(Q57249770)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17519222%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene (English)

1 reference

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31 December 2019

0 references

4

1 reference

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31 December 2019

Raffaella Buzzetti

9

1 reference

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31 December 2019

Philippe Froguel

14

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31 December 2019

13

Pierre Bougnères

1 reference

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31 December 2019

15

David Meyre

1 reference

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31 December 2019

author name string

Fanny Stutzmann

1

1 reference

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31 December 2019

Vincent Vatin

2

1 reference

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31 December 2019

Stéphane Cauchi

3

1 reference

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31 December 2019

Béatrice Jouret

5

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31 December 2019

Olfert Landt

6

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31 December 2019

Patrick Tounian

7

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31 December 2019

Claire Levy-Marchal

8

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31 December 2019

Leonardo Pinelli

10

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31 December 2019

Beverley Balkau

11

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31 December 2019

Fritz Horber

12

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31 December 2019

publication date

21 May 2007

1 reference

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31 December 2019

published in

Human Molecular Genetics

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31 December 2019

volume

16

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31 December 2019

issue

15

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31 December 2019

page(s)

1837-1844

1 reference

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Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin.

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Melanocortin-4 receptor gene variant I103 is negatively associated with obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Prevalence and functionality of paucimorphic and privateMC4Rmutations in a large, unselected European British population, scanned by meltMADGE

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

The human MC4R promoter: characterization and role in obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Proportion of disease caused or prevented by a given exposure, trait or intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Variation in FTO contributes to childhood obesity and severe adult obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

An evolutionary framework for common diseases: the ancestral-susceptibility model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Melanocortin 4 receptor mutations in a large cohort of severely obese adults: prevalence, functional classification, genotype-phenotype relationship, and lack of association with binge eating

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Melanocortin-4 receptor (MC4R) agonists for the treatment of obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Genetics of obesity and type 2 diabetes: tracking pathogenic traits during the predisease period

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

TheINSVNTR Locus Does Not Associate with Smallness for Gestational Age (SGA) but Interacts with SGA to Increase Insulin Resistance in Young Adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

PPAR-gamma2 Pro12Ala variant is associated with greater insulin sensitivity in childhood obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Binge eating as a major phenotype of melanocortin 4 receptor gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

Body mass index reference curves for the UK, 1990

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

ENPP1Variants and Haplotypes Predispose to Early Onset Obesity and Impaired Glucose and Insulin Metabolism in German Obese Children

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM132

21 January 2018

Identifiers

DOI

10.1093/HMG/DDM132

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17519222%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference