Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema
and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional …

Pathologic thrombosis is a major cause of mortality. Hemolytic-uremic syndrome (HUS)
features episodes of small-vessel thrombosis resulting in microangiopathic hemolytic anemia, …

Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that
affect kidney, retina, and brain. Genetic defects in NPHP gene products that localize to cilia …

Rapid intracellular transport and secretion of cytotoxic granules through the immunological
synapse requires a balanced interaction of several proteins. Disturbance of this highly …

Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure.
Identification of single-gene causes of SRNS has generated some insights into its …

We observed two unrelated consanguineous families with malformation syndromes sharing
anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary …

Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearly
ubiquitously in the body and act as solitary cellular mechanosensory organelles. The list …

Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature
dysplasia or degeneration occurring preferentially in the kidney, retina and cerebellum. Here we …

Deafness is genetically very heterogeneous and forms part of several syndromes. So far,
delayed rectifier potassium channels have been linked to human deafness associated with …

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder characterized
by defective cilia and flagella motility. Chronic destructive-airway disease is caused by …