- Genetic heterogeneity of autosomal dominant hypercholesterolemiaM Varret
INSERM U781, Hopital Necker Enfants Malades, Universite Paris 5 Rene Descartes, Paris, France
Clin Genet 73:1-13. 2008..Altogether, numerous reports give evidence for the existence of a greater level of genetic heterogeneity in ADH and the involvement of still unknown genes...
- [After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9]M Abifadel
INSERM, U781, Paris, France
Ann Endocrinol (Paris) 68:138-46. 2007..PCSK9 inhibitors might constitute new therapeutic targets that would decrease plasma LDL cholesterol levels and be synergistic with statin drugs...
- A PCSK9 variant and familial combined hyperlipidaemiaM Abifadel
INSERM U781, Clinique Maurice Lamy, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
J Med Genet 45:780-6. 2008..PCSK9 gain of function mutations cause hypercholesterolaemia by a reduction of LDL receptor levels, while PCSK9 loss of function variants are associated with a reduction of LDL-C values and a decreased risk of coronary heart disease...
- A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32M Varret
Hopital Necker Enfants Malades, Institut National de la Sante et de la Recherche Medicale, Unit 383, Universite Rene Descartes, 75743 Paris Cedex 15, France
Am J Hum Genet 64:1378-87. 1999..Radiation hybrid mapping located four candidate genes at 1p34.1-p32, outside the critical region, showing no identity with FH3. Our results show that ADH is genetically more heterogeneous than conventionally accepted...
- Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French populationJ P Rabes
INSERM U383, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
Hum Mutat 10:160-3. 1997..Additionally, the first two R3531C mutations were identified in French probands. Genotypes were consistent with a previously reported haplotype, suggesting that this is another mutation of European ancestry...
- Software and database for the analysis of mutations in the human LDL receptor geneM Varret
INSERM U383, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris V, 149 161 Rue de Sèvres, 75743 Paris Cedex 15, France
Nucleic Acids Res 25:172-80. 1997..To facilitate the mutational analysis of the LDLR gene, and promote the analysis of the relationship between genotype and phenotype, a software package along with a computerized database (currently listing 210 entries) have been created...
- New insights into how adipocytes sense their triglyceride stores. Is cholesterol a signal?I Dugail
INSERM U 465, Institut Biomedical des Cordeliers, Paris, France
Horm Metab Res 35:204-10. 2003..This paper reviews new insights into this question taking cholesterol as a potential intracellular signaling molecule...
- Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in MoroccoR Chater
Laboratoire de Biochimie, Groupe de Génétique et Biologie Moléculaire, Faculte des Sciences Ain Chock, BP 5366 Maarif, Casablanca, Morocco
Clin Chim Acta 373:62-9. 2006..To gain more information in this field and to assess the contribution of these three genes in the cause of FH determinism, we analyzed six unrelated Moroccan probands and twenty-five of their family's members...
- A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic familyA Jelassi
Research Unit of Genetic and Biologic Factors of Atherosclerosis, Faculty of Medecine, Monastir, Tunisia
Clin Chim Acta 392:25-9. 2008..It is characterized by a high concentration of low-density lipoprotein (LDL), which frequently gives rise to premature coronary disease. In this study, we report a novel splice site mutation of the LDL receptor gene in a Tunisian family...