Results 81 to 90 of about 60,346 (220)

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
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, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.

PLoS ONE, 2014
BackgroundThe melanocortin 4 receptor (MC4R) critically regulates feeding and satiety. Rare variants in MC4R are predominantly found in obese individuals.
Bryn S Moore, Uyenlinh L Mirshahi, Evan A Yost, Ann N Stepanchick, Michael D Bedrin, Amanda M Styer, Kathryn K Jackson, Christopher D Still, Gerda E Breitwieser, Glenn S Gerhard, David J Carey, Tooraj Mirshahi   +11 more
doaj   +1 more source

Hypothalamic gene expression during voluntary hypophagia in the Sprague-Dawley rat on withdrawal of the palatable liquid diet, Ensure [PDF]

, 2014
Copyright © 2014 Elsevier Inc.
Archer, Zoe A, Duncan, Jacqueline S, Mercer, Julian G   +2 more
core   +1 more source

Effectiveness and Safety of Setmelanotide in a Patient With a Heterozygous PCSK1 Deficiency

Obesity, EarlyView.
ABSTRACT Setmelanotide, a melanocortin 4 receptor (MC4R) agonist, is a promising pharmacological treatment option for people with rare monogenic obesity conditions affecting the leptin‐melanocortin signaling pathway, including proprotein convertase subtilisin/kexin type 1 (PCSK1) gene mutations.
Ellina Lytvyak, Arshdeep Rattol, Eduardo Grunvald   +2 more
wiley   +1 more source

L-Cell Expression of Melanocortin-4-Receptor Is Marginal in Most of the Small Intestine in Mice and Humans and Direct Stimulation of Small Intestinal Melanocortin-4-Receptors in Mice and Rats Does Not Affect GLP-1 Secretion

Frontiers in Endocrinology, 2021
The molecular sensors underlying nutrient-stimulated GLP-1 secretion are currently being investigated. Peripheral administration of melanocortin-4 receptor (MC4R) agonists have been reported to increase GLP-1 plasma concentrations in mice and humans but ...
Rune E. Kuhre, Rune E. Kuhre, Rune E. Kuhre, Ida M. Modvig, Ida M. Modvig, Sara L. Jepsen, Sara L. Jepsen, Hüsün S. Kizilkaya, Cecilie Bæch-Laursen, Cecilie Bæch-Laursen, Christopher A. Smith, Frank Reimann, Fiona M. Gribble, Mette M. Rosenkilde, Jens J. Holst, Jens J. Holst   +15 more
doaj   +1 more source

Activation of Ventral Tegmental Area 5-HT2C Receptors Reduces Incentive Motivation [PDF]

, 2016
FUNDING AND DISCLOSURE The research was funded by Wellcome Trust (WT098012) to LKH; and National Institute of Health (DK056731) and the Marilyn H. Vincent Foundation to MGM.
AH Rezvani, AJ Hill, B Doslikova, C Harvey-Lewis, C Miguelez, CD Wynne, Christopher M Bradshaw, CK Martin, CM Bradshaw, CM Olarte-Sanchez, CM Olarte-Sanchez, CM Olarte-Sanchez, Cristian M Olarte-Sánchez, David J Lyons, DD Lam, DJ Hayes, DJ Urban, ED Levin, G Bezzina, G Paxinos, GA Higgins, GM Alexander, GS Kranz, HY Meltzer, JC Halford, JD Salamone, JE Aberman, JE Blundell, L Valencia-Torres, LK Burke, LK Burke, LK Burke, LK Heisler, Lora K Heisler, Lourdes Valencia-Torres, M Filip, Martin G Myers, Megan Greenwald-Yarnell, MJ Bubar, MJ Bubar, NR Richardson, P Skjoldager, PJ Fletcher, PJ Fletcher, PR Killeen, PR Killeen, RJ DiLeone, S Burbassi, S Higgs, SM Graves, SP Vickers, Teodora Georgescu, V Di Matteo, W Hodos, WJ Thomsen, Y Xu   +55 more
core   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
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, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Glucose Intake during the Neonatal Period Modulates the Central Melanocortin System with Breed-Specific Differences

The Journal of Poultry Science
Glucose is the primary substrate for cellular energy production, and its blood concentration is tightly regulated. This study investigated the effect of glucose supplementation during the first three days post-hatching on growth performance and ...
Kazuki Kimura, Yuuna Watanabe, Sachi Ashizawa, Koichi Matsushita, Nobuhiro Nakao, Yoshiyuki Ohta, Jun-ichi Shiraishi   +6 more
doaj   +1 more source

MRAP2 regulates energy homeostasis by promoting primary cilia localization of MC4R

JCI Insight, 2023
The G protein–coupled receptor melanocortin-4 receptor (MC4R) and its associated protein melanocortin receptor–associated protein 2 (MRAP2) are essential for the regulation of food intake and body weight in humans.
Adelaide Bernard, Irene Ojeda Naharros, Xinyu Yue, Francois Mifsud, Abbey Blake, Florence Bourgain-Guglielmetti, Jordi Ciprin, Sumei Zhang, Erin McDaid, Kellan Kim, Maxence V. Nachury, Jeremy F. Reiter, Christian Vaisse   +12 more
doaj   +1 more source

Bace1-dependent amyloid processing regulates hypothalamic leptin sensitivity in obese mice [PDF]

, 2018
We thank AstraZeneca for providing AZ-4217, Mark Smith (Imperial College, London) and Yuchio Yanagawa (Gunma University, Maebashi) for VGlut2-GFP and GAD67-GFP tissue, respectively.
Allsop, David J. P., Ashford, Michael L. J., Bailey, Charlotte L. S., Cavellini, Daniella L., Dale, J. Kim, Heisler, Lora K., Irvine, Stuart W., Jalicy, Susan M., Liddell, Mary K., Liu, Yu-Ru, McCrimmon, Rory J., McGinley, Christopher, McNeilly, Alison D., Meakin, Paul J., Montagut, Gemma, Parmionova, Karolina   +15 more
core   +5 more sources