Haploinsufficiency of the melanocortin-4 receptor: part of a thrifty genotype? (Q35126774)

6 August 2017

title

Haploinsufficiency of the melanocortin-4 receptor: part of a thrifty genotype? (English)

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6 August 2017

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Cone RD

1

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6 August 2017

language of work or name

English

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publication date

1 July 2000

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Journal of Clinical Investigation

6 August 2017

published in

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6 August 2017

volume

106

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6 August 2017

issue

2

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6 August 2017

page(s)

185-187

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Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"?

6 August 2017

cites work

1 reference

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

28 July 2018

1 reference

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

28 July 2018

1 reference

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Functional characterization of mutations in melanocortin-4 receptor associated with human obesity

28 July 2018

1 reference

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Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene

28 July 2018

1 reference

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Fasting regulates hypothalamic neuropeptide Y, agouti-related peptide, and proopiomelanocortin in diabetic mice independent of changes in leptin or insulin

28 July 2018

1 reference

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A frameshift mutation in human MC4R is associated with a dominant form of obesity

28 July 2018

1 reference

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A frameshift mutation in MC4R associated with dominantly inherited human obesity

28 July 2018

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Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

28 July 2018

1 reference

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Overexpression of Agrt leads to obesity in transgenic mice.

28 July 2018

1 reference

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Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein

28 July 2018

1 reference

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ART (protein product of agouti-related transcript) as an antagonist of MC-3 and MC-4 receptors

28 July 2018

1 reference

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Role of melanocortinergic neurons in feeding and the agouti obesity syndrome

28 July 2018

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Correction of the sterility defect in homozygous obese female mice by treatment with the human recombinant leptin

28 July 2018

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Cloning of the mouse agouti gene predicts a secreted protein ubiquitously expressed in mice carrying the lethal yellow mutation

28 July 2018

1 reference

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Positional cloning of the mouse obese gene and its human homologue

28 July 2018

1 reference

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Agouti protein is an antagonist of the melanocyte-stimulating-hormone receptor

28 July 2018

1 reference

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Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain

28 July 2018

1 reference

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Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration

28 July 2018

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Molecular characterization of the mouse agouti locus.

28 July 2018

1 reference

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Constitutively active mutants of rhodopsin

28 July 2018

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314319

Hypothalamic agouti-related protein messenger ribonucleic acid is inhibited by leptin and stimulated by fasting

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314319

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314319

Targeted disruption of the melanocortin-4 receptor results in obesity in mice

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=314319

Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10903333

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification and functional analysis of novel human melanocortin-4 receptor variants

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10903333

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI10628

1 reference

6 August 2017

1 reference

6 August 2017

1 reference