Results 101 to 110 of about 40,887 (228)

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

JPGN Reports, Volume 7, Issue 2, Page 242-246, May 2026.
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

Therapeutic Effects of Stimulating the Melanocortin Pathway in Regulating Ocular Inflammation and Cell Death

Biomolecules
Alpha-melanocyte-stimulating hormone (α-MSH) and its binding receptors (the melanocortin receptors) play important roles in maintaining ocular tissue integrity and immune homeostasis.
Shudan Wang, Francesca Kahale, Amirreza Naderi, Pier Luigi Surico, Jia Yin, Thomas Dohlman, Yihe Chen, Reza Dana   +7 more
doaj   +1 more source

Genetic variation in the SIM1 locus is associated with erectile dysfunction. [PDF]

, 2018
Erectile dysfunction affects millions of men worldwide. Twin studies support the role of genetic risk factors underlying erectile dysfunction, but no specific genetic variants have been identified. We conducted a large-scale genome-wide association study
Ahituv, Nadav, Hoffmann, Thomas J, Hotaling, James M, Jarvik, Gail P, Jorgenson, Eric, Matharu, Navneet, Palmer, Melody R, Shan, Jun, Thai, Khanh K, Van Den Eeden, Stephen K, Wessells, Hunter, Yin, Jie, Zhou, Xujia   +12 more
core  

Vagal Blocking for Obesity Control : a Possible Mechanism-Of-Action [PDF]

, 2016
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, Barrett, Perry, Ben-Menachem, Elinor, Cassie, Nikki, Chen, Duan, Dickson, Suzanne, Holst, Jens, Johannessen, Helene, Kodama, Yosuke, Kulseng, Bård, Rehfeld, Jens, Revesz, David, Skibicka, Karolina P, van der Plasse, Geoffrey, Zhao, Chun-Mei   +14 more
core   +1 more source

Enteric Nervous System Damage by Food Contaminants: A Pathway to Neurodegeneration?

Comprehensive Reviews in Food Science and Food Safety, Volume 25, Issue 3, May 2026.
ABSTRACT The enteric nervous system (ENS), a key component of the gut–brain axis, has emerged as a critical player in the pathogenesis of Parkinson's disease (PD). It is the first neural system exposed to food contaminants (FCs)—a diverse group of ubiquitous toxic compounds fortuitously present in food derived from production, processing, storage, or ...
Helena Ramos, Ana Margarida Araújo, Isabel M. P. L. V. O. Ferreira, Miguel A. Faria   +3 more
wiley   +1 more source

Folding, misfolding, and regulation of intracellular traffic of G protein‐coupled receptors involved in the hypothalamic–pituitary–gonadal axis

Andrology, Volume 14, Issue 4, Page 978-991, May 2026.
Abstract Background G protein‐coupled receptors are a large and functionally diverse family of membrane receptors involved in a number of biological processes. Like other proteins, G protein‐coupled receptors need to be properly folded in order to traffic to the plasma membrane and interact with agonist.
Alfredo Ulloa‐Aguirre, Ross C. Anderson, Teresa Zariñán, Rubén Gutiérrez‐Sagal, Eduardo Jardón‐Valadez, Claire L. Newton   +5 more
wiley   +1 more source

Divergent effects of central melanocortin signalling on fat and sucrose preference in humans

Nature Communications, 2016
Hypothalamic melanocortin-4-receptors (MC4R) regulate food preference in rodents, but their role in humans is unclear. Here, the authors perform food preference and liking tests in humans with MC4R mutations and find that they prefer fatty food more, but
Agatha A. van der Klaauw, Julia M. Keogh, Elana Henning, Cheryl Stephenson, Sarah Kelway, Victoria M. Trowse, Naresh Subramanian, Stephen O’Rahilly, Paul C. Fletcher, I. Sadaf Farooqi   +9 more
doaj   +1 more source

The blue lizard spandrel and the island syndrome

BMC Evolutionary Biology, 2010
Background Many small vertebrates on islands grow larger, mature later, lay smaller clutches/litters, and are less sexually dimorphic and aggressive than their mainland relatives. This set of observations is referred to as the 'Island Syndrome'.
Monti Daria M, Carotenuto Francesco, Rippa Daniela, Polese Gianluca, Turano Mimmo, Guarino Fabio M, Raia Pasquale, Cardi Manuela, Fulgione Domenico   +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

Exploring the impact of Cabotegravir‐Rilpivirine long‐acting on weight gain, body composition and quality of life in adults living with HIV

HIV Medicine, Volume 27, Issue 5, Page 727-739, May 2026.
Abstract Introduction Long‐acting injectable antiretroviral therapy (ART) with Cabotegravir (CAB) and Rilpivirine (RPV) offers an alternative to daily oral regimens, improving adherence and patient satisfaction. However, its impact on body composition and metabolism remains underexplored.
Andrea De Vito, Andrea Marongiu, Antonella Cano, Mariangela Puci, Agnese Colpani, Susanna Maria Nuvoli, Maria Grazia Catte, Giulia Moi, Maria Antonietta Deledda, Sergio Uzzau, Giovanni Sotgiu, Franca Deriu, Angela Spanu, Giordano Madeddu   +13 more
wiley   +1 more source