Results 51 to 60 of about 5,354 (221)

Primary osteoblast-like cells from patients with end-stage kidney disease reflect gene expression, proliferation, and mineralization characteristics ex vivo. [PDF]

, 2015
Osteocytes regulate bone turnover and mineralization in chronic kidney disease. As osteocytes are derived from osteoblasts, alterations in osteoblast function may regulate osteoblast maturation, osteocytic transition, bone turnover, and skeletal ...
Bowen, Richard E, Delany, Anne M, Freymiller, Earl G, Khouzam, Nadine M, Pereira, Renata C, Salusky, Isidro B, Wesseling-Perry, Katherine   +6 more
core   +2 more sources

Molecular cloning and glucocorticoid responsiveness of the murine PHEX gene promoter

Gastroenterology, 2000
Eric R. Hines, Pawel R. Kiela, James F. Collins   +2 more
openalex   +2 more sources

Global Gene Expression Analysis Identifies Age-Related Differences in Knee Joint Transcriptome during the Development of Post-Traumatic Osteoarthritis in Mice. [PDF]

, 2020
Aging and injury are two major risk factors for osteoarthritis (OA). Yet, very little is known about how aging and injury interact and contribute to OA pathogenesis.
Christiansen, Blaine A, Hum, Nicholas R, Loots, Gabriela G, McCool, Jillian L, Mendez, Melanie E, Murugesh, Deepa K, Rios-Arce, Naiomy D, Sebastian, Aimy   +7 more
core   +2 more sources

Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia

Journal of Clinical Endocrinology & Metabolism, 1998
Hypophosphatemic rickets is commonly an X-linked dominant disorder (XLH or HYP) associated with a renal tubular defect in phosphate transport and bone deformities. The XLH gene, referred to as PHEX, or formerly as PEX (phosphate regulating gene with homologies to endopeptidases on the X-chromosome), encodes a 749-amino acid protein that putatively ...
Dixon, P H, Christie, P T, Wooding, C, Trump, D, Grieff, M, Holm, I, Gertner, J M, Schmidtke, J, Shah, B, Shaw, N, Smith, C, Tau, C, Schlessinger, D, Whyte, M P, Thakker, R V   +14 more
openaire   +3 more sources

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)₂D serum levels are associated with PHEX mutation type

BMC Medical Genetics, 2011
Background Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels.
García-Miñaur Sixto, García-Sagredo José M, Soriano-Guillén Leandro, Fontalba Ana, Aleixandre Fernando, Vila-Cots Jaime, Martorell Loreto, Vilalta Ramón, Nieto José, Rica Itxaso, Ariceta Gema, Rey-Cordo Lourdes, Díaz-Grande José M, Bernabeu Ignacio, Gil Marta, Pombo Manuel, Cabanas Paloma, Barreiro Jesús, Castro-Feijóo Lidia, Morey Marcos, Rodríguez Berta, Juaristi Saioa, García-Pardos Carmen, Martínez-Peinado Antonio, Millán José M, Medeira Ana, Moldovan Oana, Fernandez Angeles, Loidi Lourdes   +28 more
doaj   +1 more source

Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia [PDF]

, 2018
Adults presenting with sporadic hypophosphatemia and elevations in circulating fibroblast growth factor-23 (FGF23) concentrations are usually investigated for an acquired disorder of FGF23 excess such as tumor induced osteomalacia (TIO). However, in some
Alan Sorani, Andreas Tridimas, Bahrami, Carpenter TO, Carpenter TO, Chong, Chong, Dixon, Durham, Econs, Fadil M. Hannan, Gaucher, gene, Goljanek-Whysall, Hannan, Hardy, Holm, Imel, Imel, Jagtap, Jiang, Kankaanpaa, Katarzyna Goljanek-Whysall, Makras, McWhorter, Melissa Sloman, Migeon, Nicki-Jayne Russell, Okan, Orstavik, Punzi, Quarles, Queiro, Rachel McCormick, Ritchlin, Sabbagh, Soriano-Arroquia, William D. Fraser, WJ   +38 more
core   +1 more source

X - Linked Hypophosphatemic Rickets: A diagnostic and therapeutic challenge

Iatreia, 2021
X-linked hypophosphatemia is a genetic disorder caused by PHEX gene mutations, which affects the encoding of a metalloprotease whose function is to inhibit fibroblastic growth factor —23 (FGF-23), promoting phosphate renal loss.
Guerrero Tinoco, Gustavo Adolfo, García Bermejo, Roberto, Cardona Orozco, Evelin Julieth   +2 more
doaj   +1 more source

Osteocytes Serve as a Progenitor Cell of Osteosarcoma [PDF]

, 2014
Osteosarcoma (OSA) is the most common primary bone tumor in humans. However, the cell of origin of OSA is not clearly defined although there is evidence that osteoblasts may serve as OSA progenitors.
Asai, Atkin, Baird, Barger, Barroga, Bellahcene, Berman, Bielack, Bielack, Bonewald, Cao, Czekanska, Fan, Fogh, Franz-Odendaal, Henderson, Jones, Kashima, Kato, Khanna, Kimura, Knowles, Kobayashi, Kunita, Lane, Lednicky, Lee, Levine, Marton, Mohseny, Mutsaers, Patane, Pautke, Pipas, Qin, Rhodes, Rodan, Schmidt, Sottnik, Sottnik, Su, Walkley, Wijenayaka, Woo, Wysolmerski, Ye, Yin, Yu, Zhang, Zhu   +49 more
core   +1 more source

X-linked hypophosphatemic rickets: Case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2014
Introduction. X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation.
Radlović Vladimir, Smoljanić Željko, Radlović Nedeljko, Leković Zoran, Ristić Dragana, Dučić Siniša, Pavićević Polina   +6 more
doaj   +1 more source

Extracellular Matrix Mineralization Promotes E11/gp38 Glycoprotein Expression and Drives Osteocytic Differentiation [PDF]

, 2012
Osteocytes are terminally differentiated osteoblasts which reside in a mineralized extracellular matrix (ECM). The factors that regulate this differentiation process are unknown.
Farquharson, C., Loveridge, N., Pitsillides, A. A., Prideaux, M.   +3 more
core   +3 more sources