Results 81 to 90 of about 2,933 (162)

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

Genetics in Medicine Open
Purpose: Genetic defects that impair growth plate chondrogenesis cause a phenotype that varies from skeletal dysplasia to mild short stature with or without other syndromic features.
Youn Hee Jee, Julian C. Lui, Dana Marafi, Zhi-Jie Xia, Ruchika Bhatia, Elaine Zhou, Isabella Herman, Adrian Temnycky, Philip Whalen, Gene Elliot, Ellen W. Leschek, Robin Wijngaard, Ronald van Beek, Annemarie de Vreugd, Maaike C. de Vries, Clara D.M. van Karnebeek, Machteld M. Oud, Thomas C. Markello, Kevin M. Barnes, Hadil Alrohaif, Hudson H. Freeze, William A. Gahl, May Christine V. Malicdan, Jennifer E. Posey, James R. Lupski, Jeffrey Baron   +25 more
doaj   +1 more source

PTHrP and PTH1R expression in Human myocardiocytes.

, 2013
The PTHrP/PTH1R signalling system induces calciotropic and myorelaxant effects on the vascular system and plays critical roles in the development of the cardiovascular system. In animal models, PTHrP exerts important effects on heart rate and contractility, particularly under ischemic conditions, while, in human hearts, the expression of PTHrP by ...
openaire   +1 more source

VPS35: Two Ways to Recycle the Parathyroid Hormone Receptor (PTH1R) in Osteoblasts

EBioMedicine, 2016
The recombinant parathyroid hormone (PTH) Teriparatide is the only therapy for postmenopausal osteoporosis that increases bone mass (i.e., is anabolic). Its therapeutic action depends on a short “burst” of PTH in the circulation followed by a rapid return to normal levels; if PTH levels remain high, bone loss occurs (i.e., the effect is catabolic ...
openaire   +4 more sources

Nf2 orchestrates β-arrestin2-biased PTH1R signaling to couple bone mass with skeletal integrity. [PDF]

Proc Natl Acad Sci U S A
Liao J, He Y, Zhang C, Qian Q, Huang Y, Zhang Q, Shen P, Zhou C, Wu M, Chen G.   +9 more
europepmc   +1 more source

Altered Intracellular Trafficking as a Mechanism for Prolonged Duration of G Protein-Coupled Receptor Activation. [PDF]

J Am Chem Soc
Kim TW, Gerrard EJ, Shin J, Gardella TJ, Wootten D, Sexton PM, Cary BP, Gellman SH.   +7 more
europepmc   +1 more source

Live-cell imaging reveals decreased cAMP in a PFE-associated c.1050-3C>G PTH1R cell model. [PDF]

J Mol Med (Berl)
Marnet K, Subramanian H, Wiesler M, Borst A, Liedtke D, Pattappa G, Docheva D, Nikolaev VO, Stellzig-Eisenhauer A, Eigenthaler M, Herrmann M.   +10 more
europepmc   +1 more source

Genetic Determinants of Primary Failure of Eruption: A Comprehensive Review of PTH1R Variants. [PDF]

Genes (Basel)
Niccolini B, Lauretti G, Chiurazzi P, Grippaudo C, Tabolacci E.   +4 more
europepmc   +1 more source

Regulation of cAMP levels in osteocytes by mechano-sensitive focal adhesion kinase and phosphodiesterase 8A. [PDF]

iScience
Papaioannou G, Sato T, Houghton C, Yan C, Kotsalidis PE, Strauss KE, Dean T, Mazur CM, Nelson AJ, Stokes MP, Gardella TJ, Wein MN.   +11 more
europepmc   +1 more source

Upregulation of Parathyroid Hormone Receptor 1 (<i>PTH1R</i>) in Non-Mechanostimulated Osteocytes Under High-Glucose Conditions Promotes a Macrophage Pro-Inflammatory and Osteoclastogenic Phenotype via IL-6 Secretion. [PDF]

Int J Mol Sci
Tirado-Cabrera I, Pizarro-Gomez J, Martin-Guerrero E, Méndez-Rodríguez C, Bellido T, Gortazar AR, Ardura JA.   +6 more
europepmc   +1 more source

G protein-coupled receptor signaling in osteogenic bone mesenchymal stem/stromal cells. [PDF]

Front Cell Dev Biol
Wolfe TJ, Weaver SR.
europepmc   +1 more source