|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.
|
9537324 |
1998 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
CTD_human |
A single family has been described in which obesity results from a mutation in the leptin-receptor gene (LEPR), but the prevalence of such mutations in severe, early-onset obesity has not been systematically examined.
|
17229951 |
2007 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
MGD |
SHBG-C57BL/ksJ-db/db: A New Mouse Model to Study SHBG Expression and Regulation During Obesity Development.
|
26441241 |
2015 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
BEFREE |
These include the hormone leptin, the short and long forms of the leptin receptor, uncoupling proteins, agouti protein, melanocortin receptor isoforms, melanin-concentrating hormone, and the proteins responsible for tub and fat, two monogenic mouse models of obesity.
|
9625380 |
1998 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, it is unlikely that mutations in the coding region of the long isoform of the leptin receptor are a common cause of juvenile onset obesity.
|
9144432 |
1997 |
|
Obesity
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Effects of diet-induced obesity and voluntary exercise in a tauopathy mouse model: implications of persistent hyperleptinemia and enhanced astrocytic leptin receptor expression.
|
25132556 |
2014 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This demonstrates an association between variation at the leptin receptor gene and obesity in humans.
|
9158141 |
1997 |
|
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 |
Since CCX140-B has a low affinity for mouse CCR2, transgenic human CCR2 knockin mice were generated and rendered diabetic with either a high-fat diet (diet-induced obesity) or by deletion of the leptin receptor gene (db/db).
|
23986513 |
2013 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Congenital deficiency of the leptin receptor is a very rare cause of severe early-onset obesity.
|
21306929 |
2011 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Leptin plays an important role in the regulation of body fat homeostasis, and potential associations of leptin receptor gene (LEPR) polymorphisms with obesity have been suggested.
|
16011872 |
2006 |
|
Obesity
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Lys656Asn polymorphism of LEPR gene is associated with obesity parameters, insulin resistance and glucose levels in patients with NAFLD.
|
22530350 |
2012 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
MGD |
Prostaglandin transporter modulates wound healing in diabetes by regulating prostaglandin-induced angiogenesis.
|
22609345 |
2012 |
|
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 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
RGD |
Endogenous leptin receptor signaling in the medial nucleus tractus solitarius affects meal size and potentiates intestinal satiation signals.
|
22693203 |
2012 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
MGD |
Impairment of long-term potentiation and spatial memory in leptin receptor-deficient rodents.
|
12150780 |
2002 |
|
Obesity
|
0.700 |
Biomarker
|
disease |
MGD |
The long form of leptin receptor (Ob-R(b)) is required for satiety; mice lacking this receptor (db/db mice) are also substantially obese.
|
16373670 |
2006 |