Results 111 to 120 of about 8,333 (256)
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
A Rare Diagnosis of Caroli Syndrome in a Young Patient
Clinical Case Reports, Volume 13, Issue 6, June 2025.ABSTRACT Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis.
Elaheh Karimzadeh‐Soureshjani +4 more
wiley +1 more source
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
Journal of Cell Communication and Signaling, Volume 19, Issue 2, June 2025.Abstract CEP162, a 162‐kDa centrosome protein, is a crucial centrosomal adapter, mediating cell differentiation and polarization. CEP162 maintains mitosis by dynamically stabilizing microtubules. CEP162 promotes the transition zone (TZ) assembly in the basal body through interaction with CEP131, CEP290, and axoneme microtubules as well as the distal ...
Jun Yin +7 more
wiley +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
Compromised vertebral structural and mechanical properties associated with progressive kidney disease and the effects of traditional pharmacological interventions [PDF]
, 2015 BACKGROUND/AIMS: Patients with chronic kidney disease mineral and bone disorder (CKD-MBD) have a significantly higher vertebral and non-vertebral fracture risk than the general population.
Allen, Matthew R. +6 more
core +1 more source
Contextualizing guidelines for the health system of Cyprus: Experiences and lessons learnt
Clinical and Public Health Guidelines, Volume 2, Issue 2, April 2025.Abstract Background Cyprus is undergoing a major health reform with the recent establishment of the General Healthcare System (GHS). The GHS offers equal healthcare access through one primary insurer (Health Insurance Organization [HIO]) and benefits from a wide collaborative network of public and private healthcare providers.
Panayiotis Kouis +49 more
wiley +1 more source
Mutational analysis of the PLCE1 gene in steroid-resistant nephrotic syndrome [PDF]
, 2010 International audienceBackground: Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLCε1) have been recently described in patients with early-onset nephrotic syndrome (NS) and diffuse mesangial sclerosis (DMS).
Audrey Pawtowski +21 more
core +7 more sources
Modeling congenital kidney diseases in Xenopus laevis
Disease Models & Mechanisms, 2019 Congenital anomalies of the kidney and urinary tract (CAKUT) occur in ∼1/500 live births and are a leading cause of pediatric kidney failure. With an average wait time of 3-5 years for a kidney transplant, the need is high for the development of new ...
Alexandria T. M. Blackburn +1 more
doaj +1 more source