Zobrazeno 1 - 10
of 33
pro vyhledávání: '"T. P. Leren"'
Publikováno v:
Journal of Lipid Research, Vol 38, Iss 1, Pp 121-131 (1997)
We studied a Norwegian patient and his family, who presented with low HDL-cholesterol. DNA sequence analysis of the apoA-I gene revealed heterozygosity for a mutation in the apoA-I gene that causes a leucine for arginine replacement at residue 160. C
Externí odkaz:
https://doaj.org/article/21d351f8e7fd480c9d5d730d9ed5e610
Autor:
E. Kongsgård, Nina Øyen, Gottfried Greve, O.‐G. Anfinsen, T. P. Leren, K. E. Berge, Kristina H. Haugaa, Knut Gjesdal, A. Früh, A. Carlsson, Geir Siem, Torleiv O. Rognum, J. P. Amlie, M. Hallerud
Publikováno v:
Scandinavian Journal of Clinical and Laboratory Investigation. 68:362-368
Mutations in the KCNQ1, HERG, SCN5A, minK and MiRP1 genes cause long QT syndrome (LQTS), of which there are two forms: the Romano Ward syndrome and the Jervell and Lange-Nielsen syndrome. We have performed DNA sequencing of the LQTS-associated genes
Autor:
K E, Berge, T P, Leren
Publikováno v:
Clinical genetics. 86(4)
Genetic testing for hypertrophic cardiomyopathy (HCM) became available in Norway in 2003. Here, we describe the results of this testing in probands with HCM referred until the end of 2012. The translated exons of MYBPC3, MYH7, TNNI3, TNNT2, MYL2 and
Publikováno v:
Genome Research. 3:159-162
We have performed analyses of single-strand conformation polymorphisms (SSCP) of the promoter region and the translated parts of the 18 exons of the low-density lipoprotein receptor (LDLR) gene. DNA from 20 unrelated familial hypercholesterolemia (FH
Publikováno v:
Journal of Biological Chemistry. 265:9496-9504
An enhancer element in the 5' flanking region of the human apolipoprotein E gene, known as upstream regulatory element 1 (URE1), has previously been implicated in the expression of this gene. The URE1 element, which spans nucleotides -193 to -124 of
Autor:
T P, Leren
Publikováno v:
Clinical genetics. 66(6)
Familial hypercholesterolemia (FH) is caused by a mutation in the low-density lipoprotein receptor gene and is characterized by hypercholesterolemia, xanthomas, and premature coronary heart disease. Heterozygotes typically have values for total serum
Autor:
T P, Leren
Publikováno v:
Clinical genetics. 65(5)
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gene have previously been fou
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 89(12)
Maternal hypercholesterolaemia has recently been shown to increase the number of fatty streaks in the foetal aorta, as well as subsequent progression of fatty streaks to more advanced lesions. We compared carotid intima-media thickness by B-mode ultr
Publikováno v:
Human mutation. 13(3)
mRNA of the low-density lipoprotein receptor (LDLR) gene from 22 heterozygous familial hypercholesterolemic subjects possessing different mutations in this gene was analyzed by Northern blot analysis and reverse transcription-polymerase chain reactio
Publikováno v:
Journal of lipid research. 40(2)
Screening for structural alterations of the low density lipoprotein (LDL) receptor gene by Southern blot analysis revealed an abnormal band pattern in one subject with a clinical diagnosis of homozygous familial hypercholesterolemia (FH). The molecul