نتایج جستجو برای: arpkd
تعداد نتایج: 183 فیلتر نتایج به سال:
Congenital hepatic fibrosis (CHF) is a rare, autosomal recessive disorder, clinically characterized by hepatic fibrosis and portal hypertension. CHF results from ductal plate malformation (DPM) of the intrahepatic bile ducts. Four clinical forms can be observed: portal hypertensive, cholangitic, mixed and latent. CHF is one of the "fibropolycystic diseases" which also include several conditions...
The congenital polycystic kidney (cpk) mutation is the most extensively characterized mouse model of polycystic kidney disease (PKD). The renal cystic disease is fully expressed in homozygotes and is strikingly similar to human autosomal recessive PKD (ARPKD), whereas genetic background modulates the penetrance of the corresponding defect in the developing biliary tree. We now describe the posi...
Polycystic kidney disease (PKD) is a multisystem disorder characterized by the formation of cysts within the kidneys. PKD is mainly caused by the unfolding of its immunoglobulin-like PKD domains. There are two major forms of PKD; autosomal dominant (ADPKD) that caused by mutations of PKD1 and PKD2 (1) and autosomal recessive (ARPKD) caused by mutations in PKHD1 gene (2,3). Although, cellular ch...
Amiloride-sensitive sodium entry, via the epithelial sodium channel (ENaC), is the rate-limiting step for Na+ absorption in kidney collecting ducts, and epidermal growth factor (EGF) inhibits Na+ transport and ENaC expression. A pathognomonic feature of polycystic kidney disease (PKD) is EGF receptor mislocalization to the apical plasma membrane and EGF/EGF receptor axis overactivity. Immunohis...
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