Results 81 to 90 of about 6,344 (210)
When is biopsy-proven TIN not simply TIN? Answers [PDF]
, 2017 This article refers to the article that can be found at doi: 10.1007/s00467-016-3465 ...
Chong, WK +4 more
core
Development and disease of the photoreceptor cilium [PDF]
, 2009 Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues.
Adams +48 more
core +1 more source
Nephronophthisis and related syndromes [PDF]
Current Opinion in Pediatrics, 2015 Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most common genetic disorders causing end-stage renal disease (ESRD) in children and adolescents. NPHP is a genetically heterogenous disorder with 20 identified genes.
openaire +2 more sources
Post‐Translational Modifications in Cilia and Ciliopathies
Advanced Science, Volume 12, Issue 31, August 21, 2025.This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley +1 more source
IJU Case Reports, Volume 8, Issue 4, Page 330-333, July 2025.ABSTRACT Introduction Posterior reversible leukoencephalopathy syndrome (PRES) is a rare but serious complication in kidney transplant recipients, often triggered by calcineurin inhibitors (CNIs) and infections. Case Presentation A 52‐year‐old woman with end‐stage kidney disease underwent cadaveric renal transplantation. Two months post‐transplant, she
Kenji Tsutsui +9 more
wiley +1 more source
Targeting GLI factors to inhibit the Hedgehog pathway [PDF]
, 2015 Hedgehog (Hh) signaling has emerged in recent years as an attractive target for anticancer therapy because its aberrant activation is implicated in several cancers. Major progress has been made in the development of SMOOTHENED (SMO) antagonists, although
Alfonsi, Romina +4 more
core +2 more sources
Joubert syndrome with nephronophthisis in neurofibromatosis type 1
Saudi Journal of Kidney Diseases and Transplantation, 2011 Joubert syndrome (JS) is a rare developmental disorder of the central nervous system, characterised by brainstem and cerebellar malformations, hypotonia, episodic hyperapnea and apnea and mental retardation.
Javed Ahmed, Uma S Ali
doaj
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression [PDF]
, 2017 Uromodulin (UMOD) mutations are responsible for three autosomal dominant tubulo-interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease.
Attanasio, Massimo +15 more
core
Characterization of the SAM domain of the PKD-related protein ANKS6 and its interaction with ANKS3 [PDF]
, 2014 Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder leading to end-stage renal failure in humans. In the PKD/Mhm(cy/+) rat model of ADPKD, the point mutation R823W in the sterile alpha motif (SAM) domain ...
Bowie, James U. +4 more
core +3 more sources