Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles
BMC Nephrology, 2020 Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood.
Elisa Molinari +3 more
doaj +1 more source
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports
Molecular Genetics & Genomic Medicine, 2022 Background Caroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age of onset and clinical manifestations.
Carola Giacobbe +5 more
doaj +1 more source
Frontiers in Genetics, 2021 Background and Aims: The multiple renal cysts (MRC) occur in some patients with noncirrhotic portal hypertension (NCPH) could be a subset of ciliopathy.
Yanjing Wu +6 more
doaj +1 more source
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]
, 2014 Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most ...
Carsten Bergmann
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AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
Slovenska pediatrija, 2022 Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin.
Anja Fon Gabršček, Rina Rus
doaj +1 more source
TNF-α blockade is ineffective in animal models of established polycystic kidney disease [PDF]
, 2013 BACKGROUND: Given the large medical burden of polycystic kidney disease (PKD) and recent clinical trial failures, there is a need for novel, safe and effective treatments for the disorder.
Jeffrey Roix, Saurabh Saha
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Livers, 2023 Congenital hepatic fibrosis/Autosomal recessive polycystic kidney disease (CHF/ARPKD) is an inherited neonatal disease induced by mutations in the PKHD1 gene and characterized by cysts and robust pericystic fibrosis in the liver and kidneys.
Satyajeet Khare +4 more
doaj +1 more source
A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. [PDF]
, 2017 Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci have been reported, accounting for 1.5% of IOP variability.
Banda, Yambazi +10 more
core +3 more sources
TCGA whole-transcriptome sequencing data reveals significantly dysregulated genes and signaling pathways in hepatocellular carcinoma [PDF]
, 2015 This study systematically evaluates the TCGA whole-transcriptome sequencing data of hepatocellular carcinoma (HCC) by comparing the global gene expression profiles between tumors and their corresponding nontumorous liver tissue. Based on the differential
Ho, DWH, Kai, AKL, Ng, IOL
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Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families [PDF]
, 2020 Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited disorders in humans and the majority of patients carry a variant in either PKD1 or PKD2.
Aiello V. +20 more
core +1 more source