Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia.

Autor: JC Webb, XM Sun, DD Patel, SN McCarthy, BL Knight, AK Soutar

Publikováno v: Journal of Lipid Research, Vol 33, Iss 5, Pp 689-698 (1992)

Two new point mutations have been detected in the low density lipoprotein (LDL) receptor gene of a patient with a clinical diagnosis of homozygous familial hypercholesterolemia (FH). The patient is a compound heterozygote, in whom the mutant allele i

Externí odkaz: https://doaj.org/article/ef9425b330224a6dab3b7ef8bc7caffa

Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes.

Autor: Thompson GR; Imperial College London, London, UK. Electronic address: g.thompson@imperial.ac.uk., Seed M; Imperial College London, London, UK. Electronic address: drmaryseed@hotmail.com., Naoumova RP; Novartis Pharma AG, Basel, Switzerland. Electronic address: rossi.naoumova@hotmail.com., Neuwirth C; Imperial College London, London, UK. Electronic address: Clare.neuwirth2@imperial.nhs.uk., Walji S; Hammersmith Hospital, London, UK. Electronic address: Shahenaz.Walji@imperial.nhs.uk., Aitman TJ; University of Edinburgh, Edinburgh, UK. Electronic address: tim.aitman@ed.ac.uk., Scott J; Imperial College London, London, UK. Electronic address: james.scott@imperial.ac.uk., Myant NB; Medical Research Council, UK., Soutar AK; MRC Clinical Sciences Centre, London, UK. Electronic address: anne.soutar@csc.mrc.ac.uk.

Publikováno v: Atherosclerosis [Atherosclerosis] 2015 Nov; Vol. 243 (1), pp. 328-33. Date of Electronic Publication: 2015 Sep 28.

Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

Autor: Alves AC; Unidade de I&D, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças não Transmissíveis, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal., Etxebarria A, Soutar AK, Martin C, Bourbon M

Publikováno v: Human molecular genetics [Hum Mol Genet] 2014 Apr 01; Vol. 23 (7), pp. 1817-28. Date of Electronic Publication: 2013 Nov 13.

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Autor: Thomas ER; MRC Clinical Sciences Centre, Imperial College London London, W12 0NN, United Kingdom., Atanur SS; MRC Clinical Sciences Centre, Imperial College London London, W12 0NN, United Kingdom ; BHF Centre of Research Excellence, Imperial College London London, W12 0NN, United Kingdom., Norsworthy PJ; MRC Clinical Sciences Centre, Imperial College London London, W12 0NN, United Kingdom., Encheva V; MRC Clinical Sciences Centre, Imperial College London London, W12 0NN, United Kingdom., Snijders AP; MRC Clinical Sciences Centre, Imperial College London London, W12 0NN, United Kingdom., Game L; MRC Clinical Sciences Centre, Imperial College London London, W12 0NN, United Kingdom., Vandrovcova J; MRC Clinical Sciences Centre, Imperial College London London, W12 0NN, United Kingdom., Siddiq A; Department of Genomics of Common Disease, School of Public Health, Imperial College London London, W12 0NN, United Kingdom., Seed M; Charing Cross Hospital, Imperial College Healthcare NHS Trust London, W6 8RF, United Kingdom., Soutar AK; MRC Clinical Sciences Centre, Imperial College London London, W12 0NN, United Kingdom., Aitman TJ; MRC Clinical Sciences Centre, Imperial College London London, W12 0NN, United Kingdom.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2013 Sep; Vol. 1 (3), pp. 155-61. Date of Electronic Publication: 2013 Jun 13.

Premature senescence in cells from patients with autosomal recessive hypercholesterolemia (ARH): evidence for a role for ARH in mitosis.

Autor: Sun XM; Medical Research Council Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, United Kingdom., Patel DD, Acosta JC, Gil J, Soutar AK

Publikováno v: Arteriosclerosis, thrombosis, and vascular biology [Arterioscler Thromb Vasc Biol] 2011 Oct; Vol. 31 (10), pp. 2270-7. Date of Electronic Publication: 2011 Jul 21.