منابع مشابه
Severe xanthomatosis associated with familial apolipoprotein E deficiency.
AIM To present the clinical, dermatological, and histological features of a patient with generalised xanthomatosis, familial apolipoprotein (apo) E deficiency, and unusual type III hyperlipoproteinaemia (HLP). METHODS The underlying molecular defect was disclosed using molecular biological techniques. The unusual xanthomas were histologically analysed and the morphology of the abnormal lipopr...
متن کاملmRNA and apolipoprotein E synthesis abnormalities in peripheral blood monocyte macrophages in familial apolipoprotein E deficiency.
We have studied synthesis of apolipoprotein E (apo-E) and apo-E mRNA in cultures of peripheral blood human monocyte macrophages (M-M cultures) obtained from a patient with familial apolipoprotein E deficiency. We have found that the M-M cultures of the apo-E-deficient patients contained two apo-E mRNA species with slightly different molecular weight as compared to normal apo-E mRNA. The apo-E m...
متن کاملApolipoprotein E and familial longevity.
Exceptional longevity is associated with substantial heritability. The ε4 allele in apolipoprotein E and the linked G allele in rs2075650 of TOMM40 have been associated with increased mortality and the ε2 allele with decreased mortality, although inconsistently. Offspring from long-lived families and spouse controls were recruited at 3 sites in the United States and Denmark. We used generalized...
متن کاملFamilial apolipoprotein E deficiency and type Ill hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene
A kindred with apolipoprotein E deficiency and a truncated lower molecular weight apoE mutant, designated a p 0 E 3 ~ ~ ~ ~ ~ ~ ~ ~ ~ ~ , has been identified. Gel electrophoresis demonstrated complete absence of the normal apoE isoproteins and the presence of a small quantity of a lower molecular weight apoE. Plasma apoE levels in the proband were approximately 4% of normal. This marked deficie...
متن کاملFamilial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.
A kindred with apolipoprotein E deficiency and a truncated lower molecular weight apoE mutant, designated apoE-3Washington, has been identified. Gel electrophoresis demonstrated complete absence of the normal apoE isoproteins and the presence of a small quantity of a lower molecular weight apoE. Plasma apoE levels in the proband were approximately 4% of normal. This marked deficiency of apoE re...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1986
ISSN: 0021-9738
DOI: 10.1172/jci112704