Results 71 to 80 of about 58,672 (263)

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
core   +1 more source

Inconsistent Transcriptomic Responses to Hexabromocyclododecane in Japanese Quail: A Comparative Analysis of Results From Four Different Study Designs

Environmental Toxicology and Chemistry, EarlyView.
Abstract Efforts to use transcriptomics for toxicity testing have classically relied on the assumption that chemicals consistently produce characteristic transcriptomic signatures that are reflective of their mechanism of action. However, the degree to which transcriptomic responses are conserved across different test methodologies has seldom been ...
Paul Béziers, Elena Legrand, Emily Boulanger, Niladri Basu, Jessica D. Ewald, Paula Henry, Markus Hecker, Jianguo Xia, Natalie Karouna‐Renier, Doug Crump, Jessica Head   +10 more
wiley   +1 more source

The Melanocortin-3 Receptor Is Required for Entrainment to Meal Intake [PDF]

The Journal of Neuroscience, 2008
Entrainment of anticipatory activity and wakefulness to nutrient availability is a poorly understood component of energy homeostasis. Restricted feeding (RF) paradigms with a periodicity of 24 h rapidly induce entrainment of rhythms anticipating food presentation that are independent of master clocks in the suprachiasmatic nucleus (SCN) but do require ...
Gregory M, Sutton, Diego, Perez-Tilve, Ruben, Nogueiras, Jidong, Fang, Jason K, Kim, Roger D, Cone, Jeffrey M, Gimble, Matthias H, Tschöp, Andrew A, Butler   +8 more
openaire   +2 more sources

New mutations at the imprinted Gnas cluster show gene dosage effects of Gsα in postnatal growth and implicate XLαs in bone and fat metabolism, but not in suckling [PDF]

, 2012
The imprinted Gnas cluster is involved in obesity, energy metabolism, feeding behavior, and viability. Relative contribution of paternally expressed proteins XLαs, XLN1, and ALEX or a double dose of maternally expressed Gsα to phenotype has not been ...
Abramowitz J, Balthasar N, Bamshad M, Bartness TJ, Bastepe M, Bastepe M, Baxendale RW, Bunting M, Castrop H, Cattanach BM, Cattanach BM, Chen M, Chen M, Chen M, Chotalia M, Crawford JA, de Bovis B, de Paula FJ, Ducy P, Elefteriou F, Friedman JM, Fu L, Fukao M, Germain-Lee EL, Hayward BE, Holmes R, Ivanova E, Kawai M, Kaya AI, Kehlenbach RH, Kelly ML, Kelsey G, Klemke M, Klemke M, Kublaoui BM, Lam DD, Liu J, Maffei M, Moore T, Oswal A, Pasolli HA, Pasolli HA, Peters J, Peters J, Peters J, Plagge A, Plagge A, Sakamoto A, Sakamoto A, Schmidt-Nielsen K, Shin JY, Shrestha YB, Skinner JA, Sleutels F, Storck T, Weinstein LS, Weinstein LS, Williamson CM, Williamson CM, Williamson CM, Wroe SF, Xie T, Yadav VK, Youngstrom TG, Yu S, Yu S   +65 more
core   +1 more source

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

Pro-Opiomelanocortin and Melanocortin Receptor 3 and 4 Mutations in Genetic Obesity

Biomolecules
Genetic obesity results from loss-of-function mutations, including those affecting the leptin–melanocortin system, which regulates body weight. Pro-opiomelanocortin (POMC)-derived neurohormones act as ligands for melanocortin receptors (MCRs), regulating
Tulin Yanik, Seyda Tugce Durhan
doaj   +1 more source

GLP-1 Receptor Agonist Treatment in Morbid Obesity and Type 2 Diabetes Due to Pathogenic Homozygous Melanocortin-4 Receptor Mutation: A Case Report

Cell Reports Medicine, 2020
Summary: Individuals with obesity due to pathogenic heterozygous melanocortin 4 receptor (MC4R) mutations can be treated efficiently with the glucagon-like peptide-1 receptor agonist (GLP-1 RA) liraglutide.
Eva W. Iepsen, Christian T. Have, Simon Veedfald, Sten Madsbad, Jens J. Holst, Niels Grarup, Oluf Pedersen, Ivan Brandslund, Jens-Christian Holm, Torben Hansen, Signe S. Torekov   +10 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

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Significance of the Melanocortin 1 and Endothelin B Receptors in Melanocyte Homeostasis and Prevention of Sun-Induced Genotoxicity

Frontiers in Genetics, 2016
The membrane bound melanocortin 1 receptor (MC1R), and the endothelin B receptor (ENDBR) are two G-protein coupled receptors that play important roles in constitutive regulation of melanocytes and their response to ultraviolet radiation (UVR), the main ...
Zalfa A. Abdel-Malek, Viki Swope
doaj   +1 more source