Results 91 to 100 of about 1,970 (167)

Imprinting genes associated with endometriosis [PDF]

Much work has been carried out to investigate the genetic and epigenetic basis of endometriosis and proposed that endometriosis has been described as an epigenetic disease. The purpose of this study was to extract the imprinting genes that are associated
Kobayashi, Hiroshi
core   +1 more source

Obesity‐associated mutant melanocortin‐4 receptors with normal Gαs coupling frequently exhibit other discoverable pharmacological and biochemical defects [PDF]

, 2019
Mutations in the melanocortin‐4 receptor (MC4R) are the most common cause of early syndromic obesity known. Most of these mutations result in a loss of protein expression, α‐melanocyte‐stimulating hormone binding, receptor trafficking or coupling to the ...
Cone, Roger D., Fowler, Katelyn, Gillyard, Taneisha, Williams, Savannah Y.   +3 more
core   +1 more source

Variant reclassification over time decreases the level of diagnostic uncertainty in monogenic obesity: Experience from two centres

Pediatric Obesity, Volume 19, Issue 12, December 2024.
Summary Background The diagnosis of monogenic obesity is burdened by frequent variants of uncertain significance (VUS). We describe our real‐life approach of variant reassessment over time and we assess whether inconclusive variants are decreasing in monogenic obesity.
Anita Morandi, Elena Fornari, Massimiliano Corradi, Giuseppina Rosaria Umano, Francesca Olivieri, Claudia Piona, Alice Maguolo, Carola Panzeri, Federica Emiliani, Grazia Cirillo, Paolo Cavarzere, Emanuele Miraglia Del Giudice, Claudio Maffeis   +12 more
wiley   +1 more source

Trapped fat: Obesity pathogenesis as an intrinsic disorder in metabolic fuel partitioning

Obesity Reviews, Volume 25, Issue 10, October 2024.
Summary Our understanding of the pathophysiology of obesity remains at best incomplete despite a century of research. During this time, two alternative perspectives have helped shape thinking about the etiology of the disorder. The currently prevailing view holds that excessive fat accumulation results because energy intake exceeds energy expenditure ...
Mark I. Friedman, Thorkild I. A. Sørensen, Gary Taubes, Jens Lund, David S. Ludwig   +4 more
wiley   +1 more source

Metabolic insights from a GHSR-A203E mutant mouse model [PDF]

, 2020
Objective: Binding of ghrelin to its receptor, growth hormone secretagogue receptor (GHSR), stimulates GH release, induces eating, and increases blood glucose. These processes may also be influenced by constitutive (ghrelin-independent) GHSR activity, as
He, Zhenyan, Hedegaard, Morten A., Holst, Birgitte, Jin, Chunyu, Mani, Bharath K., Martinez Damonte, Valentina, Metzger, Nathan P., Nybo, Maja, Osborne-Lawrence, Sherri, Paula Cornejo, Maria, Perello, Mario, Petersen, Natalia, Raingo, Jesica, Rodriguez, Juan, Roman Mustafa, Emilio, Torz, Lola J., Williams, Kevin W., Zigman, Jeffrey M.   +17 more
core   +2 more sources

Medical semiology of patients with monogenic obesity: A systematic review

Obesity Reviews, Volume 25, Issue 10, October 2024.
Summary Patients with monogenic obesity display numerous medical features on top of hyperphagic obesity, but no study to date has provided an exhaustive description of their semiology. Two reviewers independently conducted a systematic review of MEDLINE, Embase, and Web of Science Core Collection databases from inception to January 2022 to identify ...
Emeline Renard, Ariane Thevenard‐Berger, David Meyre   +2 more
wiley   +1 more source

Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin‐melanocortin pathway: A systematic review

Obesity Reviews, Volume 25, Issue 8, August 2024.
Summary The recent development of next‐generation sequencing (NGS) technologies has led to an increase of mutation screening reports of monogenic obesity genes in diverse experimental designs. However, no study to date has summarized their findings. Two reviewers independently conducted a systematic review of MEDLINE, Embase, and Web of Science Core ...
Sonia Dosda, Emeline Renard, David Meyre
wiley   +1 more source

RAMP and MRAP accessory proteins have selective effects on expression and signalling of the CB1, CB2, GPR18 and GPR55 cannabinoid receptors

British Journal of Pharmacology, Volume 181, Issue 14, Page 2212-2231, July 2024.
Background and Purpose Receptor activity‐modifying proteins (RAMPs) and melanocortin receptor accessory proteins (MRAPs) modulate expression and signalling of calcitonin and melanocortin GPCRs. Interactions with other GPCRs have also been reported. The cannabinoid receptors, CB1 and CB2, and two putative cannabinoid receptors, GPR18 and GPR55, exhibit ...
Nathaniel A. K. Glenn, David B. Finlay, Emma R. Carruthers, Kathleen G. Mountjoy, Christopher S. Walker, Natasha L. Grimsey   +5 more
wiley   +1 more source

Pharmacological properties of whale shark (Rhincodon typus) melanocortin-2 receptor and melancortin-5 receptor: Interaction with MRAP1 and MRAP2

General and Comparative Endocrinology, 2020
In the current study, the whale shark (ws; Rhincodon typus) melanocortin-2 receptor (MC2R) co-expressed with wsMRAP1 in Chinese Hamster Ovary (CHO) Cells could be stimulated in a dose dependent manner by ACTH(1-24) with an EC50 of 2.6 × 10-10 M ± 9.7 × 10-11. When the receptor was expressed alone, stimulation was only observed at [10-6 M]. A comparable
Brianne E, Hoglin, Marin, Miner, Robert M, Dores   +2 more
openaire   +2 more sources

6789 Do Obesity-Associated MRAP2 Variants Modulate MC4R and GHSR Signaling? [PDF]

J Endocr Soc
Abstract Disclosure: A.V. Rodriguez Rondon: None. F. Volker: None. M.S. Welling: None. C. de Groot: None. M.M. van Haelst: None. E.L. van den Akker: None. E.F. van Rossum: None. P.J. Delhanty: None. J.A. Visser: None. Melanocortin 2 receptor accessory protein 2 (MRAP2) is a membrane-bound protein expressed on hypothalamic ...
Rondon, Alejandra Virginia Rodriguez, Volker, Femke, Welling, Mila Sofie, de Groot, Corjan, van Haelst, Mieke M, van den Akker, Erica L T, van Rossum, Elisabeth F C, Delhanty, Patric John, Visser, Jenny A   +8 more
europepmc   +2 more sources