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Mutations in Bicaudal C1 (BICC1), an RNA binding protein involved in translational regulation, have been associated with cystic kidney disease both in humans and in mice. Since kidney cysts associate with pancreatic defects in several human syndromes, we i ...
During early somite stages of development, the broad endoderm-derived foregut and hindgut territories become further subdivided along the antero-posterior axis into organs. One of these organs is the pancreas which serves two major physiological functions: ...
The KH domain RNA binding protein Bicaudal-C is known to play a role in anterior-posterior (AP) patterning in Drosophila by acting on oskar mRNA. In mammals, its expression is induced at late gastrulation in the mesodermal layer of the ventral node. Renal ...
Bicaudal C homologue 1 (Bicc1) knockout in mice causes polycystic kidney disease and pancreas development defects, including a reduction in insulin-producing β-cells and ensuing diabetes. We therefore screened 137 patients with renal abnormalities or assoc ...
Genetic disorders known as ciliopathies develop polycystic kidneys, including autosomal
dominant and autosomal recessive polycystic kidney diseases (ADPKD and ARPKD). Several signaling pathways including the cAMP/PKA pathway are implicated in driving cyst ...
Cilia dysfunction is a common factor underlying left-right axis malformation and the pathogenesis of virtually all known renal cystic diseases. Mutations in the RNA-binding protein Bicaudal-C (Bicc1) provoke cystic kidneys reminiscent of polycystic kidney ...
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 ...
Genetic defects in autosomal dominant polycystic kidney disease (ADPKD) promote cystic growth of renal tubules, at least in part by stimulating the accumulation of cAMP. How renal cAMP levels are regulated is incompletely understood. We show that cAMP and ...
Polycystic diseases and left-right (LR) axis malformations are frequently linked to cilia defects. Renal cysts also arise in mice and frogs lacking Bicaudal C (BicC), a conserved RNA-binding protein containing K-homology (KH) domains and a sterile alpha mo ...
Hox genes encode homeodomain-containing proteins that control embryonic development in multiple contexts. Up to 30 Hox genes, distributed among all four clusters, are expressed during mammalian kidney morphogenesis, but functional redundancy between them h ...