Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

Nephronophthisis and related syndromes : Current Opinion in Pediatrics Nephronophthisis and
related syndromes : Current Opinion in Pediatrics Log in or Register Subscribe to …

Summary Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes
are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration …

Hereditary retinal blindness is caused by mutations in genes expressed in photoreceptors or
retinal pigment epithelium. Gene therapy in mouse and dog models of a primary retinal …

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the
most frequent genetic causes for kidney failure (KF) in children and adolescents. Over 20 …

Mammalian photoreceptors contain specialised connecting cilia that connect the inner (IS) to
the outer segments (OS). Dysfunction of the connecting cilia due to mutations in ciliary …

The normal development and function of photoreceptors is essential for eye health and
visual acuity in vertebrates. Mutations in genes encoding proteins involved in photoreceptor …

Spermatogenesis is a cell differentiation process that ensures the production of fertilizing
sperm, which ultimately fuse with an egg to form a zygote. Normal spermatogenesis relies …

The rod and cone photoreceptor cells of the vertebrate retina have highly specialized
structures that enable them to carry out their function of light detection over a broad range of …

Senior–Løken syndrome (SLS) is an autosomal recessive disease characterized by
development of a retinitis pigmentosa (RP)-or Leber congenital amaurosis (LCA)-like retinal …