ABSTRACT. Recent evidence has suggested an association between structural and/or
functional defects in the primary apical cilium of vertebrate epithelia and polycystic kidney …

Background Autosomal dominant polycystic kidney disease (ADPKD) is characterized by
progressive enlargement of cyst-filled kidneys. Methods In a three-year study, we measured …

Cilia and flagella are microtubule-based structures nucleated by modified centrioles termed
basal bodies. These biochemically complex organelles have more than 250 and 150 …

Cystic kidneys are common causes of end-stage renal disease, both in children and in
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic
kidney disease that presents primarily in infancy and childhood and that is characterized by …

… These studies involved nine subjects with an average GFR of 91 mL/min/1.73 m 2 and a
median prospective follow-up of 8 years in one study[10] and ten subjects with an average GFR …

Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD)
is complicated by genetic and allelic heterogeneity, large multi-exon genes, …

Objective.We designed a longitudinal clinical database for autosomal recessive polycystic
kidney disease (ARPKD), recruited patients from pediatric nephrology centers in the United …

The objective of this study was to investigate the prevalence of hepatic cysts by age and
gender in patients with early autosomal-dominant polycystic kidney disease (ADPKD) and to …

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