Unilateral polycystic kidney with PKHD1 gene mutation. [PDF]
Kidney Res Clin PractPark JH, Woo HW, Cho BS, Kim HY.
europepmc +5 more sources
Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method. [PDF]
Turk J Med SciAutosomal recessive polycystic kidney disease is an inherited kidney disease. This study aims to detect rare and common DNA variants of the PKHD1 gene using next-generation sequencing (NGS) and to classify them in terms of being pathogenic according to The American College of Medical Genetics and Genomics.NGS analysis was performed on the DNA of 304 ...
Gezgin Y +3 more
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Effect of crocin on PKHD1 and KLLN genes expression in kidney tissue of female rats treated with cadmium [PDF]
International Journal of Medical and Surgical Sciences, 2020 According to data from studies, antioxidant herbal compounds are, likely to have a useful role in reducing the harmful effects of environmental pollutants and toxic chemicals that most people are exposed to.
Akram Mohamdyari +2 more
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The PKHD1 gene inhibits tumor proliferation and invasion in intrahepatic cholangiocarcinoma by activating the Notch pathway. [PDF]
Int J Med SciBackground: Intrahepatic cholangiocarcinoma (ICC), one type of highly malignant tumor, has a poor prognosis. However, the specific role of the polycystic kidney and hepatic disease 1 (PKHD1) gene in ICC has not yet been evaluated. This study aimed to investigate the potential function and mechanism of the PKHD1 gene in ICC.
Shang T +5 more
europepmc +5 more sources
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes. [PDF]
Clin Exp Nephrol, 2022 Abstract Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The clinical spectrum is often more variable than previously considered.
Ishiko S +18 more
europepmc +5 more sources
Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient
Nefrología (English Edition), 2020 María Isabel Luis-Yanes +4 more
doaj +4 more sources
Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios. [PDF]
Clin Case Rep, 2023 Sakyu T +7 more
europepmc +3 more sources
Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman [version 1; peer review: 2 approved] [PDF]
F1000ResearchBackground Autosomal recessive polycystic kidney disease (ARPKD) is a rare, inherited disorder primarily affecting the kidneys and liver. Disease-causing variants in PKHD1 lead to a disruption of the encoded protein fibrocystin/polyductin.
Maha Al Awadi +8 more
doaj +2 more sources
Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease [PDF]
Scientific ReportsAutosomal recessive polycystic kidney disease (ARPKD) is a severe genetic disorder characterized by renal cystogenesis and hepatic fibrosis, primarily associated with PKHD1 mutations.
Nobuo Okui +2 more
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