Results 51 to 60 of about 10,632 (251)

Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats [PDF]

open access: yes, 2004
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
core   +1 more source

Renal cysts in children: a single centre study

open access: yesPediatria i Medycyna Rodzinna, 2018
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
doaj   +1 more source

Dominant and Recessive Polycystic Kidney Disease: A Novel Molecular Diagnostics Approach Based on Next-Generation Sequencing [PDF]

open access: yes, 2017
Polycystic Kidney Disease (PKD) is the most common genetic cause of kidney failure in children and adults and can be inherited as an autosomal dominant trait (ADPKD) or an autosomal recessive trait (ARPKD). ADPKD is the most common form, characterized by
Minardi, Raffaella <1987>
core   +1 more source

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

open access: yesClinical Case Reports, 2023
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
doaj   +1 more source

Role of CFTR in Autosomal Recessive Polycystic Kidney Disease [PDF]

open access: yesJournal of the American Society of Nephrology, 2001
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

Autopsy Report with Clinical and Pathophysiologic Discussion of Autosomal Dominant Adult Polycystic Kidney Disease

open access: yesCase Reports in Urology, 2014
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
doaj   +1 more source

Type IV choledochal cyst with polycystic kidney disease: a case report

open access: yesBMC Gastroenterology, 2020
Background Choledochal cysts are divided into 5 types. Physicians believe that Caroli disease (which refers to type V biliary cysts) is a special type of biliary cyst caused by a mutation in the PKHD1 gene and is associated with autosomal recessive ...
Yuxin He, Zhuwen Yu, Weichang Chen
doaj   +1 more source

Dual mTOR/PI3K inhibition limits PI3K-dependent pathways activated upon mTOR inhibition in autosomal dominant polycystic kidney disease [PDF]

open access: yes, 2018
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
core   +2 more sources

Distinct roles of transcription factors EGL-46 and DAF-19 in specifying the functionality of a polycystin-expressing sensory neuron necessary for C. elegans male vulva location behavior [PDF]

open access: yes, 2003
Caenorhabditis elegans polycystins LOV-1 and PKD-2 are expressed in the male-specific HOB neuron, and are necessary for sensation of the hermaphrodite vulva during mating. We demonstrate that male vulva location behavior and expression of lov-1 and pkd-2
Bürglin, Thomas R.   +3 more
core   +1 more source

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