LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We propose that this expanded framework for understanding the mechanisms underlying leptin deficiency arising from genetic mutations may be useful in designing therapeutics for leptin-associated disorders.
|
29950524 |
2018 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Children with rare homozygous mutations in the leptin gene and complete leptin deficiency develop extreme hyperphagia and obesity soon after birth but respond with normal eating and a selective loss of excess body fat upon being given small amounts of leptin.
|
12403081 |
2002 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The only situation in which obesity does not parallel leptin values is the rare case of morbid obesity due to leptin deficiency caused by missense mutation of the leptin gene.
|
12519870 |
2003 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Biologically inactive leptin and early-onset extreme obesity.
|
25551525 |
2015 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A leptin missense mutation associated with hypogonadism and morbid obesity.
|
9500540 |
1998 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This dual-cassette vector achieves highly selective transduction of visceral fat while severely restricting off-target transduction of liver.As proof of efficacy, i.p. administration of an adipose-targeting Rec2 vector harboring the leptin gene corrects leptin deficiency, obesity, and metabolic syndromes of <i>ob</i>/<i>ob</i> mice.
|
28702474 |
2017 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In humans, leptin deficiency due to a mutation in the leptin gene is associated with early-onset obesity.
|
9537324 |
1998 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Ten cases had leptin deficiency (12.5%), while 18 cases showed elevated leptin levels (22.5%).
|
31483094 |
2020 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Leptin replacement therapy reverses endocrine and metabolic alterations associated with leptin deficiency.
|
21340154 |
2010 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have previously demonstrated that genetically based leptin deficiency due to a missense leptin gene mutation in a highly consanguineous extended Turkish pedigree is associated with morbid obesity and hypogonadism.
|
10523015 |
1999 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, short-term leptin substitution can increase the blood pressure and heart rate in obese humans with leptin deficiency, indicating that leptin plays at least an additive role in obesity-associated hypertension.
|
31357197 |
2019 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our data show that similar to findings in obese humans, homozygous or heterozygous leptin deficiency is associated with increased platelet aggregation compared with controls, and that higher concentrations of leptin do not increase platelet aggregation.
|
11595779 |
2001 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
With the exception of ob/ob mice, circulating plasma leptin is elevated in all other obese rodents as well as in obese humans, suggesting that leptin resistance rather than leptin deficiency is a characteristic feature of obesity.
|
9243102 |
1997 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
Preterm delivery leads to premature separation from the maternal and placental leptin source predisposing infants to postnatal leptin deficiency, but this has not been fully described.
|
30845123 |
2019 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recombinant methionyl human leptin (metreleptin) therapy was shown to improve hyperglycaemia, dyslipidaemia and insulin sensitivity in patients with lipodystrophic syndromes, but its effects on insulin secretion remain controversial.We used dynamic intravenous (i.v.) clamp procedures to measure insulin secretion, adjusted to insulin sensitivity, at baseline and after 1 year of metreleptin therapy, in 16 consecutive patients with lipodystrophy, diabetes and leptin deficiency.
|
26584826 |
2016 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
Measurement of immunofunctional leptin to detect and monitor patients with functional leptin deficiency.
|
28007844 |
2017 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
Plasma leptin in humans is positively correlated with body fat mass, suggesting that leptin resistance rather than leptin deficiency is a common feature of human obesity.
|
8886745 |
1996 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
While leptin replacement therapy fails to provide substantial benefit in common obesity, it is an effective treatment for congenital leptin deficiency and states of acquired leptin deficiency such as lipodystrophy.
|
30475221 |
2019 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
Leptin's physiological functions as well as deleterious effects in states of leptin deficiency or hyperleptinemia are emphasized.
|
23374894 |
2013 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
The subcutaneous administration of recombinant human leptin has major and sustained beneficial effects on the multiple phenotypic abnormalities associated with congenital human leptin deficiency.
|
12393845 |
2002 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
Leptin deficiency in mice counteracts imiquimod (IMQ)-induced psoriasis-like skin inflammation while leptin stimulation induces inflammation in human keratinocytes.
|
27488462 |
2017 |
LEPTIN DEFICIENCY OR DYSFUNCTION
|
0.800 |
Biomarker
|
disease |
BEFREE |
The observation of leptin deficiency in patients with lipodystrophy and the potential of leptin replacement to rescue metabolic abnormalities in animal models of lipodystrophy were followed by the first clinical study of leptin therapy in patients with severe lipodystrophy.
|
30370487 |
2018 |