RH Giles

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Objective Many ciliopathies are diagnosed in infants and children. Obtaining blood and/or skin biopsies for diagnostic and research purposes requires a visit to the clinic and a specialized sample collection skill. We sought alternative non-invasive sources of biomaterial from patients. Methods We have generated an approved Standard Operating Procedure to(More)
Objective Nephronophthisis is an autosomal recessive renal ciliopa-thy that constitutes the leading monogenic cause of end-stage renal disease in children. The KOUNCIL consortium is a collaboration between the UMC Utrecht, the Radboud UMC Nijmegen and UC London aimed at elucidating the genetic etiology and pathophysiological mechanisms underlying(More)
A hallmark of many ciliopathies are renal cysts, ultimately disrupting kidney architecture and resulting in end-stage renal disease as the most common cause of mortality. Yet despite being the largest demand for renal replacement therapy (ie. dialysis, kidney transplantation) in young patients, the exact etiology of nephronophthisis (NPHP) and polycystic(More)
Ciliopathy is a general term applied to diseases that originate from ciliary dysfunction, which often coincide with renal cyst development. Any syndrome displaying renal cysts, such as folliculin (FLCN) in Birt-Hogg-Dube (BHD) syndrome, might therefore be suspected as a novel ciliopa-thy. Indeed, FLCN localizes to the primary cilium. To study ciliopathies(More)
SYSCILIA, " A systems biology approach to dissect cilia function and its disruption in human genetic disease " Primary cilia are basically signaling hubs, harboring amongst others the noncanonical WNT, Hedgehog,and PDGF signaling systems, and their disruption leads to striking developmental defects. Some ciliopathy-associated proteins have recently been(More)
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