Results 21 to 30 of about 11,016 (204)

Melanocortin-4 receptor mutations and polymorphisms do not affect weight loss after bariatric surgery. [PDF]

PLoS ONE, 2012
Bariatric surgery is the most effective long term weight-loss therapy for severe and morbidly obese patients. Melanocortin-4 Receptor (MC4R) mutations, the most frequent known cause of monogenic obesity, affect the regulation of energy homeostasis.
Marion Valette, Christine Poitou, Johanne Le Beyec, Jean-Luc Bouillot, Karine Clement, Sébastien Czernichow   +5 more
doaj   +1 more source

Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation

Cell Reports, 2021
Summary: The Melanocortin-4 Receptor (MC4R) plays a pivotal role in energy homeostasis. We used human MC4R mutations associated with an increased or decreased risk of obesity to dissect mechanisms that regulate MC4R function.
Bas Brouwers, Edson Mendes de Oliveira, Maria Marti-Solano, Fabiola B.F. Monteiro, Suli-Anne Laurin, Julia M. Keogh, Elana Henning, Rebecca Bounds, Carole A. Daly, Shane Houston, Vikram Ayinampudi, Natalia Wasiluk, David Clarke, Bianca Plouffe, Michel Bouvier, M. Madan Babu, I. Sadaf Farooqi, Jacek Mokrosiński   +17 more
doaj   +1 more source

Activation of the Melanocortin-4 receptor signaling by α-MSH stimulates nerve-dependent mouse digit regeneration

Cell Regeneration, 2021
Background Expression of Mc4r in peripheral organs indicates it has broader roles in organ homeostasis and regeneration. However, the expression and function of Mc4r in the mouse limb and digit has not been fully investigated.
Hanqian Xu, Hailin Zhang, Yanqing Fang, Huiran Yang, Ying Chen, Chao Zhang, Gufa Lin   +6 more
doaj   +1 more source

Genetic structure and population dynamics of autochthonous and modern porcine breeds. Analysis of the IGF2 and MC4R genes that determine carcass characteristics

Austral Journal of Veterinary Sciences, 2020
To know the genetic situation of the Pampa Rocha, Celta, Bizaro Portuguese, Duroc, Iberian Extremeño and Iberian Andalusian porcine populations, their genetic structure and population dynamics were studied on the IGF2 and MC4R genes, which determine meat
Silvia Llambí, María Montenegro, Rosa Gagliardi, Carmen Burgos, Jorge Hidalgo, Pascual López-Buesa, María V. Arruga   +6 more
doaj   +1 more source

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity. [PDF]

Obesity (Silver Spring)
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Faccioli N, Poitou C, Georget M, Bertin F, Azar-Kolakez A, Carette C, Faucher P, Gatta-Cherifi B, Gonneau-Lejeune J, Linglart A, Clément K, Bihan JLB, Dubern B.   +12 more
europepmc   +2 more sources

Current Mechanistic and Pharmacodynamic Understanding of Melanocortin-4 Receptor Activation

Molecules, 2019
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, Alastair S. Garfield, Bhavik Shah, Patrick Kleyn, Ilia Ichetovkin, Ida Hatoum Moeller, William R. Mowrey, Lex H.T. Van der Ploeg   +7 more
doaj   +1 more source

Genetics of Common Obesity in Children and Adolescents. [PDF]

Ann N Y Acad Sci
Abstract Childhood obesity is a multifactorial public health problem worldwide. Genetic variation influences the predisposition to develop obesity at early stages of life. Childhood obesity may be classified as syndromic, monogenic, or polygenic depending on the genetic component.
León-Reyes G, Alavez FJL, Tejero ME.
europepmc   +2 more sources

Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability

Scientific Reports, 2018
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
doaj   +1 more source

Reduction in corpora lutea number in obese melanocortin-4-receptor-deficient mice

Reproductive Biology and Endocrinology, 2009
Obese melanocortin-4-receptor-deficient (MC4R-/-) male mice are reported to have erectile dysfunction, while homozygous MC4R-/- female mice are apparently fertile.
Schöneberg Torsten, Merkwitz Claudia, Schulz Angela, Sandrock Mara, Spanel-Borowski Katharina, Ricken Albert   +5 more
doaj   +1 more source

Association of single nucleotide polymorphism in melanocortin receptor gene with egg production traits in lohmann brown chickens [PDF]

Kafkas Universitesi Veteriner Fakültesi Dergisi, 2017
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
doaj   +1 more source