Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
While mouse models with deficient IL-6 signaling show an ameliorated but not absent Diethylnitrosamine (DEN)-induced HCC development, the morbid obesity in mice with mutant leptin signaling complicates the dissection of hepatic leptin receptor (LEPR) and IL-6 signaling in HCC development.
|
30224299 |
2018 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We identified a homozygous loss-of-function mutation, NM_002303.5:c.464 T > G; p.(Tyr155*), in the LEPR in an extended consanguineous family with multiple individuals affected by early-onset severe obesity and hyperphagia.
|
29545012 |
2018 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We estimated the prevalence of LEPR mutations in French patients with severe obesity and evaluated mutated patients' phenotype.
|
25751111 |
2015 |
Obesity, Morbid
|
0.400 |
Biomarker
|
disease |
BEFREE |
The massive obesity caused in rodents by the disruption of the leptin-receptor signal through genetic defects at the level of either leptin (OB) or leptin receptor (OB-R) has raised the question of the relevance of these genes to morbid obesity in humans.
|
9545018 |
1998 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Rodents with mutations in the leptin receptor gene develop morbid obesity.
|
9175732 |
1997 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density.
|
26925581 |
2016 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Loss of function (LoF) mutations in the MC4R pathway, including mutations in the pro-opiomelanocortin (POMC), prohormone convertase 1 (PCSK1), leptin receptor (LEPR), or MC4R genes, have been shown to cause early-onset severe obesity.
|
29726959 |
2018 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Leptin receptors belong to glycoprotein 130 (gp130) family of cytokine receptors and exist in six isoforms (LEPR a-f), and all the isoforms are encoded by LEPR gene; out of these isoforms, the LEPR-b receptor is the 'longest form,' and in most of the cases, mutations in this isoform cause severe obesity.
|
27313173 |
2016 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the present study we explored the association of six <i>LEPR</i> gene polymorphisms in patients with morbid obesity.
|
28096764 |
2016 |
Obesity, Morbid
|
0.400 |
Biomarker
|
disease |
BEFREE |
In summary, our results do not support a major role of the human OBR gene in the development of morbid obesity in our population.
|
9341859 |
1997 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In rodents, homozygous mutations in genes encoding leptin or the leptin receptor cause early-onset morbid obesity, hyperphagia and reduced energy expenditure.
|
9537324 |
1998 |
Obesity, Morbid
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In order to examine the involvement of leptin in the ossification of spinal ligaments (OSL), the present study examined (i) serum levels of leptin and insulin in OSL patients and controls, (ii) serum leptin levels in children of OSL females with severe obesity, (iii) the expression of leptin receptor mRNA in human spinal ligaments, and (iv) effects of leptin on cultured human ligament cells.
|
10673363 |
2000 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Finally, an association between CH and severe obesity has been described in patients with leptin receptor (Leptin-R) mutations.
|
11964021 |
2001 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of 29 SNPs (P < 1 × 10(-5)) in an additional 971 severely obese children and 1,990 controls identified 4 new loci associated with severe obesity (LEPR, PRKCH, PACS1 and RMST).
|
23563609 |
2013 |
Obesity, Morbid
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Disruption of the signal transducer and activator of transcription 3 (STAT3) in the hypothalamic neurons expressing leptin receptor, results in severe obesity, hyperglycaemia, and hyperinsulinemia.
|
19390493 |
2009 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Association of dopamine D2 receptor and leptin receptor genes with clinically severe obesity.
|
23670889 |
2013 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among 73 children with severe obesity (BMI SDS > 3.0), we identified 22 probands and 5 relatives, carrying 10 different loss-of-function homozygous mutations in LEP, leptin receptor (LEPR), and MC4R genes, including 4 novel variants.
|
26179253 |
2015 |
Obesity, Morbid
|
0.400 |
Biomarker
|
disease |
CTD_human |
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.
|
9537324 |
1998 |
Obesity, Morbid
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Leptin receptor (LepR) deficiency is an autosomal-recessive endocrine disorder causing early-onset severe obesity, hyperphagia and pituitary hormone deficiencies.
|
31658438 |
2020 |