• PTHR1
  • often called PTHR1) is a family group B G-protein-coupled receptor (GPCR) that regulates skeletal advancement bone tissue turnover and nutrient ion homeostasis. (researchdataservice.com)
  • Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor (PTHR1), due to one of three reported mutations (activating mutation). (wikipedia.org)
  • Blood levels of parathryoid hormone (PTH) are undetectable, but the mutation in the PTHR1 leads to auto-activation of the signaling as though the hormone PTH is present. (wikipedia.org)
  • Variance components analysis using the program ACT, correcting for proband-wise ascertainment, also showed evidence of linkage (p ≤0.05) at markers close to or within the candidate genes IL- 1α, PTHR1, IL-6, and COLIIA1/VDR. (ox.ac.uk)
  • GPCR
  • However, there is no significant sequence identity between these two GPCR families and the secretin-receptor family has its own characteristic 7TM signature. (wikipedia.org)
  • vitamin D receptors
  • Dimerization with retinoid X receptors promotes nuclear localization and subnuclear targeting of vitamin D receptors. (virginia.edu)
  • Vitamin D is characterized as a regulator of homeostasis of bone and mineral metabolism, but it can also provide nonskeletal actions because vitamin D receptors have been found in various tissues including the brain, prostate, breast, colon, pancreas, and immune cells. (scribd.com)
  • renal
  • Am J Physiol Renal Physiol, 2017 Mar 1. (nih.gov)
  • In most of the cases, it is associated with inactivating mutations of the renal arginine vasopressin V2 receptor leading to misfolding and intracellular retention of the receptor, causing the inability of patients to concentrate their urine in response to the antidiuretic hormone. (springer.com)
  • Nuclear
  • Lipopolysaccharide induces physical proximity between CD14 and toll-like receptor 4 (TLR4) prior to nuclear translocation of NF-kappa B. Jiang Q, Akashi S, Miyake K, Petty HR. (virginia.edu)
  • There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, in-frame and downstream of the initiator AUG codon, to give rise to nuclear forms of this hormone. (wikipedia.org)
  • 1996
  • Sagan S, Chassaing G, Pradier L, et al (1996) Tachykinin peptides affect differently the second messenger pathways after binding to CHO-expressed human NK-1 receptors. (springer.com)
  • 2002
  • Holloway AC, Qian H, Pipolo L, et al (2002) Side-chain substitutions within angiotensin II reveal different requirements for signaling, internalization, and phosphorylation of type 1A angiotensin receptors. (springer.com)
  • 2002 Oct;1(10):805-15. (virginia.edu)
  • Chronic Kidney
  • Adenomatous Colon Polyps in Diabetes: Increased Prevalence in Patients with Chronic Kidney Disease and Its Association with Parathyroid Hormone. (nih.gov)
  • Consistent with this, elevated FGF23 levels are associated with inflammatory markers as well as parathyroid hormone (PTH) in various disease states, including chronic kidney disease (CKD). (readbyqxmd.com)
  • agonist
  • Studies have been amassed in the past several years indicating that an agonist can conform a receptor into an activation state that is dependent upon an intrinsic property of the agonist usually based upon its chemical composition. (aspetjournals.org)
  • hydroxyl group
  • Because cholecalciferol already has one hydroxyl group, only two (1,25) are further specified in this nomenclature, but there are three (1,3,25-triol), as indicated in when calcitriol is used. (wikipedia.org)
  • Dimeric
  • Sequential inter- and intrasubunit rearrangements during activation of dimeric metabotropic glutamate receptor 1. (jove.com)
  • hereditary
  • Enchondromatosis, Multiple, Ollier Type, also known as enchondromatosis , is related to carpotarsal osteochondromatosis and hereditary multiple osteochondromatosis, type i , and has symptoms including anemia , platyspondyly and hemangioma . (malacards.org)
  • Hereditary factors Approximately 1 in 10 documented cases of hyperparathyroidism are a result of hereditary factors. (wikipedia.org)
  • MEN Type 1 is an autosomal dominant disorder and the most common hereditary form of hyperparathyroidism, affecting about 95% of genetic cases of OFC, and also tends to affect younger patients than other forms. (wikipedia.org)
  • muscarinic
  • A fluorescence resonance energy transfer-based M2 muscarinic receptor sensor reveals rapid kinetics of allosteric modulation. (jove.com)