Concept
Fanconi syndrome
Related publications (4)
New roles of Bicc1 in cilia formation, cell adhesion, and in adult kidneys.
Bicaudal-C1 (Bicc1), an RNA-Binding protein, is a ciliopathy-associated protein. In development, Bicc1 is necessary for left-right axis specification. Loss of Bicc1 in mice also associates with polycystic kidney development. In human, two hereditary polycy ...
EPFL2023Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron
Dmitri Firsov, Vladimir Katanaev
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 ap ...
Amer Soc Nephrology2017Lead Optimisation of a Novel Small Molecule Notch Inhibitor
Notch signalling represents a form of cell-to-cell communication that plays a pivotal role for cellular organisation during embryonic and postnatal development, as well as in the homeostasis of adult organs and tissues. Malfunction of this signalling pathw ...
EPFL2015MHC antigens in interferon gamma (IFN gamma) receptor deficient mice: IFN gamma-dependent up-regulation of MHC class II in renal tubules
MHC class II gene products in parenchymal cells, such as tubular epithelial cells in kidney, may play a role in the regulation of autoimmune reactions. Expression of MHC class II in renal tubular cells is normally very low, but it increases considerably un ...
1995