Concept
Syndrome de Fanconi
Publications associées (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 ...
EPFL2015