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1	Sequence variation in the LDL receptor gene, and its effect on plasma lipid levels Gudnason, Vilmundur Gardar January 1995 (has links) No description available. 572.8
2	Identification and characterisation of a novel intracellular protein that binds the low density lipoprotein (LDL) receptor Burden, Joanne Jemima Ellen January 2002 (has links) No description available. 572 Familial hypercholesterolaemia
3	Reoferetické a aferetické postupy pro odstranění cholesterolu a jejich dopad na imunitní systém / Cholesterol depletion using reopheretic and apheretic processes and impact of these methods on immune system Svrčková, Ellen January 2010 (has links) LDL-apheresis and haemorheopheresis are the most frequent methods of extracorporeal ellimination methods used for lowering the LDL cholesterol in patients with familial hypercholesterolaemia (FH). In case of failure of conservative therapy (represented by pharmacotherapy and/or dietary regime) these methods reprensent the effective and accessible solution for the clinical status characterized by high morbidity and mortality as well. The lipid components are the most frequent observed markers for the effeciveness of intervention. However, immunity with its effector molecules plays also essential role and there is suppose, that could also reflect the state and progress of atherosclerosis in FH patients. The aim of this thesis was to evaluate the levels of selected immunological markers (plasmatic glykoprotein α-2-macroglobulin, IL-10, soluble endoglin, soluble apoptotic factor sAPO-Fas and soluble form of adhesive P-selectin) and their changes after LDL-apheresis and haemorheopheresis employing enzyme immunoanalysis and immuno nephelometry. Totally, 12 patients were involved in this study, 3 were treated by haemorheopheresis, the rest 9 received LDL-apheresis. As a results, significant decreases in serum levels of α-2- macroglobulin, soluble endoglin and sAPO-1/Fas were recorded. Observed changes of...
4	Génération de progéniteurs hépatiques dérivés de cellules souches : application à l’hypercholestérolémie familiale / Generation of stem cell-derived hepatic progenitors : application to familial hypercholesterolaemia Corbineau, Sébastien 05 October 2011 (has links) La transplantation d’hépatocytes représente une alternative à la transplantation hépatique pour le traitement de certaines maladies métaboliques dont l’hypercholestérolémie familiale. Les cellules souches embryonnaires (ES) et les cellules souches pluripotentes induites (iPS) humaines représentent de nouvelles sources de cellules hépatiques. Nous avons mis au point une approche de différenciation des cellules souches humaines en cellules hépatiques et généré ainsi des cellules dérivées de cellules iPS de patients atteints d’hypercholestérolémie familiale. / Hepatocyte transplantation represents an alternative to liver for the treatment of metabolic diseases including familial hypercholesterolaemia. Embryonic stem cells (ES) and induced pluripotent stem cells (iPS) represent new sources of hepatic cells. We have developed an approach to differentiate human stem cells into hepatic cells and thus we have generated hepatic cells derived from iPS of familial hypercholesterolaemia patients. Cellules souches pluripotentes induites Primate non humain Hypercholestérolémie familiale Humain Récepteur aux low density lipoproteins Criblage thérapeutique Thérapie génique ex vivo Liver Hepatocytes Embryonic stem cells Induced pluripotent stem cells Developement Differentiation Human/ primate Familial hypercholesterolaemia Low density lipoproteins receptor Therapeutic screening Ex vivo gene therapy

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