Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease [PDF]
Physiological ReportsPolycystic kidney diseases (PKD) are genetic disorders which disrupt kidney architecture and function. Autosomal recessive PKD (ARPKD) is a rare form of PKD, caused by mutations in PKHD1, and clinically more severe than the more common autosomal dominant
Lauren G. Russell +11 more
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Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome [PDF]
Italian Journal of Pediatrics, 2020 Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12.
Gregorio Serra +8 more
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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
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Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease [PDF]
Journal of Molecular Medicine, 2023 Abstract Autosomal-recessive polycystic kidney disease (ARPKD; MIM #263200) is a severe, hereditary, hepato-renal fibrocystic disorder that causes early childhood morbidity and mortality. Mutations in the polycystic kidney and hepatic disease 1 ( PKHD1
Chaozhe Yang +11 more
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Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant. [PDF]
Am J Case RepThewjitcharoen Y +5 more
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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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Nonsense-associated alternative splicing as a putative reno-protective mechanism in Pkhd1 cyli /Pkhd1 cyli mutant mice [PDF]
, 2021 AbstractAutosomal recessive polycystic kidney disease (ARPKD) is a hereditary hepato-renal fibrocystic disorder and a significant genetic cause of childhood morbidity and mortality. Mutations in the Polycystic Kidney and Hepatic Disease 1 (PKHD1) gene cause all typical forms of ARPKD.
Chaozhe Yang +8 more
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Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait [PDF]
HeliyonBackground: Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity.
Mariam E. Alhaddad +11 more
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Inhibition ofPkhd1Impairs Tubulomorphogenesis of Cultured IMCD Cells [PDF]
Molecular Biology of the Cell, 2005 Fibrocystin/polyductin (FPC), the gene product of PKHD1, is responsible for autosomal recessive polycystic kidney disease (ARPKD). This disease is characterized by symmetrically large kidneys with ectasia of collecting ducts. In the kidney, FPC predominantly localizes to the apical domain of tubule cells, where it associates with the basal bodies ...
Weiyi Mai +13 more
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