Apolipoprotein B Genetic Dificiences

No abstract is available for this paper.

• Publication year

  1989

• Venue

  Unknown venue

• Publication date

  Unknown publication date

• Fields of study

  Medicine, Chemistry

• Identifiers
  DOI 10.1007/978-1-4615-9549-6_13
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• Chylomicron retention disease

  2020cited by this paper
• The Metabolic basis of inherited disease

  1989cited by this paper
• Genetic evidence from two families that the apolipoprotein B gene is not involved in abetalipoproteinemia.

  1988cited by this paper
• Low plasma cholesterol levels caused by a short deletion in the apolipoprotein B gene.

  1988cited by this paper
• Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia.

  1988cited by this paper
• Homozygous hypobetalipoproteinemia: a disease distinct from abetalipoproproteinemia at the molecular level.

  1988cited by this paper
• The apolipoprotein multigene family: biosynthesis, structure, structure-function relationships, and evolution.

  1988cited by this paper
• Apolipoprotein genetic variation and human disease.

  1988cited by this paper
• Inference of a molecular defect of apolipoprotein B in hypobetalipoproteinemia by linkage analysis in a large kindred.

  1988cited by this paper
• Human apolipoprotein B (apoB) mRNA: identification of two distinct apoB mRNAs, an mRNA with the apoB-100 sequence and an apoB mRNA containing a premature in-frame translational stop codon, in both liver and intestine.

  1988cited by this paper
• Increased catabolism of VLDL-apolipoprotein B and synthesis of bile acids in a case of hypobetalipoproteinemia.

  1987cited by this paper
• Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon.

  1987cited by this paper
• Absence of intestinal synthesis of apolipoprotein B-48 in two cases of abetalipoproteinemia.

  1987cited by this paper
• Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease.

  1987cited by this paper
• Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with familial hypobetalipoproteinemia.

  1987cited by this paper
• Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease.

  1987cited by this paper
• A novel form of tissue-specific RNA processing produces apolipoprotein-B48 in intestine.

  1987cited by this paper
• Epitopes of apolipoprotein B-100 and B-48 in both liver and intestine. Expression and evidence for local synthesis in recessive abetalipoproteinemia.

  1986cited by this paper
• Lipoprotein Deficiency Syndromes

  1986cited by this paper
• Clinical, nutritional and biochemical consequences of apolipoprotein B deficiency.

  1986cited by this paper
• Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson's disease.

  1986cited by this paper
• Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency.

  1985cited by this paper
• Apolipoprotein B-100 deficiency. Intestinal steatosis despite apolipoprotein B-48 synthesis.

  1985cited by this paper
• Regulation of low density lipoprotein receptors by plasma lipoproteins from patients with abetalipoproteinemia.

  1983cited by this paper
• The role of lipoproteins in steroidogenesis and cholesterol metabolism in steroidogenic glands.

  1982cited by this paper
• Adrenal function in heterozygous and homozygous hypobetalipoproteinemia.

  1982cited by this paper
• Corticosteroid production in abetalipoproteinemia: evidence for an impaired response ACTH.

  1982cited by this paper
• Role of apolipoprotein E-containing lipoproteins in abetalipoproteinemia.

  1982cited by this paper
• Hormone changes during the menstrual cycle in abetalipoproteinemia: reduced luteal phase progesterone in a patient with homozygous hypobetalipoproteinemia.

  1982cited by this paper
• Normotriglyceridemic abetalipoproteinemia. absence of the B-100 apolipoprotein.

  1981cited by this paper
• Regulation of plasma cholesterol by lipoprotein receptors.

  1981cited by this paper
• Lipid metabolism in abetalipoproteinemia: a study of cholesterol absorption and sterol balance in two patients.

  1980cited by this paper
• Abetalipoproteinemia: Report of Two Cases and Review of Therapy

  1980cited by this paper
• Sterol balance in abetalipoproteinemia: studies in a patient with homozygous familial hypobetalipoproteinemia.

  1979cited by this paper
• Metabolic studies in an unusual case of asymptomatic familial hypobetalipoproteinemia with hypolphalipoproteinemia and fasting chylomicronemia.

  1979cited by this paper
• Immunofluorescence studies of apolipoprotein B in intestinal mucosa: Absence in abetalipoproteinemia

  1979cited by this paper
• Surface binding and catabolism of low-density lipoprotein by circulating lymphocytes from patients with abetalipoproteinaemia, with observations on sterol synthesis in lymphocytes from one patient.

  1978cited by this paper
• Sterol balance in a patient with abetalipoproteinaemia.

  1978cited by this paper
• Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes

  1977cited by this paper
• Use of mutant fibroblasts in the analysis of the regulation of cholesterol metabolism in human cells

  1975cited by this paper
• Familial homozygous hypobetalipoproteinemia.

  1974cited by this paper
• The Metabolic Basis of Inherited Diseases

  1972cited by this paper
• Protides of Biological Fluids

  1971cited by this paper
• Maladie d'Anderson.

  1970cited by this paper
• Familial hypo-β-lipoproteinemia: A genetic disorder of lipid metabolism with nervous system involvement

  1969cited by this paper
• Analysis of the Apolipoprotein B Gene and Messenger Ribonucleic Acid in Abetalipoproteinemia

  year unknowncited by this paper

• Liver fibrosis in a patient with familial homozygous hypobetalipoproteinaemia: possible role of vitamin supplementation.

  1992cites this paper