Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene (Q57249770)

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31 December 2019

title

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

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31 December 2019

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4

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31 December 2019

Raffaella Buzzetti

9

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Philippe Froguel

14

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13

Pierre Bougnères

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15

David Meyre

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author name string

Fanny Stutzmann

1

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Vincent Vatin

2

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Stéphane Cauchi

3

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Béatrice Jouret

5

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Olfert Landt

6

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Patrick Tounian

7

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Claire Levy-Marchal

8

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Leonardo Pinelli

10

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Beverley Balkau

11

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Fritz Horber

12

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publication date

21 May 2007

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31 December 2019

published in

Human Molecular Genetics

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volume

16

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31 December 2019

page(s)

1837-1844

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issue

15

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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

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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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

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

21 January 2018

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The human MC4R promoter: characterization and role in obesity

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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Variation in FTO contributes to childhood obesity and severe adult obesity

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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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

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

21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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Body mass index reference curves for the UK, 1990

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDM132

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31 December 2019

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