Functional consequences of the human leptin receptor (LEPR) Q223R transversion (Q33600007)

28 July 2017

title

Functional consequences of the human leptin receptor (LEPR) Q223R transversion (English)

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28 July 2017

Rudolph L Leibel

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28 July 2017

author name string

George Stratigopoulos

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28 July 2017

Charles A LeDuc

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28 July 2017

Naoki Matsuoka

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28 July 2017

Roee Gutman

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28 July 2017

Richard Rausch

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28 July 2017

Scott A Robertson

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28 July 2017

Martin G Myers

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28 July 2017

Wendy K Chung

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28 July 2017

Streamson C Chua

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28 July 2017

publication date

6 November 2008

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28 July 2017

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28 July 2017

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28 July 2017

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28 July 2017

page(s)

126-135

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TCF7L2 is not a major susceptibility gene for type 2 diabetes in Pima Indians: analysis of 3,501 individuals

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

The long form of the leptin receptor regulates STAT5 and ribosomal protein S6 via alternate mechanisms

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Mice lacking inhibitory leptin receptor signals are lean with normal endocrine function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

The V103I polymorphism of the MC4R gene and obesity: population based studies and meta-analysis of 29 563 individuals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Enhanced PIP3 signaling in POMC neurons causes KATP channel activation and leads to diet-sensitive obesity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Hypothalamic mTOR signaling regulates food intake

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

G-2548A polymorphism of the leptin gene is correlated with extreme obesity in Taiwanese aborigines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Mapping of binding site III in the leptin receptor and modeling of a hexameric leptin.leptin receptor complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Genetics of leptin and obesity: a HuGE review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Leptin receptor activation depends on critical cysteine residues in its fibronectin type III subdomains

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

PI3K integrates the action of insulin and leptin on hypothalamic neurons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Pleiotropy of leptin receptor signalling is defined by distinct roles of the intracellular tyrosines.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Mapping of the leptin binding sites and design of a leptin antagonist

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

AMP-kinase regulates food intake by responding to hormonal and nutrient signals in the hypothalamus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Leptin signaling in the central nervous system and the periphery

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Transgenic complementation of leptin receptor deficiency. II. Increased leptin receptor transgene dose effects on obesity/diabetes and fertility/lactation in lepr-db/db mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

STAT3 signalling is required for leptin regulation of energy balance but not reproduction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Intracellular signalling. Key enzyme in leptin-induced anorexia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

SOCS3 mediates feedback inhibition of the leptin receptor via Tyr985

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Activation of downstream signals by the long form of the leptin receptor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Heterozygosity for Lep(ob) or Lep(rdb) affects body composition and leptin homeostasis in adult mice.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Localization of Leptin Binding Domain in the Leptin Receptor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Divergent Signaling Capacities of the Long and Short Isoforms of the Leptin Receptor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Constitutive and impaired signaling of leptin receptors containing the Gln → Pro extracellular domain fatty mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Human leptin receptor gene in obese Japanese subjects: evidence against either obesity-causing mutations or association of sequence variants with obesity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Exonic and Intronic Sequence Variation in the Human Leptin Receptor Gene (LEPR)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Congenital leptin deficiency is associated with severe early-onset obesity in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Leptin receptor gene variation and obesity: lack of association in a white British male population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Structure and sequence variation at the human leptin receptor gene in lean and obese Pima Indians

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Amino acid variants in the human leptin receptor: lack of association to juvenile onset obesity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

The full-length leptin receptor has signaling capabilities of interleukin 6-type cytokine receptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

Phenotypes of mouse diabetes and rat fatty due to mutations in the OB (leptin) receptor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2808713

A leptin missense mutation associated with hypogonadism and morbid obesity.

21 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Partial leptin deficiency and human adiposity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Proopiomelanocortin gene variants are associated with serum leptin and body fat in a normal female population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Transgenic complementation of leptin-receptor deficiency. I. Rescue of the obesity/diabetes phenotype of LEPR-null mice expressing a LEPR-B transgene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Divergent roles of SHP-2 in ERK activation by leptin receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Mapping of the interface between leptin and the leptin receptor CRH2 domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Regulation of Jak kinases by intracellular leptin receptor sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Association analysis of the Gln223Arg polymorphism in the human leptin receptor gene, and traits related to obesity in Mexican adolescents

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Leptin receptor genotype at Gln223Arg is associated with body composition, BMD, and vertebral fracture in postmenopausal Danish women

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Relationships between serum soluble leptin receptor level and serum leptin and adiponectin levels, insulin resistance index, lipid profile, and leptin receptor gene polymorphisms in the Japanese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

The Gln223Arg polymorphism in the leptin receptor is associated with familial combined hyperlipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Associations between the Leptin Receptor Gene and Adiposity in Middle-Aged Caucasian Males from the HERITAGE Family Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Linkages and associations between the leptin receptor (LEPR) gene and human body composition in the Québec Family Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

LEPR gene polymorphisms: associations with overweight, fat mass and response to diet in women

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

The Gln223Arg polymorphism of the leptin receptor in Pima Indians: influence on energy expenditure, physical activity and lipid metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Association analysis of genes involved in the leptin-signaling pathway with obesity in Brazil

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Polymorphisms in the NPY and AGRP genes and body fatness in Dutch adults

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Molecular screening of the ghrelin gene in Italian obese children: the Leu72Met variant is associated with an earlier onset of obesity

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

A polymorphism in the 5' untranslated region of the human ob gene is associated with low leptin levels

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

A polymorphic marker in the leptin gene associated with Japanese morbid obesity

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

The Gln223 Arg and Lys656 Asn Polymorphisms in the Human Leptin Receptor Do Not Associate With Traits Related to Obesity

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Characterization and binding specificity of the monomeric STAT3-SH2 domain

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

The influence of genetic background on the expression of mutations at the diabetes (db) locus in the mouse. VI: Hepatic malic enzyme activity is associated with diabetes severity

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

A single nucleotide polymorphism (SNP) in the leptin receptor is associated with BMI, fat mass and leptin levels in postmenopausal Caucasian women

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Combination of polymorphisms in OB-R and the OB gene associated with insulin resistance in Nauruan males

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

LEPR, ADBR3, IRS-1 and 5-HTT genes polymorphisms do not associate with obesity

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FOBY.2008.489

Identification of the critical sequence elements in the cytoplasmic domain of leptin receptor isoforms required for Janus kinase/signal transducer and activator of transcription activation by receptor heterodimers

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18997673

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Associations between the leptin receptor gene and adiposity in middle-aged Caucasian males from the HERITAGE family study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18997673

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/OBY.2008.489

1 reference

28 July 2017

1 reference

28 July 2017

1 reference