|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Hyperlipoproteinemia Type I
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
A familial type I hyperlipoproteinaemia is described in three members of a family of eleven; on the basis of LPL activity and HDL content of plasma three other members of the family have been diagnosed to be heterozygotes without other disturbances in their lipid spectrum.
|
192498 |
1977 |
|
Hyperlipoproteinemia Type I
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Two distinct first-order rates of inactivation were obtained and the derived constants used to calculate the lipoprotein lipase and hepatic lipase contributions to the total post-heparin triglyceride hydrolase activity in normal controls and in patients with familial hyperchylomicronaemia.
|
923094 |
1977 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Human lipoprotein lipase. Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241.
|
1371284 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.
|
1400331 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.
|
1479292 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The molecular defects in lipoprotein lipase deficient patients.
|
1505655 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lipoprotein lipase (LPL) gene, leading to partial or total inactivation of the enzyme, result in a hereditary clinical syndrome called familial LPL deficiency.
|
1511985 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Worldwide, more than 20 mutations in the LPL gene have been identified in patients with familial LPL deficiency.
|
1518507 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity.
|
1521525 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Familial hyperchylomicronemia due to the lipoprotein lipase (LPL) activity deficiency (Type I hyperlipoproteinemia) is an autosomal recessive disorder with a prevalence estimated at one case per million.
|
1524414 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A newly identified null allelic mutation in the human lipoprotein lipase (LPL) gene of a compound heterozygote with familial LPL deficiency.
|
1562620 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have previously described a missense mutation (M-188) in the lipoprotein lipase (LPL) gene which was present in FLD patients belonging to different ancestries, including a number of French Canadians (Monsalve MV et al.J Clin Invest 1990: 86: 728-734).
|
1576758 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.
|
1598907 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.
|
1598907 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.
|
1619366 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We have previously reported two common lipoprotein lipase (LPL) gene mutations underlying LPL deficiency in the majority of 37 French Canadians (Monsalve et al., 1990.J. Clin.Invest.86: 728-734; Ma et al., 1991.N. Engl.J. Med.324: 1761-1766).
|
1639392 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have previously reported two common lipoprotein lipase (LPL) gene mutations underlying LPL deficiency in the majority of 37 French Canadians (Monsalve et al., 1990.J. Clin.Invest.86: 728-734; Ma et al., 1991.N. Engl.J. Med.324: 1761-1766).
|
1639392 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.
|
1674945 |
1991 |
|
Hyperlipoproteinemia Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.
|
1674945 |
1991 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
|
1702428 |
1991 |
|
Hyperlipoproteinemia Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
|
1702428 |
1991 |
|
Hyperlipoproteinemia Type I
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We conclude that the Ile194 to Thr194 and Arg243 to His243 substitutions occur in lipoprotein lipase regions essential for normal enzyme activity and each mutation results in the expression of a nonfunctional enzyme leading to the hyperchylomicronemia syndrome manifested in the proband.
|
1702428 |
1991 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis.
|
1730727 |
1992 |