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Polycystic Kidney Disease Drug Development: A Conference Report
Autosomal dominant polycystic kidney disease (ADPKD) is part of a spectrum of inherited diseases that also includes autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and an expanding group of recessively ...
Max C. Liebau+4 more
doaj
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]
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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Dual mTOR/PI3K inhibition limits PI3K-dependent pathways activated upon mTOR inhibition in autosomal dominant polycystic kidney disease [PDF]
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of kidney cysts leading to kidney failure in adulthood. Inhibition of mammalian target of rapamycin (mTOR) slows polycystic kidney disease (PKD) progression in ...
Arcaro, Alexandre+10 more
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We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1.
Takuya Sakyu+7 more
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Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats [PDF]
Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats.BackgroundAdvances in the understanding of cystogenesis, identification of the PKHD1 gene and availability of a rat model (the PCK rat) caused by a Pkhd1 mutation ...
Avner, Ellis D.+6 more
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Role of CFTR in Autosomal Recessive Polycystic Kidney Disease [PDF]
Abstract. An extensive body of in vitro data implicates epithelial chloride secretion, mediated through cystic fibrosis transmembrane conductance regulator (CFTR) protein, in generating or maintaining fluid filled cysts in MDCK cells and in human autosomal dominant polycystic kidney disease (ADPKD).
Ellis D. Avner+4 more
openaire +2 more sources
Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder but even rarer in Africans and it is one of the causes of nephropathies in childhood.
Olufunke Bolaji+6 more
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Renal cysts in children: a single centre study
Kidney cysts may be congenital (associated or not with genetic disorders) or rarely acquired. They may be an isolated abnormality or be part of an anomaly syndrome.
Anna Medyńska+5 more
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Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease [PDF]
In 15 pregnancies at risk of the autosomal recessive type of polycystic kidney disease (ARPKD), there were six recurrences (40%), five of which were diagnosed prenatally between 17 and 26 weeks (mean, 22 weeks).
Niermeijer, M.F. (Martinus)+3 more
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The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal ...
Anup Hazra+3 more
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