نتایج جستجو برای: arpkd

تعداد نتایج: 183  

2002
Anna-Maria Nahm Daniel Ernesto Henriquez Eberhard Ritz

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and is often encountered in the work-up of renal patients. The diagnosis is obvious in advanced stages, but may be very difficult in young individuals in whom the need to provide a correct diagnosis is particularly pressing. By ultrasonography cysts are round or oval, echolucent, thin-walled, clea...

Journal: :American journal of physiology. Renal physiology 2014
Scott S Williams Patricia Cobo-Stark Sachin Hajarnis Karam Aboudehen Xinli Shao James A Richardson Vishal Patel Peter Igarashi

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. Here, we show that a 2.0-kb genomic fragment containing the proximal promoter of mou...

Journal: :Jurnal Ilmiah Kedokteran Wijaya Kusuma 2021

The hereditary forms of polycystic kidney disease autosomal dominant PKD (ADPKD) and recessive (ARPKD) are the main forms. ADPKD is a multifactorial disorder characterized by bilateral renal cysts commonly affects adult patients. most common extrarenal manifestations liver often incidental findings clinically insignificant. A case report has been reported with in kidneys autoimmune hemolytic an...

Journal: :American journal of physiology. Renal physiology 2014
Alexander Staruschenko

A MAJORITY of growth factors, including members of the epidermal growth factors (EGF) family, are synthesized as proproteins, requiring cleavage for the mediation of some of their functions. This pro-protein cleavage of the EGF family members is performed by disintegrin and metalloprotease (ADAM) family members and matrix metalloproteinases (MMPs) and is tightly regulated by various factors (9)...

2010
Christian R Halvorson Matthew S Bremmer Stephen C Jacobs

Both autosomal dominant and recessive polycystic kidney disease are conditions with severe associated morbidity and mortality. Recent advances in the understanding of the genetic and molecular pathogenesis of both ADPKD and ARPKD have resulted in new, targeted therapies designed to disrupt cell signaling pathways responsible for the abnormal cell proliferation, dedifferentiation, apoptosis, and...

Journal: :Human molecular genetics 2006
Yuliang Wu Xiao-Qing Dai Qiang Li Carl X Chen Weiyi Mai Zahir Hussain Wentong Long Nicolás Montalbetti Guochun Li Richard Glynne Shaohua Wang Horacio F Cantiello Guanqing Wu Xing-Zhen Chen

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1, encoding polycystin-1 (PC1), or PKD2 (polycystin-2, PC2). Autosomal recessive PKD (ARPKD) is caused by mutations in PKHD1, encoding fibrocystin/polyductin (FPC). No molecular link between ADPKD and ARPKD has been determined. Here, we demonstrated, by yeast two-hybrid and biochemical assays, that KIF3B, a motor ...

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