Setmelanotide – from genes to targeted therapy in some rare forms of obesity [PDF]
Obesity is a serious public health concern. It significantly affects an individual’s quality of life and is associated with an increased risk of developing other conditions, including diabetes, hypertension, and cardiovascular complications.
Dawid Frączkowski
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Bariatric surgery in a patient with complete MC4R deficiency [PDF]
Bariatric surgery is often successful for treatment of severe obesity. The mechanisms of weight loss after bariatric surgery and the role of central energy homeostatic pathways in this weight loss process are not well understood. The study of individuals with complete loss of function of genes important in the leptin-melanocortin system may help ...
I R, Aslan +5 more
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Current Mechanistic and Pharmacodynamic Understanding of Melanocortin-4 Receptor Activation
In this work we summarize our understanding of melanocortin 4 receptor (MC4R) pathway activation, aiming to define a safe and effective therapeutic targeting strategy for the MC4R.
Shubh Sharma +7 more
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Reduction in corpora lutea number in obese melanocortin-4-receptor-deficient mice
Obese melanocortin-4-receptor-deficient (MC4R-/-) male mice are reported to have erectile dysfunction, while homozygous MC4R-/- female mice are apparently fertile.
Schöneberg Torsten +5 more
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A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding. [PDF]
Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene represent the most frequent cause of monogenic obesity in humans. MC4R mutation analysis in a cohort of 77 children with morbid obesity identified previously unreported heterozygous ...
Susana Granell +6 more
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Association of single nucleotide polymorphism in melanocortin receptor gene with egg production traits in lohmann brown chickens [PDF]
Melanocortin receptor (MC4R) plays an important role in central melanocortin system and regulation of feed intake in birds. In this study the melanocortin gene (MC4R) was proposed as a candidate gene for egg production traits (yield and weight) in ...
Karim EL-SABROUT, Sarah AGGAG
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POMC neurons control fertility through differential signaling of MC4R in kisspeptin neurons
Inactivating mutations in the melanocortin 4 receptor (MC4R) gene cause monogenic obesity. Interestingly, female patients also display various degrees of reproductive disorders, in line with the subfertile phenotype of Mc4r KO female mice.
Rajae Talbi +11 more
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Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability
Screening 92,445 subjects in the Geisinger-Regeneron DiscovEHR cohort, we identified 5 patients heterozygous for nonsense mutations causing early terminations at Glu307 or Leu328 on the C-terminus of melanocortin 4 receptor (MC4R).
Bryn S. Moore, Tooraj Mirshahi
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Upregulation of MC4R in rat liver regeneration [PDF]
BACKGROUND: Melanocortin 4 receptor (MC4R) is predominantly recognized to mediate energy metabolism and anti-inflammation through the central nervous system. However, the expression of MC4R has recently been identified in rat liver and was shown to be upregulated during acute phase response.
Xu, Min +4 more
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Melanocortin 4 Receptor and Dopamine D2 Receptor Expression in Brain Areas Involved in Food Intake [PDF]
BackgroundThe melanocortin 4 receptor (MC4R) is involved in the regulation of homeostatic energy balance by the hypothalamus. Recent reports showed that MC4R can also control the motivation for food in association with a brain reward system, such as ...
Ye Ran Yoon, Ja-Hyun Baik
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