Results 71 to 80 of about 60,692 (262)

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

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Identification of the minimal melanocyte-specific promoter in the melanocortin receptor 1 gene

Journal of Experimental & Clinical Cancer Research, 2008
Background The understanding of cutaneous pigmentation biology is relevant from the biologic and clinical point of view. The binding of α-melanocortin and its specific receptor, on the plasma membrane of melanin synthesising cells, plays a crucial role ...
Natali Pier, Picardo Mauro, Pascucci Barbara, Miccadei Stefania, Civitareale Donato   +4 more
doaj   +1 more source

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
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 role of hypothalamus-pituitary-adrenal (HPA)-like axis in inflammatory pilosebaceous disorders [PDF]

, 2020
Skin is the largest peripheral endocrine organ and functions as a hormone target and endocrine gland. A cutaneous hypothalamus-pituitary-adrenal (HPA)-like axis enables the skin to respond to stress and regulates its steroidogenic activity.
Clark, Ashley K, Saric-Bosanac, Suzana, Shi, Vivian Y, Sivamani, Raja K   +3 more
core  

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

PD-1+ melanocortin receptor dependent-Treg cells prevent autoimmune disease [PDF]

Scientific Reports, 2019
AbstractExperimental autoimmune uveoretinitis (EAU) is a mouse model of human autoimmune uveitis marked by ocular autoantigen-specific regulatory immunity in the spleen. The melanocortin 5 receptor (MC5r) and adenosine 2 A receptor (A2Ar) are required for induction of post-EAU regulatory T cells (Tregs) which provide resistance to EAU.
Fauziyya Muhammad, Dawei Wang, Alyssa Montieth, Stacey Lee, Janine Preble, C. Stephen Foster, Theresa A. Larson, Kai Ding, Justin D. Dvorak, Darren J. Lee   +9 more
openaire   +2 more sources

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

Nucleotide diversity and population differentiation of the Melanocortin 1 Receptor gene, MC1R

BMC Genetics, 2008
Background The melanocortin 1 receptor gene (MC1R) is responsible for normal pigment variation in humans and is highly polymorphic with numerous population-specific alleles. Some MC1R variants have been associated with skin cancer risk.
Peris Ketty, Fargnoli Maria, Mirabello Lisa, Goldstein Alisa M, Gerstenblith Meg R, Savage Sharon A, Landi Maria   +6 more
doaj   +1 more source