Results 31 to 40 of about 18,245 (206)

Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity. [PDF]

, 2018
Most monogenic cases of obesity in humans have been linked to mutations in genes encoding members of the leptin-melanocortin pathway. Specifically, mutations in MC4R, the melanocortin-4 receptor gene, account for 3-5% of all severe obesity cases in ...
A Hinney, A Marley, A Shalata, Aaron Marley, Adelaide A. Bernard, AS Garfield, BA Ersoy, Baran A. Ersoy, C Lubrano-Berthelier, C Lubrano-Berthelier, C Vaisse, C Vaisse, C Vaisse, Christian Vaisse, D Huszar, E Stergiakouli, F Hildebrandt, GA Bishop, GJ Morton, H Fenselau, JA Green, Jacqueline E. Siljee, Jeremy F. Reiter, JF Reiter, JR Davenport, KC Corbit, L Wu, M Calton, Mark Von Zastrow, MJ Krashes, N Balthasar, NF Berbari, P Aanstad, P Acs, SC Goetz, Sumei Zhang, Y Bromberg, Yi Wang, Z Wang   +38 more
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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

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

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 [PDF]

, 2003
We initially performed a mutation screen of the coding region of the MC4R in 808 extremely obese children and adolescents and 327 underweight or normal-weight controls allowing for a case-control study.
Anke Hinney, Anne-Kathrin Wermter, Britta Brokamp, Brocke, Claudia Hess, Cody, Constanze Vogel, Dubern, Farooqi, Frank Geller, Gotoda, Gu, Hanspeter Goldschmidt, Hebebrand, Hebebrand, Helmut Remschmidt, Helmut Schäfer, Hinney, Hirschhorn, Ho, Jacobson, Johannes Hebebrand, Katzmarzyk, Kobayashi, Lubrano-Berthelier, Mergen, Milligan, Milligan, Miraglia Del Giudice, Neel, Ohshiro, Salomon, Sarah Hohmann, Sina, Spielman, Stunkard, Thomas Gudermann, Vaisse, Vaisse, Wolfgang Siegfried, Yeo   +40 more
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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

Melanotan-II reverses autistic features in a maternal immune activation mouse model of autism [PDF]

, 2019
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by impaired social interactions, difficulty with communication, and repetitive behavior patterns. In humans affected by ASD, there is a male pre-disposition towards the
Gould, Georgianna G, Lang, Jordan, Mazarati, Andrey, Medel-Matus, Jesus-Servando, Minakova, Elena, Reynolds, Ashley, Sankar, Raman, Shin, Don   +7 more
core   +2 more sources

Melanocortin 4 Receptor and Dopamine D2 Receptor Expression in Brain Areas Involved in Food Intake [PDF]

Endocrinology and Metabolism, 2015
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
doaj   +1 more source

MC4R Gene Polymorphisms Interact With the Urbanized Living Environment on Obesity: Results From the Yi Migrant Study

Frontiers in Genetics, 2022
Objectives: This study aimed to determine the association of MC4R gene polymorphisms (rs17782313 and rs12970134) and urbanized living environment and the gene–environment interaction with obesity in Yi people in China.Methods: A 1:2 frequency-matched ...
Ye Wang, Li Pan, Shaoping Wan, Wuli Yihuo, Fang Yang, Huijing He, Zheng Li, Zhengping Yong, Guangliang Shan   +8 more
doaj   +1 more source

Novel pharmacological MC4R agonists can efficiently activate mutated MC4R from obese patient with impaired endogenous agonist response [PDF]

Journal of Endocrinology, 2010
Human melanocortin 4 receptor (hMC4R) mutations with in vitro functional effects are responsible for 0.5–2.5% of severe obesity. Designing ligands that are able to counteract this in vitro-associated molecular defect is crucial to develop specific anti-obesity drugs in these genetically associated cases.
Pierre, Roubert, Béatrice, Dubern, Pascale, Plas, Cécile, Lubrano-Berthelier, Rohia, Alihi, Florence, Auger, Daniel B, Deoliveira, Jesse Z, Dong, Arnaud, Basdevant, Christophe, Thurieau, Karine, Clément   +10 more
openaire   +2 more sources

Moderation of antipsychotic-induced weight gain by energy balance gene variants in the RUPP autism network risperidone studies. [PDF]

, 2013
Second-generation antipsychotic exposure, in both children and adults, carries significant risk for excessive weight gain that varies widely across individuals.
Aman, MG, Arnold, LE, Handen, B, Johnson, C, Lecavalier, L, McCracken, JT, McDougle, CJ, Nurmi, EL, Posey, DJ, Research Units on Pediatric Psychopharmacology Autism Network, Ritz, L, Scahill, LL, Spilman, SL, Stigler, KA, Sukhodolsky, DG, Tierney, E, Vitiello, B, Whelan, F   +17 more
core   +1 more source