Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.
|
2196279 |
1990 |
Hyperproinsulinemia
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.
|
2196279 |
1990 |
Hyperproinsulinemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hyperproinsulinemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
We conclude that individuals from both cohorts with familial hyperproinsulinemia secret very similar or identical intermediates of proinsulin conversion in which the C-peptide remains attached to the insulin A chain and in which Arg65 has been replaced by another amino acid residue.
|
6368587 |
1984 |
Hyperproinsulinemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
These results show that FDR of NIDDM patients have true hyperinsulinemia (which is not a consequence of cross-reactivity with proinsulin) and hyperproinsulinemia and no dysfunction of a qualitative nature in beta-cells.
|
10347771 |
1999 |
Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.
|
4019786 |
1985 |
Hyperproinsulinemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Hyperproinsulinemia and proinsulin-to-insulin ratios in Swedish middle-aged men: association with glycemia and insulin resistance but not with family history of diabetes.
|
11978587 |
2002 |
Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study reports a two-generation European-Caucasian family with hyperproinsulinaemia due to a substitution of His for Arg at position 65 in proinsulin, the seventh now identified worldwide and the second from Europe.
|
9667398 |
1998 |
Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).
|
1601997 |
1992 |
Hyperproinsulinemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
These data indicate that familial hyperproinsulinemia proinsulin is normally cleaved at the C-peptide-A-chain linkage site.
|
288074 |
1979 |
Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.
|
4019786 |
1985 |
Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel point mutation in the human insulin gene giving rise to hyperproinsulinemia (proinsulin Kyoto).
|
1601997 |
1992 |
Hyperproinsulinemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Proinsulin radioimmunoassay in the evaluation of insulinomas and familial hyperproinsulinemia.
|
3023795 |
1986 |
Hyperproinsulinemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Proinsulin processing is quite sensitive to nutrient flux, and β-cell-specific deletion of the nutrient-sensing protein modifier OGlcNAc transferase (βOGTKO) causes β-cell failure and diabetes, including early development of hyperproinsulinemia.
|
31300553 |
2019 |
Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
311, 629-634] have recently described a family in which hyperproinsulinemia is inherited in an autosomal dominant pattern, suggesting a structural abnormality in the proinsulin molecule as the basis for this disorder.
|
3470784 |
1987 |
Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hyperproinsulinemia in a three-generation Caucasian family due to mutant proinsulin (Arg65-His) not associated with imparied glucose tolerance: the contribution of mutant proinsulin to insulin bioactivity.
|
8636380 |
1996 |
Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia.
|
3470784 |
1987 |
Hyperproinsulinemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These mutant proinsulin proteins accumulate in the endoplasmic reticulum (ER) and are poorly secreted except for G84R and in contrast to wild-type and hyperproinsulinemia-associated mutant proteins (H34D and R89H) which were sorted to secretory granules and efficiently secreted.
|
20034470 |
2010 |
Hyperproinsulinemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our results reveal the identity of key players that establish a previously unknown link between insulin signaling, translation initiation, and proinsulin processing, and provide previously unidentified mechanistic insight into the development of hyperproinsulinemia in insulin-resistant states.
|
24843127 |
2014 |