Results 61 to 70 of about 4,392 (235)

Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron. [PDF]

, 2017
Tight control of extracellular and intracellular inorganic phosphate (Pi) levels is critical to most biochemical and physiologic processes. Urinary Pi is freely filtered at the kidney glomerulus and is reabsorbed in the renal tubule by the action of the ...
Baron, R., Gautschi, I., Haenzi, B., Hu, D.Z., Katanaev, V., Katanaeva, N., Koesters, R., Nikolaeva, S., Pradervand, S., Rotman, S., Schild, L.   +10 more
core   +1 more source

Serum fibroblast growth factor 23, serum iron and bone mineral density in premenopausal women [PDF]

, 2016
Fibroblast growth factor 23 (FGF23) circulates as active protein and inactive fragments. Low iron status increases FGF23 gene expression, and iron deficiency is common. We hypothesized that in healthy premenopausal women, serum iron influences C-terminal
Acton, Anthony, Acton, Dena, Econs, Michael J., Imel, Erik A., Liu, Ziyue, McQueen, Amie K., Padgett, Leah R., Peacock, Munro   +7 more
core   +1 more source

Effects of Thyroxine Exposure on Osteogenesis in Mouse Calvarial Pre-Osteoblasts [PDF]

, 2013
The incidence of craniosynostosis is one in every 1,800-2500 births. The gene-environment model proposes that if a genetic predisposition is coupled with environmental exposures, the effects can be multiplicative resulting in severely abnormal phenotypes.
A Mansukhani, AK Coussens, BD Stamper, BK Huang, BU Ang, C Owen, C Yao, CB Harvey, CH Shackleton, CW Li, D Gomez, D Johnson, DC Robinson, DP Rice, DT Gault, G Radetti, G Ramajayam, GA Brent, GM Morriss-Kay, GR Williams, H Kohara, H Miraoui, HJ Kim, J Connerney, J Esparza, J Zumbrunn, JA Greenwald, Jack C. Yu, James J. Cray, JH Bassett, JH Oh, JL Penfold, JM Britto, JQ Feng, JS Morey, K Kasono, KA Kapp-Simon, Kameron Khaksarfard, KM Lee, M Bodo, M Menking, M Segni, MH Sheng, MM Cohen Jr, Mohammed Elsalanty, PJ Marie, R Rice, S Akita, S Wadhwa, S Weiss, SA Boyadjiev, SA Rasmussen, Seth M. Weinberg, W Arlt, W Riggs Jr, WM Chadduck, Xing-Ming Shi, Y Xiong, Z von Marschall   +58 more
core   +5 more sources

Surgical management of intracranial hypertension in rickets-related craniosynostosis

Interdisciplinary Neurosurgery
Hypophosphatemic rickets is occasionally associated with craniosynostosis. Delayed diagnosis can result in intracranial hypertension, potentially leading to serious neurological complications.
Alessio Iacoangeli, Sergio Capelli, Andrea Held, Emidio Procaccini, Davide Luglietto, Matteo Barba, Alessandro De Benedictis, Carlo Gandolfo, Carlo Efisio Marras   +8 more
doaj   +1 more source

X-linked vitamin D-resistant rickets: 12 years of follow-up

The Pan African Medical Journal, 2018
Rickets are abnormalities of mineralization that can lead to bone fractures and deformities. Vitamin-resistant rickets is defined as any rickets not prevented by regular, early and prolonged administration of vitamin D and not cured by a sufficient total
Ahmed Anas Guerboub, Souad Moussaoui, Jad Issouani, Yassine Errahali, Ghizlaine Belmejdoub   +4 more
doaj   +1 more source

Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations [PDF]

, 2018
X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH.
Casey, A, Chesher, D, Darbar, U, Lachmann, RH, Murphy, E, Oddy, M, Ryan, A, Sayal, P, Sechi, A, Simister, C, Waters, A, Wedatilake, Y   +11 more
core   +1 more source

Genetic diseases of renal phosphate handling [PDF]

, 2006
UNLABELLED: Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1 ...
Wagner, Carsten A., Rubio-Aliaga, Isabel, Biber, Jürg, Hernando, Nati   +3 more
core   +3 more sources

Endodontic treatment in patients with X-linked hypophosphatemic rickets

Brazilian Journal of Oral Sciences, 2015
The X-linked hypophosphatemic rickets (XLHR) is the most common type of rickets in developed countries, with an incidence of 1- 20.000 individuals. It results from a defect in renal tubular phosphate transport, which leads to a hypophosphatemia.
Cleverton Roberto de Andrade, Cláudio Maranhão Pereira, Fabio Augusto Ito, Ricardo Della Coletta, Edgard Graner, Marcio Ajudarte Lopes   +5 more
doaj   +1 more source

FGF23 is elevated in multiple myeloma and increases heparanase expression by tumor cells [PDF]

, 2015
Multiply myeloma (MM) grows in and destroys bone, where osteocytes secrete FGF23, a hormone which affects phosphate homeostasis and aging. We report that multiple myeloma (MM) cells express receptors for and respond to FGF23.
Chirgwin, John M., Crean, Colin D., Edwards, Daniel F., Fournier, Pierrick G., Ichikawa, Shoji, Imel, Erik A., Parker, Jamie M., Petyaykina, Katarina V., Sandusky, George E., Suvannasankha, Attaya, Tompkins, Douglas R.   +10 more
core   +2 more sources

Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: Identification as an allele of 'Hyp'

Journal of Biomedical Science, 2011
Background The endopeptidase encoded by Phex (phosphate-regulating gene with homologies to endopeptidases linked to the X chromosome) is critical for regulation of bone matrix mineralization and phosphate homeostasis.
Kimura Atsushi, Ogiwara Katsueki, Yoshiki Atsushi, Mekada Kazuyuki, Hanai Atsuko, Moriyama Kenji, Takahashi Takayuki   +6 more
doaj   +1 more source