Homozygous Missense Mutation on Exon 22 of PKHD1 Gene Causing Fatal Autosomal Recessive Polycystic Kidney Disease [PDF]
Journal of Child Science, 2021 AbstractAutosomal recessive polycystic kidney disease, described as a congenital hepatorenal fibrocystic syndrome, is a significant inherited cause of end stage renal failure in children with reported incidence of 1 in 20,000 live births. The clinical spectrum is wide.
Sajina Sathyan +6 more
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Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants [PDF]
Kidney International, 2021 Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin.
Kathrin Burgmaier +99 more
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Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1 [PDF]
Frontiers in GeneticsBackgroundTo investigate whether the novel mutation of PKHD1 could cause polycystic kidney disease by affecting splicing with a recessive inheritance pattern.MethodsA nonconsanguineous Chinese couple with two recurrent pregnancies showed fetal enlarged ...
Xinrong Zhang +22 more
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PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells [PDF]
Proceedings of the National Academy of Sciences, 2004 Mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene have been shown to cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (PKHD1) remain uncharacterized. To illuminate its properties, the spatial and temporal expression patterns of PKHD1 were determined in mouse, rat, and human ...
Ming-Zhi Zhang +25 more
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Multi-omics analysis of host-microbiome interactions in a mouse model of congenital hepatic fibrosis [PDF]
BMC MicrobiologyBackground Congenital hepatic fibrosis (CHF) caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene is a rare genetic disorder with poorly understood pathogenesis.
Mengfan Jiao +8 more
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Reduction of elevated Gli3 does not alter the progression of autosomal recessive polycystic kidney disease. [PDF]
Physiol RepAbstract Polycystic 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 PKD (ADPKD).
Russell LG +11 more
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PKHD1 Gene Silencing May Cause Cell Abnormal Proliferation through Modulation of Intracellular Calcium in Autosomal Recessive Polycystic Kidney Disease [PDF]
BMB Reports, 2007 Autosomal recessive polycystic kidney disease (ARPKD) is one of the important genetic disorders in pediatric practice. Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of ARPKD. The gene encodes a 67-exon transcript for a large protein of 4074 amino acids termed fibrocystin, but its function remains ...
Yang Ji-yun +6 more
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Coincidence the Autosomal Recessive Polycystic Kidney Disease With Placenta Membranacea (A Probably Genetic Relation with PKHD1 Gene) [PDF]
Zahedan Journal of Research in Medical Sciences, 2016 : Placenta membranacea is one of the most barley anomalies happens in pregnancy defined by chorionic villi (partially or completely) covered the fetus membrane. Autosomal recessive polycystic kidney disease in fetus is also a rare case with an incidence of 1: 20,000 live births resulting in a 30% death rate in neonates. In this case for the first time,
Ehsan Hosseini +2 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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Tissue-specific regulation of the mousePkhd1(ARPKD) gene promoter
American Journal of Physiology-Renal Physiology, 2014 Autosomal recessive polycystic kidney disease, an inherited disorder characterized by the formation of cysts in renal collecting ducts and biliary dysgenesis, is caused by mutations of the polycystic kidney and hepatic disease 1 ( PKHD1) gene. Expression of PKHD1 is tissue specific and developmentally regulated.
R. Scott Williams +7 more
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