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Center for Nephrology and Metabolic Disorders
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Leptin receptor

The LEPR gene encodes the leptin receptor. Mutations are associated with familial combined hyperlipidemia.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Combined familial hyperlipidemia with adipose tissue dysfunction
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1

References:

1.

Björnholm M et al. (2007) Mice lacking inhibitory leptin receptor signals are lean with normal endocrine function.

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2.

Wauters M et al. (2001) Leptin receptor gene polymorphisms are associated with insulin in obese women with impaired glucose tolerance.

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3.

Yiannakouris N et al. (2001) The Q223R polymorphism of the leptin receptor gene is significantly associated with obesity and predicts a small percentage of body weight and body composition variability.

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4.

Cohen P et al. (2001) Selective deletion of leptin receptor in neurons leads to obesity.

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5.

Tian Z et al. (2002) Impaired natural killer (NK) cell activity in leptin receptor deficient mice: leptin as a critical regulator in NK cell development and activation.

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6.

Bates SH et al. (2003) STAT3 signalling is required for leptin regulation of energy balance but not reproduction.

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7.

Kaneto H et al. (2004) Possible novel therapy for diabetes with cell-permeable JNK-inhibitory peptide.

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8.

Zhang EE et al. (2004) Neuronal Shp2 tyrosine phosphatase controls energy balance and metabolism.

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9.

Morton GJ et al. (2005) Leptin action in the forebrain regulates the hindbrain response to satiety signals.

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10.

de Luca C et al. (2005) Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes.

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11.

Park KS et al. (2006) Polymorphisms in the leptin receptor (LEPR)--putative association with obesity and T2DM.

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12.

Raju SV et al. (2006) Activation of the cardiac ciliary neurotrophic factor receptor reverses left ventricular hypertrophy in leptin-deficient and leptin-resistant obesity.

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13.

Farooqi IS et al. (2007) Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

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14.

Uchida T et al. (2005) Deletion of Cdkn1b ameliorates hyperglycemia by maintaining compensatory hyperinsulinemia in diabetic mice.

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15.

Richert L et al. (2007) Bone mass in prepubertal boys is associated with a Gln223Arg amino acid substitution in the leptin receptor.

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16.

Morioka T et al. (2007) Disruption of leptin receptor expression in the pancreas directly affects beta cell growth and function in mice.

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17.

Seo S et al. (2009) Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.

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18.

Sun Q et al. (2010) Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.

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19.

Duggal P et al. (2011) A mutation in the leptin receptor is associated with Entamoeba histolytica infection in children.

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20.

Czupryn A et al. (2011) Transplanted hypothalamic neurons restore leptin signaling and ameliorate obesity in db/db mice.

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21.

Ding L et al. (2012) Endothelial and perivascular cells maintain haematopoietic stem cells.

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22.

Marie CS et al. (2012) Leptin protects host cells from Entamoeba histolytica cytotoxicity by a STAT3-dependent mechanism.

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23.

Kunisaki Y et al. (2013) Arteriolar niches maintain haematopoietic stem cell quiescence.

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24.

van der Kallen CJ et al. (2000) Genome scan for adiposity in Dutch dyslipidemic families reveals novel quantitative trait loci for leptin, body mass index and soluble tumor necrosis factor receptor superfamily 1A.

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25.

van der Vleuten GM et al. (2006) The Gln223Arg polymorphism in the leptin receptor is associated with familial combined hyperlipidemia.

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26.

Rosmond R et al. (2000) Hypertension in obesity and the leptin receptor gene locus.

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27.

Balthasar N et al. (2004) Leptin receptor signaling in POMC neurons is required for normal body weight homeostasis.

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28.

None (1978) Obese and diabetes: two mutant genes causing diabetes-obesity syndromes in mice.

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29.

None (1973) Effects of parabiosis of obese with diabetes and normal mice.

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30.

Tartaglia LA et al. (1995) Identification and expression cloning of a leptin receptor, OB-R.

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31.

Chua SC et al. (1996) Phenotypes of mouse diabetes and rat fatty due to mutations in the OB (leptin) receptor.

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32.

Chen H et al. (1996) Evidence that the diabetes gene encodes the leptin receptor: identification of a mutation in the leptin receptor gene in db/db mice.

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33.

Lee GH et al. (1996) Abnormal splicing of the leptin receptor in diabetic mice.

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34.

Considine RV et al. (1996) The hypothalamic leptin receptor in humans: identification of incidental sequence polymorphisms and absence of the db/db mouse and fa/fa rat mutations.

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35.

None (1996) Reflections on STAT3, STAT5, and STAT6 as fat STATs.

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36.

Ghilardi N et al. (1996) Defective STAT signaling by the leptin receptor in diabetic mice.

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37.

Chung WK et al. (1996) Mapping of the OB receptor to 1p in a region of nonconserved gene order from mouse and rat to human.

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38.

Takaya K et al. (1996) Molecular cloning of rat leptin receptor isoform complementary DNAs--identification of a missense mutation in Zucker fatty (fa/fa) rats.

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39.

Vaisse C et al. (1996) Leptin activation of Stat3 in the hypothalamus of wild-type and ob/ob mice but not db/db mice.

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40.

Winick JD et al. (1996) Identification of microsatellite markers linked to the human leptin receptor gene on chromosome 1.

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41.

Takaya K et al. (1996) Nonsense mutation of leptin receptor in the obese spontaneously hypertensive Koletsky rat.

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42.

Chung WK et al. (1996) Genomic structure of the human OB receptor and identification of two novel intronic microsatellites.

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43.

Golden PL et al. (1997) Human blood-brain barrier leptin receptor. Binding and endocytosis in isolated human brain microvessels.

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44.

Gotoda T et al. (1997) Leptin receptor gene variation and obesity: lack of association in a white British male population.

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45.

Gloaguen I et al. (1997) Ciliary neurotrophic factor corrects obesity and diabetes associated with leptin deficiency and resistance.

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46.

Clément K et al. (1998) A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction.

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47.

Sierra-Honigmann MR et al. (1998) Biological action of leptin as an angiogenic factor.

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48.

Ducy P et al. (2000) Leptin inhibits bone formation through a hypothalamic relay: a central control of bone mass.

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49.

Quinton ND et al. (2001) A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women.

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50.

Orphanet article

Orphanet ID 123038 external link
51.

NCBI article

NCBI 3953 external link
52.

OMIM.ORG article

Omim 601007 external link
53.

Wikipedia article

Wikipedia EN (Leptin_receptor) external link
Update: Aug. 14, 2020
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