Results 81 to 90 of about 18,245 (206)

Genetic association study of adiposity and melanocortin-4 receptor (MC4R) common variants: Replication and functional characterization of non-coding regions [PDF]

, 2014
Common genetic variants 3′ of MC4R within two large linkage disequilibrium (LD) blocks spanning 288 kb have been associated with common and rare forms of obesity. This large association region has not been refined and the relevant DNA segments within the
A Dempfle, A Hinney, A Scherag, A Scherag, Annemarie Koster, BE Stranger, C Hou, Christian Vaisse, CJ Willer, CM Lindgren, D Huszar, D Lu, D Meyre, D Wang, Daniel S. Evans, DW Haslam, EH Young, EK Speliotes, F Geller, F Stutzmann, G Thorleifsson, GA Maston, Gregory J. Tranah, I Dunham, IM Heid, Iva Miljkovic, J Ernst, J Ernst, J Hebebrand, JC Chambers, JE Phillips, JM Hester, KA Frazer, KG Mountjoy, KL Monda, LA Pennacchio, MA Calton, Marta Letizia Hribal, MB Snijder, Mee J. Kim, Melissa A. Calton, MM Swarbrick, MW Schwartz, Nadav Ahituv, NP Blackledge, PI de Bakker, Pui-Yan Kwok, Q Li, R Kothary, RA Murphy, RJ Loos, S Beckers, S Fisher, SJ Kang, T Kelly, Tamara Harris, TP Yang, V Kistler-Heer, Wen-Chi Hsueh, WJ Kent, Yongmei Liu, Z Xiang   +61 more
core   +4 more sources

Toward Timely Diagnosis of Pancreatic Cancer: Revolutionizing Early Detection Through Genomics, Artificial Intelligence, and Noninvasive Biomarkers

Journal of Gastroenterology and Hepatology, Volume 41, Issue 3, Page 895-913, March 2026.
ABSTRACT Background Pancreatic ductal adenocarcinoma (PDAC) remains one of the most aggressive cancers, typically diagnosed at an advanced stage due to its subtle and often absent early symptoms. Despite representing only 3% of new cancer cases, it is projected to become the second leading cause of cancer‐related deaths by 2030.
Muhammad Masroor Hussain, Sana Qammar, Ju‐Mei Wang, Ao‐Qiang Zhai, Fu‐yu Li, Hai‐jie Hu   +5 more
wiley   +1 more source

Hauptgeneffekt auf die Entstehung exzremer Adipositas bei Kindern und Jugendlichen durch funktionell relevante Mutationen des Melanocortin 4 Rezeptor-Gens [PDF]

, 2004
Adipositas stellt in unserer Gesellschaft zunehmend nicht nur ein Problem für die Gesundheit und Lebensqualität des Betroffenen, sondern auch eine sozioökonomische Belastung für die Gemeinschaft dar.
Hebebrand, Prof. Dr. Johannes, Vogel, Constanze Martina   +1 more
core   +1 more source

Age of obesity onset in MC4R mutation carriers

Endocrine Regulations, 2015
The mutations in gene for the melanocortin-4 receptor (MC4R) are the most common etiology factors of monogenic obesity development. Recently, it has been shown that current life style has a significant impact on the phenotype of MC4R mutation carriers - increases the penetrance of the mutations.
D, Stanikova, M, Surova, M, Buzga, M, Skopkova, L, Ticha, M, Petrasova, M, Huckova, D, Gabcova-Balaziova, L, Valentova, M, Mokan, I, Zavacka, J, Stanik, I, Klimes, D, Gasperikova   +13 more
openaire   +2 more sources

Alk‐Fam150b (augmentor α) expression in the paraventricular nucleus of the mouse hypothalamus at molecular resolution, and its sensitivity to acute stress

Journal of Neuroendocrinology, Volume 38, Issue 3, March 2026.
In this study, Laurent Gueissaz and his colleagues use cell‐resolved molecular profiling and in situ hybridization to characterize cellular underpinnings of augmentor α‐ALK signaling in the paraventricular nucleus of the mouse hypothalamus. They also show that acute stress affects the transcription of augmentor α but not ALK, which can have functional ...
Laurent Gueissaz, Spyridon Sideromenos, Evgenii O. Tretiakov, Robert Schnell, Tibor Harkany   +4 more
wiley   +1 more source

Rare variants in single-minded 1 (SIM1) are associated with severe obesity [PDF]

, 2013
Single-minded 1 (SIM1) is a basic helix-loop-helix transcription factor involved in the development and function of the paraventricular nucleus of the hypothalamus. Obesity has been reported in Sim1 haploinsufficient mice and in a patient with a balanced
Adrienne E. Sullivan, Amanda Thompson, Anna M.G. Cali, Anne Raimondo, Daniel J. Peet, Elana Henning, Eleanor Wheeler, Elena G. Bochukova, Ema, Goldstone, I. Sadaf Farooqi, Ines Barroso, John B. Bruning, Julia M. Keogh, Mehul Dattani, Murray L. Whitelaw, Nick J. Wareham, Peter E. Clayton, Sadia Saeed, Shwetha Ramachandrappa, Soren Brage, Stephen O’Rahilly, Sumedha Garg, Victoria Trowse, Vippan Datta, Wharton, Whitelaw   +26 more
core   +1 more source

Hypothalamic POMC or MC4R deficiency impairs counterregulatory responses to hypoglycemia in mice

Molecular Metabolism, 2019
Objective: Life-threatening hypoglycemia is a major limiting factor in the management of diabetes. While it is known that counterregulatory responses to hypoglycemia are impaired in diabetes, molecular mechanisms underlying the reduced responses remain ...
Benjamin P. Tooke, Hui Yu, Jessica M. Adams, Graham L. Jones, Talisha Sutton-Kennedy, Lakshmi Mundada, Nathan R. Qi, Malcolm J. Low, Kavaljit H. Chhabra   +8 more
doaj   +1 more source

Melanocortin 4 receptors in autonomic neurons regulate thermogenesis and glycemia [PDF]

, 2015
SUMMARY Melanocortin 4 receptors (Mc4rs) are expressed by extra-hypothalamic neurons including cholinergic autonomic pre-ganglionic neurons. However, whether Mc4rs in these neurons are required to control energy and glucose homeostasis is unclear.
Berglund, Eric D., Deng, Zhuo, Elmquist, Joel K., Kong, Xingxing, Lee, Charlotte E., Lee, Syann, Liu, Tiemin, Lowell, Bradford B., Olson, David P., Scherer, Philipp E., Sohn, Jong-Woo, Vong, Linh, Williams, Kevin W.   +12 more
core   +1 more source

The Intersection of m6A Methylation and Immune Response in PCOS: A Bioinformatics Perspective

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
N6‐methyladenosine RNA methylation regulators are intricately linked with the development of polycystic ovary syndrome (PCOS) and may influence immune cell infiltration in affected individuals. This study enhances our understanding of the molecular interactions in PCOS and suggests potential biomarkers for diagnosis and targets for therapeutic ...
Wenting Xu, Lingli Shi, Aifang Lu, Lijuan Cui, Haiqing Qian, Jiahui Wang, Mengyu Tang, Lili Zhu, Lihong Wang   +8 more
wiley   +1 more source

Binding, thermodynamics, and selectivity of a non-peptide antagonist to the melanocortin-4 receptor [PDF]

, 2018
The melanocortin-4 receptor (MC4R) is a potential drug target for treatment of obesity, anxiety, depression, and sexual dysfunction. Crystal structures for MC4R are not yet available, which has hindered successful structure-based drug design.
Clark, Timothy, Heyder, Nicolas, Hildebrand, Peter W., Kleinau, Gunnar, Saleh, Noureldin, Scheerer, Patrick   +5 more
core   +2 more sources