Results 141 to 150 of about 8,116 (160)
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2016
Autosomal dominant polycystic kidney disease is caused by mutation of PKD1 (polycystic kidney disease-1) or PKD2 (polycystic kidney disease-2). PKD1 and PKD2 encode PC1 (polycystin-1) and PC2 (polycystin-2), respectively. In addition, the mutation of cilia-associated proteins is also a recognized major factor of pathogenesis, since PC1 and PC2 are ...
Do Yeon Kim, Jong Hoon Park
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Autosomal dominant polycystic kidney disease is caused by mutation of PKD1 (polycystic kidney disease-1) or PKD2 (polycystic kidney disease-2). PKD1 and PKD2 encode PC1 (polycystin-1) and PC2 (polycystin-2), respectively. In addition, the mutation of cilia-associated proteins is also a recognized major factor of pathogenesis, since PC1 and PC2 are ...
Do Yeon Kim, Jong Hoon Park
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Inflammation and Fibrosis in ADPKD
2016Diverse signaling pathways have been reported to be associated with polycystic kidney disease (PKD). Cell proliferation is widely known to be an important pathway related to this disease. However, studies on the interactions of inflammation and fibrosis with polycystic kidney disease have been limited.
Jong Hoon Park, Hyowon Mun
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Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2017
Autosomal Polycystic Kidney Disease ( ADPKD) is the most common inherited renal disease. ADPKD is caused by mutations in PKD1 and PKD2, encoding polycystin 1 and 2, respectively. ADPKD is a systemic disease, with renal and extrarenal involvement. Renal disease is characterized by formation and growth of cysts, with progressive destruction of renal ...
Liut, Francesca +3 more
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Autosomal Polycystic Kidney Disease ( ADPKD) is the most common inherited renal disease. ADPKD is caused by mutations in PKD1 and PKD2, encoding polycystin 1 and 2, respectively. ADPKD is a systemic disease, with renal and extrarenal involvement. Renal disease is characterized by formation and growth of cysts, with progressive destruction of renal ...
Liut, Francesca +3 more
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Recent Trends in ADPKD Research
2016Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited disorders. It is the fourth leading cause of renal replacement and renal failure worldwide. Mutations in PKD1 or PKD2 cause ADPKD. Patients with ADPKD show progressive growth of renal cysts filled with cystic fluid, leading to end-stage renal disease (ESRD) and ...
Jong Hoon Park, Yu Bin Shin
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[Molecular diagnosis of ADPKD].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2016Most patients with ADPKD do not need molecular genetic testing. When indicated, Sanger sequencing is the most commonly used technique. When a pathogenic mutation is not identified by Sanger, multiplex ligation-dependent probe amplification analysis (MLPA) should be performed to detect gene rearrangement (insertion or deletion).
SCOLARI, Francesco +3 more
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[Next Generation Sequencing and ADPKD].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2015Autosomal Dominant Polycistic Kidney Disease (ADPKD) is the most common inherited genetic disorder in the word, caused by mutations in PKD1 gene in 85% of cases and PKD 2 gene in the remaining 15%. Although diagnosis is usually based on ultrasound, MRI and CT scans, in some cases genetic testing is necessary, for example, in patients with atypical ...
Restivo, Arianna +6 more
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2018
Our current approach to managing patients with autosomal dominant polycystic kidney disease (ADPKD) relies on our understanding that the disease affects many aspects of the patient’s physical and social life. The disease involves multiple organ systems in addition to major manifestations due to chronic kidney disease (CKD) and complications related to ...
Ronald D. Perrone +2 more
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Our current approach to managing patients with autosomal dominant polycystic kidney disease (ADPKD) relies on our understanding that the disease affects many aspects of the patient’s physical and social life. The disease involves multiple organ systems in addition to major manifestations due to chronic kidney disease (CKD) and complications related to ...
Ronald D. Perrone +2 more
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Cell Proliferation and Apoptosis in ADPKD
2016Increased tubular epithelial cell proliferation with fluid secretion is a key hallmark of autosomal dominant polycystic kidney disease (ADPKD). With disruption of either PKD1 or PKD2, the main causative genes of ADPKD, intracellular calcium homeostasis and cAMP accumulation are disrupted, which in turn leads to altered signaling in the pathways that ...
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ADPKD Channels: The Polycystins
2015The initial members of the polycystin family were first described and characterized as the proteins mutated in a common genetic disease, autosomal dominant polycystic kidney disease (ADPKD). Over the past few decades, these proteins, polycystins 1 and 2 (PC1, PC2), have been found to have a variety of cellular functions in multiple intracellular ...
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