Results 31 to 40 of about 2,933 (162)

Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance

open access: yesMolecular Genetics & Genomic Medicine, 2023
AbstractBackgroundMutations in PTH1R are associated with Jansen‐type metaphyseal chondrodysplasia (JMC), Blomstrand osteochondrodysplasia (BOCD), Eiken syndrome, enchondroma, and primary failure of tooth eruption (PFE). Inheritance of the PTH1R gene can be either autosomal dominant or autosomal recessive, indicating the complexity of the gene.
Jie Wang   +4 more
openaire   +2 more sources

Interplay between CaSR and PTH1R signaling in skeletal development and osteoanabolism [PDF]

open access: yesSeminars in Cell & Developmental Biology, 2016
Parathyroid hormone (PTH)-related peptide (PTHrP) controls the pace of pre- and post-natal growth plate development by activating the PTH1R in chondrocytes, while PTH maintains mineral and skeletal homeostasis by modulating calciotropic activities in kidneys, gut, and bone.
Santa Maria, Christian   +6 more
openaire   +4 more sources

Structure-Function Studies of Detergent Solubilized PTH1R-GαSβγ [PDF]

open access: yesBiophysical Journal, 2012
G-protein coupled receptors (GPCRs) are seven-transmembrane signaling proteins that bind and activate heterotrimeric G-proteins by facilitating the exchange of GDP for GTP. The structural and functional consequences of GPCR-G protein binding have been well studied and include a high-resolution structure of the agonist-GPCR-G-protein ternary complex ...
Stevenson, Hilary P.   +3 more
openaire   +1 more source

Novel Mutations in PTH1R Associated with Primary Failure of Eruption and Osteoarthritis [PDF]

open access: yesJournal of Dental Research, 2013
Autosomal dominant mutations in PTH1R segregate with primary failure of eruption (PFE), marked by clinical eruption failure of adult teeth without mechanical obstruction. While the diagnosis of PFE conveys a poor dental prognosis, there are no reports of PFE patients who carry PTH1R mutations and exhibit any other skeletal problems.
S A, Frazier-Bowers   +6 more
openaire   +2 more sources

CHD7 Regulates Osteogenic Differentiation of Human Dental Follicle Cells via PTH1R Signaling

open access: yesStem Cells International, 2020
Chromodomain helicase DNA-binding protein 7 (CHD7) is an ATP-dependent chromatin remodeling enzyme, functioning as chromatin reader to conduct epigenetic modification.
Caojie Liu   +4 more
doaj   +1 more source

Sex‐Specific Differences in Gsα‐Mediated Signaling Downstream of PTH1R Activation by Abaloparatide in Bone

open access: yesJBMR Plus, 2022
Teriparatide, recombinant parathyroid hormone (PTH[1‐34]), and abaloparatide, an analogue of PTH related‐peptide (PTHrP[1‐34]), are both anabolic medications for osteoporosis that target the PTH receptor PTH1R.
Srilatha Swami   +6 more
doaj   +1 more source

Receptor activity-modifying protein modulation of parathyroid hormone-1 receptor function and signaling

open access: yesFrontiers in Pharmacology
IntroductionReceptor activity-modifying proteins (RAMPs) are known to modulate the pharmacology and function of several G-protein-coupled receptors (GPCRs), including the parathyroid hormone 1 receptor (PTH1R).
Paris Avgoustou   +7 more
doaj   +1 more source

Plant-based production and characterization of a promising Fc-fusion protein against microgravity-induced bone density loss

open access: yesFrontiers in Bioengineering and Biotechnology, 2022
Microgravity-induced bone loss is a main obstacle for long term space missions as it is difficult to maintain bone mass when loading stimuli is reduced. With a typical bone mineral density loss of 1.5% per month of microgravity exposure, the chances for ...
Yongao Xiong   +9 more
doaj   +1 more source

Molecular pathophysiology of chronic kidney disease–mineral and bone disorder: Focus on the fibroblast growth factor 23–Klotho axis and bone turnover dynamics

open access: yesExperimental Physiology, EarlyView.
Abstract Chronic kidney disease–mineral and bone disorder (CKD‐MBD) is a major complication of chronic kidney disease (CKD), characterized by disruptions in mineral metabolism, abnormal bone turnover and vascular calcification, which collectively increase the risk of fractures and cardiovascular disease.
Alief Waitupu   +4 more
wiley   +1 more source

Therapeutic and Predicted Significance of PKLR in Patients With Cholangiocarcinoma

open access: yesCancer Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background Cholangiocarcinoma (CCA) is a highly heterogeneous malignancy with a poor prognosis. However, the molecular mechanisms underlying CCA and its treatment options remain unclear and limited. Aims This study aims to identify novel prognostic biomarkers and potential therapeutic targets for CCA through transcriptomics and whole‐exome ...
Biyan Gong   +7 more
wiley   +1 more source

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