncbi request reprint Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production
    John S Millar
    Department of Medicine, University of Pennsylvania, 644 BRB II III, 421 Curie Blvd, Philadelphia, PA 19104, USA
    Arterioscler Thromb Vasc Biol 25:560-5. 2005
    ..We addressed the role of the low-density lipoprotein (LDL) receptor in determining clearance rates and production rate (PR) of apolipoprotein B (apoB) in humans...
  27. ncbi request reprint Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study
    Kristel C M C Koeijvoets
    Department of Internal Medicine, Erasmus Medical Centre D435, P O Box 2040, 3000 AC Rotterdam, The Netherlands
    Atherosclerosis 180:93-9. 2005
    ..Nonetheless, a specific LDL receptor mutation was associated with less deteriorated lipoprotein levels and a milder CVD risk...
  28. ncbi request reprint Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia
    Emily S van Aalst-Cohen
    Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
    Eur J Hum Genet 13:1137-42. 2005
    ....
  29. doi request reprint Haplotype of the angiotensinogen gene is associated with coronary heart disease in familial hypercholesterolemia
    Jeroen B van der Net
    Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands
    J Hypertens 26:462-7. 2008
    ..Therefore, we analyzed the angiotensinogen gene as a modifier gene for coronary heart disease risk in patients with familial hypercholesterolemia...
  30. ncbi request reprint Phenotypic variability in familial hypercholesterolaemia: an update
    Angelique C M Jansen
    Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Curr Opin Lipidol 13:165-71. 2002
    ..The present review discusses recent developments in this field...
  31. ncbi request reprint Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia
    Marina A W Umans-Eckenhausen
    Foundation for the Identification of Persons With Inherited Hypercholesterolemia and Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Arch Intern Med 163:65-8. 2003
    ..A screening program for familial hypercholesterolemia is ongoing in the Netherlands since 1994. To assess the extent of treatment and therapy compliance, patients were followed up for 2 years after the diagnosis was established...
  32. ncbi request reprint Family history and cardiovascular risk in familial hypercholesterolemia: data in more than 1000 children
    Albert Wiegman
    Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Circulation 107:1473-8. 2003
    ..Elevated LDL cholesterol (LDL-C) levels in childhood predict cardiovascular disease (CVD) later in life. Familial hypercholesterolemia (FH) represents the paradigm of this relation...
  33. doi request reprint High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations
    Khemanganee E Liyanage
    School of Surgery and Pathology, University of Western Australia, Perth, Australia
    Ann Clin Biochem 45:170-6. 2008
    ..FDB cannot be clinically distinguished from heterozygous LDL-receptor-defective familial hypercholesterolaemia (FH) without genetic testing...