Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 20 for “"Pkd2."”.
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The role of Rnd3 in kidney morphogenesis and function
… ADPKD is caused by mutations in PKD1 and PKD2. The phenotypic variability of ADPKD can be attributed to genic, allelic and gene modifier effects. To understand the involvement of modifier genes in the onset and development of ADPKD phenotypes, a novel mouse model Rnd3tm1b(EUCOMM)Hmgu was …
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Exploring the Role of PKD Enzymes in the Innate and Adaptive cells of the Mammalian Immune System
… in the adaptive immune system where murine PKD2 was shown to be essential for normal peripheral CD4+ and CD8+ cytotoxic T lymphocyte function in vivo. PKD enzymes are known to be involved in adaptive immunity but it is not known if this is true for PKD in cells of the myeloid lineage, …
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Cryo-EM reveals how adeno-associated virus engages its receptor AAVR and an investigation of the GPR108 ectodomain
… receptor AAVR, the domains named PKD1 and PKD2. Our previous studies of the AAV2 capsid with its cellular receptor AAVR allowed us to visualize the essential interactions of AAV with the PKD2 domain of AAVR. However, the PKD1 domain of AAVR was not revealed in our previous structure, …
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Funktionelle Interaktion von Polycystin 2 und TRPV4
… betroffen. Dabei führen Mutationen im PKD1- oder PKD2 Gen zur Bildung multipler Zysten in den Nieren, was schließlich zur terminalen Niereninsuffizienz führt. Zu den extrarenalen Manifestationen der ADPKD gehören multiple Zysten in Leber und Pankreas, Kolondivertikel, Nierensteine, Herzfehler und …
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Identifying The Roles of miR-17 in Ciliogenesis and Cell Cycle
… the involvement of PGRMC2, GM3S, polycystin-2 (Pkd2), and miR-17 in cellular proliferation and cell growth. Our studies revealed a hyperproliferative effect in the knockdown cells compared to control cells, suggesting the regulatory roles of PGRMC2/GM3S/Pkd2/miR-17 in promoting cell …
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Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease
… 1997). Mutations in at least two genes (PKD1, PKD2) can lead to the disease (European PDK Consortium, 1994; Mochizuki, et al, 1996). This project deals with autosomal dominant PKD, caused by mutations in the PKD1 gene, which account for 85% of reported cases.
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Targeting Primary Cilia Immune Receptor Proteins for the Treatment of Polycystic Kidney Disease Mechanisms
… ciliary length in treated scrambled control, <em>Pkd2</em>knockout (KO) and <em>TLR4</em>KOcells as an immune response, whereas opposite results were observed with <em>TLR9</em>KO. However, the selected agonists for TLRs (LPS/ODN) increases cilia length in <em>TLR9</em>KO cells and decreases …
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Investigating WNT signalling in the lung
… and double knockdowns, as well as WNT11 and PKD2 single and double knockdowns, were performed in A549 cells to assess the interrelationship between these genes and to determine their functional effects in lung epithelial cells. Several cellular functions, including apoptosis, proliferation, …
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Regulation of sphingosine kinase 1 oncogenic signalling by calcium and integrin binding proteins
… isoform of CIB1, CIB1a, by protein kinase D2 (PKD2), I further investigated the role of this phosphorylation on SK1 signalling. Observations from these studies suggested that PKD2-mediated phosphorylation of CIB1 enhanced its interaction with SK1 and promoted relocalisation of SK1 to the plasma …
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Leveraging cellular models of polycystic kidney disease for mechanistic discovery and therapeutic development
… caused my loss-of-function mutations in PKD1 or PKD2 encoding the proteins polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Despite significant advances in our understanding of the genes and proteins underlying PKD, there remains an unmet clinical need for optimized treatment in these …
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The Role of the Ca2+-dependent protein kinase, CaMK-II, in Heart and Kidney Development in the Zebrafish, Danio rerio
… also exhibit similar defects as suppression of pkd2, the gene mutated in patients with Autosomal Dominant Polycystic Kidney disease. These roles implicate CaMK-II as an integral protein in the development and maintenance of mesodermally derived tissues.</p>
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Targeting Glutamine Metabolism in Kidney Development and Polycystic Kidney Disease
… one of the polycystins that encode the PKD1 and PKD2 proteins, the age of onset and severity of PKD cases greatly varies, suggesting other genes/processes are involved. Lkb1 is a serine-threonine kinase involved in the regulation of several molecular processes including cellular polarity, …
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Mapeamento de QTL para características de produção de leite no cromossomo 6 em rebanhos Gir Leiteiro
… Osteopontina (OPN), PPARGC1A, FAM13A1 e PKD2, onde, diferentes grupos pesquisaram possíveis associações entre genes nesta região e características de produção de leite em bovinos leiteiros, sendo uma boa alternativa saturar esta região com mais marcadores microssatélites e SNPs, para …
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Understanding HNF-1β through Identification of Interacting Proteins and Target Genes in the Kidney
… protein kinase A (PKA), and polycystin-2 (PKD2). These results identify a cAMP-regulating protein complex that is localized in the primary cilium and is disrupted in PKD.
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Molecular diagnosis in inherited polycystic kidney disease
… in identifying germline variants in PKD1 and PKD2, the main genes implicated in ADPKD. Data from the first 85 patients to undergo diagnostic sequencing demonstrated that clinically reportable variants were identified in 91% of patients with a typical ADPKD phenotype and in 56% of patients in …
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Pharmacogenetics of Tenofovir (Alafenamide or Disoproxil Fumarate Prodrug) Renal Toxicity in HIV positive Black Southern Africans
… (P = 1.5x10-4 ), rs691857 (P = 3.2x10-4 ), and PKD2 rs72659631 (P = 8.6x10-4 ), respectively. In genome-wide analyses, the lowest P-values for change in eGFR, uRBP/Cr, and uB2M/Cr were COL27A1 rs1687402 (P = 3.2x10-9 ), CDH4 rs66494466 (P = 3.4 x 10-8 ), and ITGA4 rs3770126 (P = 4.5 x10-7 ), …
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Na,K-ATPase signaling in cyst progression in autosomal dominant polycystic kidney disease
… Though it is known that mutations in PKD1 or PKD2, genes which encode the proteins polycystin-1 and polycystin-2, respectively, cause ADPKD, it is not known how alterations of either these proteins lead to cyst development and growth. Further, the progression of ADPKD is highly variable, even …
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Enhanced fertility estimation and novel ion channels in boar sperm
Cryopreserved boar sperm have many potential advantages when used for artificial insemination (AI), including increased time for pathogen testing and ease of semen transport. However, frozen boar sperm are seldom used for AI due to decreased pregnancy rates and litter sizes as a result of …