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Showing 1 to 20 of 20 for “"ADPKD"”.
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The role of sphingolipids in autosomal dominant polycystic kidney disease (ADPKD)
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of renal cysts and eventual renal failure. There is currently no cure for ADPKD, but various treatments are available to alleviate the symptoms. In ADPKD, cystic renal epithelia are prevalent …
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Health Care Resource Utilization and Expenditures in Persons with Autosomal Dominant Polycystic Kidney Disease
… of autosomal dominant polycystic kidney disease (ADPKD), to determine all-cause health care resource utilization and all-cause health care expenditures, to determine incremental health care resource utilization, and to determine incremental health care expenditures associated with ADPKD. An …
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Na,K-ATPase signaling in cyst progression in autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic disorder of the kidney, affecting 1:500-1000 live births across the world. It is characterized by the formation and growth of fluid-filled cysts which grow larger throughout the lifetime of the patient, eventually …
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Assessing Disease Modifying Therapies in Autosomal Dominant Polycystic Kidney Disease
… in autosomal dominant polycystic kidney disease (ADPKD) and is a key therapeutic target. Evaluation of high water intake (HWI) as an alternative to pharmacological vasopressin blockade is supported by patients. However the feasibility, safety and adherence-promoting strategies required to deliver …
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Molecular diagnosis in inherited polycystic kidney disease
… Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent, with an estimated prevalence of 1:1000. Though common, there are numerous challenges in clinical and molecular diagnosis of ADPKD due to clinical heterogeneity and sequence specific challenges related to pseudogenes that …
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Μελέτη της σωληναριακής μεταφοράς του ουρικού οξέος στην πολυκυστική νόσο των ενηλίκων με τη χρήση των δοκιμασιών πυραζιναμίδης και προβενεκίδης
… with adult dominant polycystic kidney disease (ADPKD), 25 with normal renal function and the rest with various degrees of chronic renal failure. The above 58 patients were compared to 21 healthy persons and 42 patients suffering from glomerulonephritis (G/N) (among them 11 with normal renal …
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The role of Rnd3 in kidney morphogenesis and function
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is an adult-onset, multi-systemic disorder, which affects ~12.5 million people worldwide. ADPKD is characterised by progressive kidney enlargement caused by continuous growth of cysts, alongside extra-renal phenotypes. ADPKD is caused by …
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ROLE OF THE Na,K-ATPase IN POLYCYSTIC KIDNEY DISEASE
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic disease, and is characterized by multiple fluid-filled cysts that impair the organ, ultimately leading to renal failure. Formation and enlargement of the cysts require abnormal proliferation and cell death, as well as …
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The structural and functional characterisation of the PLAT domain of polycystin-1
Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest monogenic disorders of man, affecting approximately 1 in 1000 of the world’s population. It is characterised by the progressive development and expansion of renal cysts, which eventually replace the normal architecture of …
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Genetic and non-genetic factors involved in modifying the clinical severity of autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common Mendelian disorders, affecting approximately 1 in 1000 individuals. The disease is recognised as a systemic disorder, which expresses a complex phenotype between and within families. Mutations in at least two genes (PKDI …
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DIETARY FACTORS ASSOCIATED WITH THE PROGRESSION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
… of autosomal dominant polycystic kidney disease (ADPKD). However, no studies have been conducted to control such dietary constituents. Body mass index (BMI) and high-density lipoprotein (HDL), factors associated with dietary behaviors, have also been reported to associate with ADPKD progression …
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Funktionelle Interaktion von Polycystin 2 und TRPV4
… dominante polyzystische Nierenerkrankung (ADPKD) ist eine der häufigsten monogenen Erberkrankungen weltweit. Sowohl Frauen, als auch Männer sind in einer Häufigkeit von 1:400 bis 1:1000 betroffen. Dabei führen Mutationen im PKD1- oder PKD2 Gen zur Bildung multipler Zysten in den Nieren, was …
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Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected …
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The nanomechanics of polycystin-1: A kidney mechanosensor
… Autosomal Dominant Polycystic Kidney Disease (ADPKD), which is a leading cause of renal failure. The available evidence suggests that PC1 acts as a mechanosensor, receiving signals from the primary cilia, neighboring cells, and extracellular matrix. PC1 is a large membrane protein that has a …
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Dynamic Molecular Mechanisms and Drug Design of Important Therapeutic Targets
… autosomal dominant polycystic kidney disease (ADPKD). Moreover, small ubiquitin-like modifiers (SUMO) play an important role in regulation of post-translational modifications. Alterations in the SUMO E1 enzymes is linked to life-threatening neurogenerative disorders, viral infections and …
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Development of Therapies to Treat Polycystic Kidney Disease
… autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The focus of the studies in this thesis has been on ADPKD. The disease progresses slowly and the fluid-filled cysts grow in size due to increased rates of cell proliferation and fluid …
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QUiLT (Quantitative Ultrasound in Longitudinal Tissue Tracking): Stitching 2D images into 3D Volumes for Organ Health Monitoring
… as autosomal dominant polycystic kidney disease (ADPKD) and chronic liver disease (CLD). Unlike 2D property maps, 3D property maps allow for precise, consistent, and accurate longitudinal comparison because they eliminate the variabil- ities associated with the underlying image acquisition …
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Beeinflussung der zellulären Kalzium Homöostase durch Polyzystin 2
Die Arbeit beschäftigt sich mit der Beeinflussung der Kalzium Homöostase von Zellen durch das Protein Polyzystin 2. Dieses Protein ist bei ca 15% der Fälle von Autosomal Dominanter Polyzystischer Nierenerkrankung verändert.
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Exom-Sequenzierung bei unklarer chronischer Niereninsuffizienz anhand definierter renaler Biopsiemerkmale
Das Ziel dieser Arbeit war die Identifikation und Assoziation nierenpathogener Gen-Varianten mit dem klinischen Phänotyp einer chronischen Niereninsuffizienz (CKD) durch chronisch tubulo-interstitielle Nephritis (CIN) unbekannter Ursache bei Erwachsenen. Die Auswahl der Studienkohorte erfolgte …
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Autosomal dominante polyzystische Nierenerkrankung : der Transport von Polyzystin 2 wird phosphorylierungsabhängig von PACS-1 reguliert
Die beiden integralen Membranproteine Polyzystin 1 und Polyzystin 2 sind bei der Mehrzahl der Menschen mutiert, die an der Autosomal Dominanten Polyzystischen Nierenerkrankung leiden, einer Erkrankung, die in erster Linie durch Nierenzysten und fortschreitendes Nierenversagen charakterisiert wird. …