نتایج جستجو برای: mc2r

تعداد نتایج: 128  

Journal: :Molecular endocrinology 2013
Maria Josep Agulleiro Raúl Cortés Begoña Fernández-Durán Sandra Navarro Raúl Guillot Eirini Meimaridou Adrian J L Clark José Miguel Cerdá-Reverter

Melanocortin 2 receptor (MC2R) is the only canonical ACTH receptor. Its functional expression requires the presence of an accessory protein, known as melanocortin receptor 2 accessory protein 1 (MRAP1). The vertebrate genome exhibits a paralogue gene called MRAP2, which is duplicated in zebrafish (MRAP2a and MRAP2b), although its function remains unknown. In this paper, we demonstrate that MRAP...

Journal: :European journal of medical genetics 2015
Omid Jazayeri Xuanzhu Liu Cleo C van Diemen Willie M Bakker-van Waarde Birgit Sikkema-Raddatz Richard J Sinke Jianguo Zhang Conny M A van Ravenswaaij-Arts

Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by low levels of cortisol despite high adrenocorticotropin (ACTH) levels, due to the reduced ability of the adrenal cortex to produce cortisol in response to stimulation by ACTH. FGD is a heterogeneous disorder for which causal mutations have been identified in MC2R, MRAP, MCM4 and TXNRD2. Also mutations i...

Journal: :Journal of Biosciences and Medicines 2016

Journal: :Molecular and cellular endocrinology 2011
Sadani N Cooray Adrian J L Clark

The melanocortin receptor family consists of 5 members which belong to the GPCR superfamily. Their specific ligands, the melanocortins are peptide hormones which are formed by the proteolytic cleavage of the proopiomelanocortin (POMC) protein. It is now recognised that certain GPCRs require accessory proteins for their function. Like these GPCRs the melanocortin receptor family is also known to...

2010
Marc Simard Mélissa Côté Pierre R Provost Yves Tremblay

BACKGROUND Lung maturation is modulated by several factors, including glucocorticoids. Expression of hypothalamic-pituitary-adrenal (HPA) axis-related components, with proposed or described local regulatory systems analogous to the HPA axis, was reported in peripheral tissues. Here, HPA axis-related genes were studied in the mouse developing lung during a period overlapping the surge of surfact...

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