Evidence for a “Pathogenic Triumvirate” in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease [PDF]
, 2016 A grant from the One-University Open Access Fund at the University of Kansas was used to defray the author's publication fees in this Open Access journal.
Apte, Udayan +4 more
core +3 more sources
Concurrent polycystic liver disease and bilateral renal dysplasia in a 20‐week‐old Great Dane
Veterinary Record Case Reports, Volume 12, Issue 1, March 2024.Abstract A 20‐week‐old, unneutered, female Great Dane was evaluated for failure to thrive and anorexia after 4 weeks of adequate caloric provision. Initial bloodwork results indicated elevated liver enzymes, azotaemia, hyperphosphataemia and non‐regenerative anaemia. Abdominal radiographs following a 24‐hour fast revealed hepatomegaly.
Frances L. Knight, Vincent J. Tavella
wiley +1 more source
Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1 [PDF]
, 2014 Autosomal recessive polycystic kidney disease (ARPKD) results from mutations in the human PKHD1 gene. Both this gene, and its mouse ortholog, Pkhd1, are primarily expressed in renal and biliary ductal structures.
Boddu, R +10 more
core +1 more source
Magnetic resonance microscopy of renal and biliary abnormalities in excised tissues from a mouse model of autosomal recessive polycystic kidney disease. [PDF]
, 2015 Polycystic kidney disease (PKD) is transmitted as either an autosomal dominant or recessive trait and is a major cause of renal failure and liver fibrosis.
Blackband, Stephen J +7 more
core +2 more sources
Active focal segmental glomerulosclerosis is associated with massive oxidation of plasma albumin [PDF]
, 2007 The basic mechanism for idiopathic FSGS still is obscure. Indirect evidence in humans and generation of FSGS by oxidants in experimental models suggest a role of free radicals.
BRUSCHI M +12 more
core +1 more source
Assessing the potential of DZIP1L gene in autosomal recessive polycystic kidney disease gene therapy
Pediatric Discovery, Volume 2, Issue 1, March 2024.
Fahreddin Palaz
wiley +1 more source
Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model [PDF]
, 2012 Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD).
Nakanuma, Yasuni +2 more
core +3 more sources
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts [PDF]
, 2005 Angela Sharp +8 more
openalex +1 more source
Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa [PDF]
The incidence of rare diseases is expected to be comparatively higher in the Middle East and North Africa (MENA) region than in other parts of the world, attributed to the high prevalence of consanguinity.
Elgebaly, A. +5 more
core +1 more source
The cAMP effectors Epac and protein kinase a (PKA) are involved in the hepatic cystogenesis of an animal model of autosomal recessive polycystic kidney disease (ARPKD) [PDF]
, 2008 Jesús M. Bañales +5 more
openalex +1 more source