Affiliation: Massachusetts General Hospital
Bergwitz C, Juppner H. Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. Annu Rev Med. 2010;61:91-104 pubmed publisher
..Most insights gained into the regulation of phosphate homeostasis by these factors are derived from human genetic disorders and genetically engineered mice, which are reviewed in this paper. ..
Hu Y, Flockhart I, Vinayagam A, Bergwitz C, Berger B, Perrimon N, et al
. An integrative approach to ortholog prediction for disease-focused and other functional studies. BMC Bioinformatics. 2011;12:357 pubmed publisher
..org/diopt-dist). DIOPT and DIOPT-DIST are useful resources for researchers working with model organisms, especially those who are interested in exploiting model organisms such as Drosophila to study the functions of human disease genes. ..
Bergwitz C, Roslin N, Tieder M, Loredo Osti J, Bastepe M, Abu Zahra H, et al
. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. Am J Hum Genet. 2006;78:179-92 pubmed
..We conclude that NaP(i)-IIc has a key role in the regulation of phosphate homeostasis. ..
Bergwitz C, Juppner H. Disorders of phosphate homeostasis and tissue mineralisation. Endocr Dev. 2009;16:133-56 pubmed publisher
..This chapter will provide an update on the current knowledge of the pathophysiology, the clinical presentation, diagnostic evaluation and therapy of the disorders of phosphate homeostasis and tissue mineralisation...
Bergwitz C, Banerjee S, Abu Zahra H, Kaji H, Miyauchi A, Sugimoto T, et al
. Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis. J Clin Endocrinol Metab. 2009;94:4267-74 pubmed publisher
..However, it remained unclear to date how these mutations lead to loss of biologically active FGF23 in the circulation...
Bergwitz C, Juppner H. Phosphate sensing. Adv Chronic Kidney Dis. 2011;18:132-44 pubmed publisher
..This article will review the bacterial and yeast phosphate sensors, and then discuss what is currently known about the metabolic and endocrine effects of phosphate in multicellular organisms and human beings. ..
Bergwitz C, Rasmussen M, Derobertis C, Wee M, Sinha S, Chen H, et al
. Roles of major facilitator superfamily transporters in phosphate response in Drosophila. PLoS ONE. 2012;7:e31730 pubmed publisher
..Finally, while phosphate is essential for Drosophila larval development, loss of MFS13 activity is compatible with viability indicating redundancy at the levels of the transporters...
Dasgupta D, Wee M, Reyes M, Li Y, Simm P, Sharma A, et al
. Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. J Am Soc Nephrol. 2014;25:2366-75 pubmed publisher
..22; 95% CI, 1.05 to 1.41; P=0.008). Additional studies are needed to determine whether these biochemical parameters are independent of genotype and can guide therapy to prevent nephrocalcinosis, nephrolithiasis, and potentially, CKD. ..