Genetic heterogeneity in familial dysbetalipoproteinemia. The E2(lys146—-gln) variant results in a dominant mode of inheritance.

Autor: M Smit, P de Knijff, E van der Kooij-Meijs, C Groenendijk, AM van den Maagdenberg, JA Gevers Leuven, AF Stalenhoef, PM Stuyt, RR Frants, LM Havekes

Publikováno v: Journal of Lipid Research, Vol 31, Iss 1, Pp 45-53 (1990)

As determined by isoelectric focusing, most patients with familial dysbetalipoproteinemia (FD) exhibit the homozygous apolipoprotein (apo) E2E2 phenotype. Only rarely does FD develop in the more common heterozygous phenotypes E3E2 or E4E2. In fact, o

Externí odkaz: https://doaj.org/article/f9489dbda100486a85cd88f2a218192b

The gene for apolipoprotein C-II is closely linked to the gene for apolipo-protein E on chromosome 19

Autor: Stephen E Humphries, Berg K, Gill L, Am, Cumming, Fw, Robertson, Af, Stalenhoef, Williamson R, Al, Børresen

Publikováno v: Europe PubMed Central

We have used a common TaqI restriction fragment length polymorphism (RFLP) near the human apolipoprotein C-II (apoC-II) gene to study linkage with apolipoprotein E (apoE). The inheritance of the apoC-II RFLP was followed in seven families that were s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a5e26675bb08c7f4a6934483f9f98498
https://pubmed.ncbi.nlm.nih.gov/6094053

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.

Autor: Wiegman A; Department of Paediatrics, Academic Medical Center, University of Amsterdam, The Netherlands a.wiegman@amc.uva.nl., Gidding SS; Nemours Cardiac Center, A. I. DuPont Hospital for Children, Wilmington, DE, USA., Watts GF; School of Medicine and Pharmacology, Royal Perth Hospital Unit, The University of Western Australia, Western Australia, Australia., Chapman MJ; Pierre and Marie Curie University, Paris, France National Institute for Health and Medical Research (INSERM), Pitié-Salpêtrière University Hospital, Paris, France., Ginsberg HN; Columbia University College of Physicians and Surgeons, New York, NY, USA Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York, USA., Cuchel M; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Ose L; Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway Lipid Clinic, Oslo University Hospital, Oslo, Norway., Averna M; Department of Internal Medicine, University of Palermo, Italy., Boileau C; Diderot Medical School, University Paris 7, Paris, France Genetics Department, Bichat University Hospital, Paris, France INSERM U698, Paris, France., Borén J; Department of Medicine, Sahlgrenska Academy, Göteborg University, Gothenburg, Sweden Wallenberg Laboratory for Cardiovascular Research, Gothenburg, Sweden., Bruckert E; Department of Endocrinology and Prevention of Cardiovascular Disease, University Hospital Pitié-Salpêtrière, Paris, France., Catapano AL; Department of Pharmacology, Faculty of Pharmacy, University of Milano, Milan, Italy Multimedica IRCSS, Milan, Italy., Defesche JC; Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands., Descamps OS; Centre Hospitalier Jolimont-Lobbes, Nivelles-Tubize, Belgium., Hegele RA; Robarts Research Institute, University of Western Ontario, London, ON, Canada., Hovingh GK; Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands., Humphries SE; Centre for Cardiovascular Genetics, University College London, Institute of Cardiovascular Sciences, London, UK., Kovanen PT; Wihuri Research Institute, Helsinki, Finland., Kuivenhoven JA; Department of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Masana L; Vascular Medicine and Metabolic Unit, Department of Medicine and Surgery, University Rovira and Virgili, Reus-Tarragona, Spain., Nordestgaard BG; Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Pajukanta P; Department of Human Genetics, Center for Metabolic Disease Prevention, University of California, Los Angeles, USA., Parhofer KG; Department of Endocrinology and Metabolism, University of Munich, Munich, Germany., Raal FJ; Carbohydrate & Lipid Metabolism Research Unit; and Division of Endocrinology & Metabolism, University of the Witwatersrand, Johannesburg, South Africa., Ray KK; Department of Primary Care and Public Health, School of Public Health, Imperial College, London, UK., Santos RD; Lipid Clinic of the Heart Institute (InCor), University of São Paulo, São Paulo, Brazil Department of Cardiology, University of São Paulo Medical School, São Paulo, Brazil., Stalenhoef AF; Department of Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Steinhagen-Thiessen E; Evangelisches Geriatriezentrum Berlin gGmbH (EGZB), Berlin, Germany Charité - Universitätsmedizin, Berlin, Germany., Stroes ES; Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands., Taskinen MR; Research Programs Unit, Diabetes & Obesity, University of Helsinki and Heart & Lung Centre, Helsinki University Hospital, Helsinki, Finland., Tybjærg-Hansen A; Department of Clinical Biochemistry, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Wiklund O; Department of Experimental and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden.

Publikováno v: European heart journal [Eur Heart J] 2015 Sep 21; Vol. 36 (36), pp. 2425-37. Date of Electronic Publication: 2015 May 25.

[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].

Autor: Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, Kuivenhoven JA, Nordestgaard BG, Descamps OS, Steinhagen-Thiessen E, Tybjaerg-Hansen A, Watts GF, Averna M, Boileau C, Borén J, Catapano AL, Defesche JC, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Ray KK, Stalenhoef AF, Stroes E, Taskinen MR, Wiegman A, Wiklund O, Chapman MJ

Publikováno v: Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir [Turk Kardiyol Dern Ars] 2015 Mar; Vol. 43 Suppl 1, pp. 1-14.

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.

Autor: Cuchel M; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA mcuchel@mail.med.upenn.edu., Bruckert E; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Ginsberg HN; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Raal FJ; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Santos RD; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Hegele RA; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Kuivenhoven JA; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Nordestgaard BG; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Descamps OS; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Steinhagen-Thiessen E; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Tybjærg-Hansen A; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Watts GF; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Averna M; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Boileau C; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Borén J; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Catapano AL; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Defesche JC; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Hovingh GK; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Humphries SE; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Kovanen PT; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Masana L; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Pajukanta P; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Parhofer KG; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Ray KK; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Stalenhoef AF; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Stroes E; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Taskinen MR; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Wiegman A; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Wiklund O; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA., Chapman MJ; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, 8039 Maloney Building, 3600 Spruce Street, Philadelphia, PA 19104, USA.

Publikováno v: European heart journal [Eur Heart J] 2014 Aug 21; Vol. 35 (32), pp. 2146-57. Date of Electronic Publication: 2014 Jul 22.