Obesity is a major public health concern. This condition results from a constant and complex
interplay between predisposing genes and environmental stimuli. Current attempts to …

Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic
kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young …

Identifying methylation quantitative trait loci (meQTLs) and integrating them with disease-
associated variants from genome-wide association studies (GWAS) may illuminate …

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 …

Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most
common genetic disorders causing end‐stage renal disease in children. Nephronophthisis …

Autosomal dominant polycystic kidney disease (ADPKD) is a progressive inherited disorder
in which renal tissue is gradually replaced with fluid-filled cysts, giving rise to chronic kidney …

Upwards of 90% of individuals with Bardet-Biedl syndrome (BBS) display rod-cone
dystrophy with early macular involvement. BBS is an autosomal recessive, genetically …

Defective DNA repair pathways contribute to the development of chronic kidney disease
(CKD) in humans. However, the molecular mechanisms underlying DNA damage–induced …

Primary cilia are specialized organelles that sense changes in extracellular milieu, and their
malfunction is responsible for several disorders (ciliopathies). Increasing evidence shows …

Nephronophthisis (NPH) is an autosomal recessive ciliopathy and a major cause of end-
stage renal disease in children. The main forms, juvenile and adult NPH, are characterized …