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Best Practice & Research. Clinical Endocrinology & Metabolism

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https://www.readbyqxmd.com/read/29678289/pathophysiology-of-melanocortin-receptors-and-their-accessory-proteins
#1
REVIEW
T V Novoselova, L F Chan, A J L Clark
The melanocortin receptors (MCRs) and their accessory proteins (MRAPs) are involved in regulation of a diverse range of endocrine pathways. Genetic variants of these components result in phenotypic variation and disease. The MC1R is expressed in skin and variants in the MC1R gene are associated with ginger hair color. The MC2R mediates the action of ACTH in the adrenal gland to stimulate glucocorticoid production and MC2R mutations result in familial glucocorticoid deficiency (FGD). MC3R and MC4R are involved in metabolic regulation and their gene variants are associated with severe pediatric obesity, whereas the function of MC5R remains to be fully elucidated...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678288/internalization-of-g-protein-coupled-receptors-implication-in-receptor-function-physiology-and-diseases
#2
REVIEW
Davide Calebiro, Amod Godbole
G protein-coupled receptors (GPCRs) are the largest family of membrane receptors and mediate the effects of numerous hormones and neurotransmitters. The nearly 1000 GPCRs encoded by the human genome regulate virtually all physiological functions and are implicated in the pathogenesis of prevalent human diseases such as thyroid disorders, hypertension or Parkinson's disease. As a result, 30-50% of all currently prescribed drugs are targeting these receptors. Once activated, GPCRs induce signals at the cell surface...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678287/novel-mechanisms-of-g-protein-coupled-receptors-functions-at-1-angiotensin-receptor-acts-as-a-signaling-hub-and-focal-point-of-receptor-cross-talk
#3
REVIEW
András D Tóth, Gábor Turu, László Hunyady, András Balla
AT1 angiotensin receptor (AT1 R), a prototypical G protein-coupled receptor (GPCR), is the main receptor, which mediates the effects of the renin-angiotensin system (RAS). AT1 R plays a crucial role in the regulation of blood pressure and salt-water homeostasis, and in the development of pathological conditions, such as hypertension, heart failure, cardiovascular remodeling, renal fibrosis, inflammation, and metabolic disorders. Stimulation of AT1 R leads to pleiotropic signal transduction pathways generating arrays of complex cellular responses...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678286/g-protein-coupled-receptors-gpcrs-in-the-treatment-of-diabetes-current-view-and-future-perspectives
#4
REVIEW
Guido Sebastiani, Elena Ceccarelli, Maria Grazia Castagna, Francesco Dotta
G-protein coupled receptors (GPCRs) represent the largest receptor family in the genome and are of great interest for the design of novel drugs in a wide variety of diseases including neurologic disorders, obesity and Type 2 diabetes mellitus. The latter is a chronic disease characterized by insulin resistance and impaired insulin secretion, affecting >400 million patients worldwide. Here we provide an overview on: a) The molecular basis of GPCR signalling and of its involvement in the regulation of insulin secretion and of glucose homeostasis; b) the role of GPCRs in type 2 diabetes pathophysiology and as therapeutic targets of current and future glucose-lowering drugs...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678285/pharmacogenetics-of-g-protein-coupled-receptors-variants-fsh-receptor-and-infertility-treatment
#5
REVIEW
Daniele Santi, Francesco Potì, Manuela Simoni, Livio Casarini
Infertility treatment may represent a paradigmatic example of precision medicine. Follicle-stimulating hormone (FSH) has been proposed as a valuable therapeutic option both in males and in females, even if a standardized approach is far to be established. To date, several genetic mutations as well as polymorphisms have been demonstrated to significantly affect the pathophysiology of FSH-FSH receptor (FSHR) interaction, although the underlying molecular mechanisms remain unclear. This review aims to highlight possible aspects of FSH therapy that could benefit from a pharmacogenetic approach, providing an up-to-date overview of the variability of the response to FSH treatment in both sexes...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678284/aberrant-g-protein-coupled-hormone-receptor-in-adrenal-diseases
#6
REVIEW
Matthieu St-Jean, Nada El Ghorayeb, Isabelle Bourdeau, André Lacroix
The regulation of cortisol or aldosterone production when ACTH of pituitary origin or the renin-angiotensin systems are suppressed in primary adrenal Cushing's syndrome or in primary aldosteronism is exerted by diverse genetic and molecular mechanisms. In addition to recently identified mutations in various genes implicated in the cyclic AMP or ion channel pathways, steroidogenesis is not really autonomous as it is frequently regulated by the aberrant adrenocortical expression of diverse hormone receptors, particularly G-protein coupled hormone receptors (GPCR) which can substitute for the normal function of ACTH or angiotensin-II...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678283/thyrotropin-receptor-still-much-to-be-learned-from-the-patients
#7
REVIEW
Dr Claire Briet, Valentine Suteau-Courant, Mathilde Munier, Prof Patrice Rodien
In the absence of crystal available for the full-length thyrotropin receptor, knowledge of its structure and functioning has benefitted from the identification and characterization of mutations in patients with various thyroid dysfunctions. The characterization of activating mutations has contributed to the elaboration of a model involving the extracellular domain of the receptor as an inverse tethered agonist which, upon binding of the ligand, relieves the transmembrane domain from an inhibiting interaction and activates it...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678282/multiple-hormone-resistance-and-alterations-of-g-protein-coupled-receptors-signaling
#8
REVIEW
Mantovani Giovanna, Elli Francesca Marta
Metabolic disorders deriving from the non-responsiveness of target organs to hormones, which manifest clinically similar to the deficiency of a given hormone itself, derive from molecular alterations affecting specific hormone receptors. Pseudohypoparathyroidism (PHP) and related disorders exemplify an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of cAMP signaling pathway, or, as more recently described, of downstream effector proteins of the same pathway, such as PKA regulatory subunit 1A (R1A) and phosphodyestarase type 4D (PDE4D)...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678281/an-orphan-g-protein-coupled-receptor-causes-human-gigantism-and-or-acromegaly-molecular-biology-and-clinical-correlations
#9
REVIEW
Giampaolo Trivellin, Laura C Hernández-Ramírez, Jeremy Swan, Constantine A Stratakis
X-linked acrogigantism (X-LAG) is a recently described form of familial or sporadic pituitary gigantism characterized by very early onset GH and IGF-1 excess, accelerated growth velocity, gigantism and/or acromegaloid features. Germline or somatic microduplications of the Xq26.3 chromosomal region, invariably involving the GPR101 gene, constitute the genetic defect leading to X-LAG. GPR101 encodes a class A G protein-coupled receptor that activates the 3',5'-cyclic adenosine monophosphate signaling pathway...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29678280/the-kisspeptin-receptor-a-key-g-protein-coupled-receptor-in-the-control-of-the-reproductive-axis
#10
REVIEW
Delphine Franssen, Manuel Tena-Sempere
The kisspeptin receptor, Kiss1R, also known as Gpr54, is a G protein-coupled receptor (GPCR), deorphanized in 2001, when it was recognized as canonical receptor for the Kiss1-derived peptides, kisspeptins. In 2003, inactivating mutations of Kiss1R gene were first associated to lack of pubertal maturation and hypogonadotropic hypogonadism in humans and rodents. These seminal findings pointed out the previously unsuspected, essential role of Kiss1R and its ligands in control of reproductive maturation and function...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29549961/lipids-in-human-milk
#11
REVIEW
Hans Demmelmair, Berthold Koletzko
Fat is the main energy providing component in human milk and comprising a complex mixture of different lipid species, with quantitative dominance of triglycerides. After elucidating the fatty acid composition, more recent research has looked at influencing factors and the importance of specific lipids. Here we review quantitative aspects of maternal metabolism which contribute to the milk fatty acid composition, especially considering essential fatty acids and their long chain polyunsaturated derivatives. In this context studies with stable isotopes have indicated the importance of maternal body pools for mediating the effects of diet on milk composition...
January 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29549960/analytical-considerations-and-general-diagnostic-and-therapeutic-ramifications-of-milk-hormones-during-lactation
#12
REVIEW
Carol L Wagner, John E Baatz, Danforth Newton, Bruce W Hollis
In this review, we will discuss the changes that occur in the mammary gland from pregnancy to lactation and the issues surrounding the analysis of circulating and milk hormones during the stages of lactogenesis. There is a cascade of events that must occur to achieve milk synthesis, milk ejection, and successful transfer to the breastfeeding infant. The adequacy and success of this process is no small measure and the assessment of milk production, the hormones involved in this process and the ability to properly diagnose conditions and causes of low milk supply are critical for the health and well-being of the mother-infant breastfeeding dyad...
January 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29549959/cytokines-in-milk-and-the-role-of-tgf-beta
#13
REVIEW
Julia Brenmoehl, Daniela Ohde, Elisa Wirthgen, Andreas Hoeflich
Cytokines are required for normal growth and development of the mammary gland and TGF-β prominently represents an established effector of apoptosis, e.g., during involution of the mammary gland. By the control of intracellular signaling pathways, including JAK/STAT, MAPK, PI-3K, and NF-κB, cytokines efficiently regulate cell proliferation and inflammation in the breast. Therefore, cytokines are discussed also in a context of malignant mammary growth. As a group of tissue hormones produced by somatic cells or by cells from the immune system, cytokines are defined by their immunomodulatory potential...
January 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29549958/vitamin-d-and-calcium-in-the-human-breast-milk
#14
REVIEW
Yoon Ju Bae, Juergen Kratzsch
Vitamin D and calcium in the human milk is essential for the growth and the prevention of rickets in infants. In this review, we will discuss the physiology and the functions of vitamin D and calcium and the mechanisms of vitamin D and calcium transfer into the human breast milk. This review describes the recommended intake of vitamin D and calcium for infants and lactating mothers and the factors influencing the content of vitamin D and calcium in human milk. Furthermore, the measurement of vitamin D compounds and calcium in human breast milk is described in this review...
January 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29549957/adipokines-in-human-breast-milk
#15
REVIEW
Juergen Kratzsch, Yoon Ju Bae, Wieland Kiess
The review describes the molecular characteristics of so far detected breast milk adipokines and ranks their breast milk level compared to the respective levels in maternal and infant blood. Moreover, analytical knowledge for measurements of breast milk adipokines will be delineated. Next, we summarized data about two main potential influencing factors on adipokine concentration in breast milk, maternal weight and pasteurization of milk. Finally, associations between adipokines in breast milk and weight gain in infants as well as the putative mechanisms for effects of breast milk adipokines on food intake and weight gain in later life will debated...
January 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29549956/thyrotropic-hormones
#16
REVIEW
Meera Mallya, Amanda L Ogilvy-Stuart
Thyroid hormones are crucial for normal cognition and neurodevelopment in children. The introduction of the screening programs for congenital hypothyroidism has decreased the incidence of untreated congenital hypothyroidism. As maternal thyroid disease is common, and may impact on thyroid gland development and function in the fetus, optimal management is crucial. This review discusses thyroid function and the impact of maternal thyroid disease on the fetus and neonate, as well as the influence of thyroid hormones, thyroid antibodies and the excretion of thyroid medication into breast milk on infant thyroid function...
January 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29549955/hormones-in-milk-new-directions
#17
EDITORIAL
Andreas Hoeflich, Wieland Kiess
No abstract text is available yet for this article.
January 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29224669/circadian-aspects-of-adipokine-regulation-in-rodents
#18
REVIEW
Etienne Challet
Most hormones display daily fluctuations of secretion during the 24-h cycle. This is also the case for adipokines, in particular the anorexigenic hormone, leptin. The temporal organization of the endocrine system is principally controlled by a network of circadian clocks. The circadian network comprises a master circadian clock, located in the suprachiasmatic nucleus of the hypothalamus, synchronized to the ambient light, and secondary circadian clocks found in various peripheral organs, such as the adipose tissues...
December 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29224668/circadian-clock-gastrointestinal-peptide-interaction-in-peripheral-tissues-and-the-brain
#19
REVIEW
Dominic Landgraf, Anne-Marie Neumann, Henrik Oster
Food intake and sleep are two mutually exclusive behaviors and both are normally confined to opposing phases of the diurnal cycle. The temporal coordination of behavior and physiology along the 24-h day-night cycle is organized by a network of circadian clocks that orchestrate transcriptional programs controlling cellular physiology. Many of the peptide hormones of the gastrointestinal tract are not only secreted in a circadian fashion, they can also affect circadian clock function in peripheral metabolic tissues and the brain, thus providing metabolic feedback to metabolic and neurobehavioral circuits...
December 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29224667/the-hormone-melatonin-animal-studies
#20
REVIEW
P Pevet, P Klosen, M P Felder-Schmittbuhl
The Melatonin (MLT), secreted rhythmically by the pineal, is an efferent hormonal signal of the circadian clock. MLT presents overall pleitropic effects but it is the role of MLT as a hormonal circadian signal which is the best documented. MLT-receptors are present in numerous structures/organs and the MLT is now considered as an endogenous synchronizer within the circadian system. The presence of MLT-receptors within the circadian clock, explains that exogenous MLT is a chronobiotic drug. Trials in humans, have confirmed the efficacy of MLT in circadian rhythm disorders...
December 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
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