نتایج جستجو برای: pkd2

تعداد نتایج: 596  

2011
Stanislas Bataille Yvon Berland Michel Fontes Stéphane Burtey

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...

Journal: :Journal of the American Society of Nephrology : JASN 2003
Riccardo Magistroni Ning He Kairong Wang Robin Andrew Ann Johnson Patricia Gabow Elizabeth Dicks Patrick Parfrey Roser Torra Jose L San-Millan Eliecer Coto Marjan Van Dijk Martijn Breuning Dorien Peters Nadja Bogdanova Giulia Ligabue Alberto Albertazzi Nick Hateboer Kyproula Demetriou Alkis Pierides Constantinos Deltas Peter St George-Hyslop David Ravine York Pei

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...

Journal: :iranian biomedical journal 0
رامین رادپور ramin radpour مینا رضایی mina rezaee مهدی ام حقیقی mahdi m. haghighi مینا اوحدی mina ohadi حسین نجم آبادی hossein najmabadi اصغر حاجی بیگی asghar hajibeigi

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...

Journal: :Biomolecules 2023

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...

Journal: :Journal of the American Society of Nephrology : JASN 2009
Franck A Belibi Charles L Edelstein

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...

2016
Bronislaw L. Slomiany Amalia Slomiany

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, ...

Journal: :Nephrology Dialysis Transplantation 2023

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...

Journal: :Kidney international 1999
R Torra M Viribay D Tellería C Badenas M Watson P Harris A Darnell J L San Millán

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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