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Human diseases caused by homozygous PTH1R mutations [PDF]
Frontiers in EndocrinologyThe parathyroid hormone receptor type 1 (PTH1R) is a G protein-coupled receptor that mediates the actions of parathyroid hormone (PTH) in the regulation of blood calcium levels, as well as PTH-related protein (PTHrP) in the regulation of skeletal ...
Jakob Höppner +2 more
exaly +7 more sources
A novel PTH1R mutation causes primary failure of eruption via the cAMP-PI3K/AKT pathway [PDF]
Progress in OrthodonticsBackground Primary failure of eruption (PFE) is a rare disorder characterized by a posterior open bite. While mutations in the parathyroid hormone 1 receptor (PTH1R) gene have been demonstrated to cause PFE, the underlying mechanisms remain largely ...
Mengfei Yu, Ying Qian, Kejie Lu
exaly +3 more sources
JBMR Plus, 2022 Consistent with a vital role of parathyroid hormone (PTH) receptor type 1 (PTH1R) in skeletal development, homozygous loss‐of‐function PTH1R mutations in humans results in neonatal lethality (Blomstrand chondrodysplasia), whereas such heterozygous ...
Thomas Gardella +2 more
exaly +2 more sources
Loss of PTH 1 receptor signaling in periodontal cells drives cementum dysfunction and molar ankylosis in mice [PDF]
Bone ResearchParathyroid hormone 1 receptor (PTH1R) signaling is critical for mineral ion homeostasis and skeletal development. Although its role in tooth root formation and eruption is established, its specific functions in adult periodontal tissues and craniofacial
Hakan Turkkahraman +6 more
doaj +2 more sources
Progress in Orthodontics, 2021 Background Primary failure of eruption (PFE) is a hereditary condition, and linkage with variants in the PTH1R gene has been demonstrated in many cases.
Pietro Chiurazzi +2 more
exaly +2 more sources
Journal of Dental Sciences, 2023 Background/purpose: Parathyroid hormone-related protein (PTHrP) is an important regulatory factor in the growth, development and remodeling of bone or cartilage, and acts through its sole receptor, parathyroid hormone receptor-1 (PTH1R).
Dazhi Zhuang, Xiuping Wu
exaly +3 more sources
Pathophysiology and Molecular Signalling in Osteoporosis: Linking Risk Factors to Bone Loss. [PDF]
J Cell Mol MedABSTRACT Osteoporosis is a prevalent skeletal disorder characterised by progressive reduction in bone mass, microarchitectural deterioration, and increased fracture susceptibility. In India, approximately one‐third of the elderly population is affected by bone‐related disorders, and the global burden of osteoporosis continues to rise.
G P +5 more
europepmc +2 more sources
CAV-1 regulates osteocyte communication with osteoclast and osteoblast precursors [PDF]
Scientific ReportsMechanical forces regulate bone homeostasis through complex mechanisms involving diverse mechanoreceptors in osteocytes. PTH/PTHrP receptor type I (PTH1R) regulates the communication with osteoclast precursors by translocating to the primary cilia in ...
Joan Pizarro-Gomez +7 more
doaj +2 more sources
A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R [PDF]
Journal of Bone and Mineral ResearchGavin Monahan +2 more
exaly +2 more sources
Recent Developments in Parathyroid Hormone Type 1 Receptor and Kidney Disease [PDF]
Zhongguo quanke yixue, 2023 Parathyroid hormone type 1 receptor (PTH1R), a member of the G-protein-coupled receptor family, is extensively expressed in the human body and is involved in various processes such as embryonic development, calcium and phosphorus homeostasis, body ...
YAN Peng, SONG Jianling, FANG Xiangdong
doaj +1 more source