Results 41 to 50 of about 18,245 (206)
Association between MC4R rs17782313 polymorphism and overeating behaviors [PDF]
Melanocortins play a crucial role in appetite and weight regulation. Although the melanocortin 4 receptor (MC4R) gene has been repeatedly linked to obesity and antipsychotic-induced weight gain, the mechanism behind how it leads to this effect in still undetermined.
Yilmaz, Z. +6 more
openaire +3 more sources
A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease [PDF]
Existing knowledge of genetic variants affecting risk of coronary artery disease (CAD) is largely based on genome-wide association studies (GWAS) analysis of common SNPs.
Alver, Maris +153 more
core +5 more sources
Heterozygous mutations in the coding sequence of the serpentine melanocortin 4 receptor (MC4R) are the most frequent genetic cause of severe human obesity. Since haploinsufficiency has been proposed as a causal mechanism of obesity associated with these mutations, reduction in gene transcription caused by mutations in the transcriptionally essential ...
Cecile Lubrano-Berthelier +7 more
openaire +1 more source
Vagal Blocking for Obesity Control : a Possible Mechanism-Of-Action [PDF]
14 September 2016 Erratum to: Vagal Blocking for Obesity Control: a Possible Mechanism-Of-Action Helene Johannessen, David Revesz, Yosuke Kodama, Nikki Cassie, Karolina P Skibicka, Perry Barrett, Suzanne Dickson, Jens Holst, Jens Rehfeld, Geoffrey van ...
Adan, Roger +14 more
core +1 more source
Objective: Melanocortin 2 receptor accessory protein 2 (MRAP2) has a critical role in energy homeostasis. Although MRAP2 has been shown to regulates a number of GPCRs involved in metabolism, the key neurons responsible for the phenotype of gross obesity ...
Giuseppe Bruschetta +3 more
doaj +1 more source
Missing Heritability in the Tails of Quantitative Traits? A Simulation Study on the Impact of Slightly Altered True Genetic Models [PDF]
Objective: Genome-wide association studies have identified robust associations between single nucleotide polymorphisms and complex traits. As the proportion of phenotypic variance explained is still limited for most of the traits, larger and larger meta ...
André Scherag +7 more
core +1 more source
Melanocortin Receptor 4 (MC4R) Signaling System in Nile Tilapia [PDF]
The melanocortin receptor 4 (MC4R) signaling system consists of MC4R, MC4R ligands [melanocyte-stimulating hormone (MSH), adrenocorticotropin (ACTH), agouti-related protein (AgRP)], and melanocortin-2 receptor accessory protein 2 (MRAP2), and it has been proposed to play important roles in feeding and growth in vertebrates.
Tianqiang Liu +9 more
openaire +2 more sources
Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno +7 more
wiley +1 more source
Melanocortin 4 receptor (MC4R), a notable component of the melanocortin system, regulates appetite, body weight, and energy homeostasis. Genome-wide association studies have identified several MC4R variants associated with adiposity; of these, rs17782313,
Maha M. Hammad +11 more
doaj +1 more source
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source

