LEPTIN RECEPTOR DEFICIENCY
|
0.720 |
AlteredExpression
|
disease |
BEFREE |
In conclusion, activation of the leptin receptor ob‑R is an important pathogenic mechanism of UC, and leptin receptor deficiency may provide resistance against TNBS‑induced colitis by inhibiting the NF‑κB and RhoA signaling pathways.
|
31702041 |
2019 |
LEPTIN RECEPTOR DEFICIENCY
|
0.720 |
Biomarker
|
disease |
BEFREE |
A cohort of n = 21 children living in Germany or Austria with monogenic obesity due to congenital leptin deficiency (group LEP, n = 6), leptin receptor deficiency (group LEPR, n = 6) and primarily heterozygous MC4 receptor deficiency (group MC4R, n = 9) was analyzed.
|
29568105 |
2018 |
LEPTIN RECEPTOR DEFICIENCY
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Seven novel deleterious LEPR mutations found in early-onset obesity: a ΔExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect.
|
25751111 |
2015 |
LEPTIN RECEPTOR DEFICIENCY
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery.
|
23275530 |
2013 |
LEPTIN RECEPTOR DEFICIENCY
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.
|
17229951 |
2007 |
LEPTIN RECEPTOR DEFICIENCY
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.
|
9537324 |
1998 |
LEPTIN RECEPTOR DEFICIENCY
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.
|
9537324 |
1998 |
LEPTIN RECEPTOR DEFICIENCY
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
LEPTIN RECEPTOR DEFICIENCY
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
Protein tyrosine phosphatase 1B (PTP1B) has been considered as a promising therapeutic target for type 2 diabetes mellitus (T2DM) and obesity due to its key regulating effects in insulin signaling and leptin receptor pathways.
|
30611982 |
2019 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present a 3-year-old male patient with severe early-onset obesity whose genetic analysis revealed a homozygous, novel, and pathogenic variant (c.1603+2T>C) in LEPR.
|
30778850 |
2019 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study designates a strong association for FTO and LEPR variants with the risk of obesity among Egyptian subjects.
|
30767572 |
2019 |
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
Protein tyrosine phosphatase 1B (PTP1B) is a major negative regulator of both the insulin and leptin receptor phosphorylation which impacts insulin sensitivity and hence is a major therapeutic target for the treatment of type 2 diabetes and obesity.
|
31451955 |
2019 |
Obesity
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The central expression and function of leptin receptor B (LepRb) have been extensively studied during the past two decades; however, the mechanisms by which LepRb signaling dysregulation contributes to the pathophysiology of obesity remains unclear.
|
30802281 |
2019 |
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
Endospanin 1 (Endo1), a protein encoded in humans by the same gene than the leptin receptor (ObR), and increased by diet-induced obesity, is an important regulator of ObR trafficking and cell surface exposure, determining leptin signaling strength.
|
30326479 |
2019 |
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, LepR deficiency in early life led to irreversible obesity via suppression of energy expenditure.
|
30694175 |
2019 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Changes in Oxidized Low-Density Lipoprotein Rather Than in Paraoxonase1 are Associated with Changes in the Leptin/Leptin Receptor Ratio in Obese Children During Weight-Loss Therapy.
|
30235491 |
2019 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A spontaneous leptin receptor point mutation causes obesity and differentially affects leptin signaling in hypothalamic nuclei resulting in metabolic dysfunctions distinct from db/db mice.
|
31076350 |
2019 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Influence of K656N Polymorphism of the Leptin Receptor Gene on Obesity-Related Traits in Nondiabetic Afro-Caribbean Individuals.
|
30807250 |
2019 |
Obesity
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Secondly, maternal obesity (in the absence of gestational diabetes) was associated with (i) elevated DNA methylation of the leptin promoter on fetal side only, (ii) hypomethylation of the adiponectin promoter on the maternal side only, (iii) significantly low levels of leptin receptor protein (albeit in the absence of differences in mRNA levels and promoter DNA methylation), (iv) significantly low levels of adiponectin receptor 1 mRNA expression on the maternal side only, and (v) elevated DNA methylation of the adiponectin receptor 2 promoter on the maternal side only.
|
30732639 |
2019 |
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
VMH leptin signaling did not ameliorate obesity resulting from LepR deficiency in chow-fed mice.
|
31314542 |
2019 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This work demonstrates identification of novel mutation in LEPR gene resulting into early onset of obesity.
|
31070016 |
2019 |
Obesity
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Since leptin resistance is implicated in the pathogenesis of obesity, we herein report the effects of laparoscopic sleeve gastrectomy (LSG) on the serum levels of leptin and leptin receptor, in addition to its overall effect on leptin resistance.
|
31557979 |
2019 |
Obesity
|
0.700 |
Biomarker
|
disease |
CTD_human |
Elevated pulmonary arterial pressure in Zucker diabetic fatty rats.
|
30689673 |
2019 |
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
LEPR rs1137101 GG genotype was related to reduced risk of obesity (odds ratio [OR] 0.26, 95% confidence interval [CI] 0.08-0.79; p = 0.018) and MetS (OR 0.36, 95% CI 0.15-0.88; p = 0.024), but it was not significant after Bonferroni correction for multiple tests as compared to the AA genotype (p > 0.01).
|
28975585 |
2018 |