نتایج جستجو برای: pkd2
تعداد نتایج: 596 فیلتر نتایج به سال:
BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder. It is characterized by focal development and progressive enlargement of renal cysts leading to end-stage renal disease. PKD1 and PKD2 have been implicated in ADPKD pathogenesis but genetic features and the size of PKD1 make genetic diagnosis tedious. METHODS We aim to prove that high...
Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the disease in approximately 80 to 85% and 10 to 15% of the cases, respectively. Significant interfamilial and intrafamilial renal disease variability in ADPKD has been well documented. Locus heterogeneity is a m...
autosomal dominant polycystic kidney disease (adpkd) is the most common genetic nephropathy, which is characterized by replacement of renal parenchyma with multiple cysts. in iran, the disease prevalence within the chronic hemodialysis patient population is approximately 8-10%. so far, three genetic loci have been identified to be responsible for adpkd. little information is available concernin...
Background: Autosomal dominant polycystic kidney disease (ADPKD) occurs in 1 500–4000 people worldwide. Genetic mutation is a biomarker for predicting renal dysfunction patients with ADPKD. In this study, we performed genetic analysis of Japanese ADPKD to investigate the prognostic utility mutations function outcomes. Methods: Patients clinically diagnosed underwent panel test germline PKD1 and...
Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening hereditary disease in the United States, occurring in approximately one in every 400 to 1000 live births.1 ADPKD accounts for approximately 5 to 10% of end-stage renal failure in the United States requiring dialysis and renal transplantation.2 ADPKD is characterized by progressive enlargement of cyst-filled...
Matrix metalloproteinas-9 (MMP-9) is a glycosylated endopeptidase, and hence its processing between the endoplasmic reticulum (ER), Golgi and trans-Golgi (TGN) network remains under a strict control of factors that affect the microtubule (MT) stabilization, and the recruitment and activation of coat and cargo proteins, including ADP-ribosylation factors (Arfs) and protein kinase D (PKD). Here, ...
Abstract Background and Aims Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common Mendelian diseases, that can progress to end-stage failure. Pathological variants in PKD1 or PKD2 genes are found about 78% 15% respectively. Additional such as GANAB, DNAJB11, ALG8/5 have been identified ADPKD. The sequencing by short read technics with exome capture Exome (ES) has descr...
BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is genetically heterogeneous, with at least three chromosomal loci accounting for the disease. Mutations in the PKD2 gene on the long arm of chromosome 4 are expected to be responsible for approximately 15% of cases of ADPKD. METHODS We report a systematic screening for mutations covering the 15 exons of the PKD2 gene in eight un...
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