Results 31 to 40 of about 10,319 (179)

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

MC4R Gene Polymorphisms Interact With the Urbanized Living Environment on Obesity: Results From the Yi Migrant Study

Frontiers in Genetics, 2022
Objectives: This study aimed to determine the association of MC4R gene polymorphisms (rs17782313 and rs12970134) and urbanized living environment and the gene–environment interaction with obesity in Yi people in China.Methods: A 1:2 frequency-matched ...
Ye Wang, Li Pan, Shaoping Wan, Wuli Yihuo, Fang Yang, Huijing He, Zheng Li, Zhengping Yong, Guangliang Shan   +8 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Monitoring pharmacodynamic and molecular drug targets in liquid biopsy: Exploratory study in liver cancer with modelling of EGFR Receptor engagement

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Liquid biopsy is minimally invasive (compared with tissue biopsy) and has previously been used to generate systems data regarding drug elimination via hepatic enzymes and transporters. This study extends quantitative assessment of systems parameters in liquid biopsy to pharmacodynamic (PD) and disease markers relevant to cancer development
Zubida M. Al‐Majdoub, Armin Sepp, Amin Rostami‐Hodjegan, Brahim Achour   +3 more
wiley   +1 more source

The Human MC4R Promoter [PDF]

Diabetes, 2003
Heterozygous mutations in the coding sequence of the serpentine melanocortin 4 receptor (MC4R) are the most frequent genetic cause of severe human obesity. Since haploinsufficiency has been proposed as a causal mechanism of obesity associated with these mutations, reduction in gene transcription caused by mutations in the transcriptionally essential ...
Cecile Lubrano-Berthelier, Martha Cavazos, Catherine Le Stunff, Kurt Haas, Astrid Shapiro, Sumei Zhang, Pierre Bougneres, Christian Vaisse   +7 more
openaire   +1 more source

Cloning, distribution, and effects of growth regulation of MC3R and MC4R in red crucian carp (Carassius auratus red var.)

Frontiers in Endocrinology
BackgroundMelanocortin-3 and -4 receptors (MC3R and MC4R), G protein-coupled receptors, play vital roles in the regulation of energy homeostasis. To understand the functions of mc3r and mc4r in the energy homeostasis of red crucian carp (Carassius ...
Lu Huang, Xin Deng, Xiangqiong Yang, Zhong Tang, Siyu Fan, Zhifeng Zhou, Min Tao, Shaojun Liu   +7 more
doaj   +1 more source

Activation of melanocortin receptor 4 with RO27-3225 attenuates neuroinflammation through AMPK/JNK/p38 MAPK pathway after intracerebral hemorrhage in mice

Journal of Neuroinflammation, 2018
Background Neuroinflammation plays an important role in the pathogenesis of intracerebral hemorrhage (ICH)-induced secondary brain injury. Activation of melanocortin receptor 4 (MC4R) has been shown to elicit anti-inflammatory effects in many diseases ...
Shengpan Chen, Lianhua Zhao, Prativa Sherchan, Yan Ding, Jing Yu, Derek Nowrangi, Jiping Tang, Ying Xia, John H. Zhang   +8 more
doaj   +1 more source

Pharmacogenomics of dolutegravir: A scoping review of evidence, gaps and clinical implications

British Journal of Clinical Pharmacology, EarlyView.
Dolutegravir underpins modern first‐ and second‐line HIV treatment regimens; however, interindividual variability in its disposition and tolerability presents challenges for optimal use. This scoping review mapped current evidence on the pharmacogenomics of dolutegravir, focusing on pharmacokinetics and pharmacodynamics, and methodological limitations ...
Ronald Kiguba, Mishael Ssesanga, Munir Pirmohamed   +2 more
wiley   +1 more source

Tonic ubiquitination of the central body weight regulator melanocortin receptor 4 (MC4R) promotes its constitutive exit from cilia.

PLoS Biology
The G protein-coupled receptor (GPCR) melanocortin receptor 4 (MC4R) is an essential regulator of body weight homeostasis. MC4R is unusual among GPCRs in that its activity is regulated by 2 opposing physiological ligands, the agonist ⍺-MSH and the ...
Irene Ojeda-Naharros, Tirthasree Das, Ralph A Castro, J Fernando Bazan, Christian Vaisse, Maxence V Nachury   +5 more
doaj   +1 more source

Overexpression of melanocortin 2 receptor accessory protein 2 (MRAP2) in adult paraventricular MC4R neurons regulates energy intake and expenditure

Molecular Metabolism, 2018
Objective: Melanocortin 2 receptor accessory protein 2 (MRAP2) has a critical role in energy homeostasis. Although MRAP2 has been shown to regulates a number of GPCRs involved in metabolism, the key neurons responsible for the phenotype of gross obesity ...
Giuseppe Bruschetta, Jung Dae Kim, Sabrina Diano, Li F. Chan   +3 more
doaj   +1 more source