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 16 of 16 for “"PKD1"”.
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The Role of Pkd1 in Mouse Inner Ear Hair Cells
<p>The <em>polycystic kidney disease-1</em> (<em>Pkd1</em>) gene encodes a large transmembrane protein (polycystin-1 or PC-1) that is reported to function as a fluid flow-sensor in the kidney. As a member of the transient receptor potential (TRP) family, PC-1 has also been hypothesized to play a …
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REGULATION OF CANCER METASTASIS BY PROTEIN KINASE D1: A GLOBAL REGULATORY CASCADE
<p>Protein Kinase D1 (PKD1) is a serine threonine kinase which is downregulated in Prostate, Breast and Colon Cancer. It functions as a tumor suppressor in different cancer cells. Downregulation of PKD1 is known to be associated with aggressiveness of the cancer. PKD1 is known to regulate many key …
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Molecular Mechanisms of Metabolic Reprogramming in Pancreatic Cancer
… dissertation, we investigated that MUC13 and PKD1 proteins are involved in abrupt glucose metabolism in pancreatic cancer cells. We have demonstrated that targeted overexpression of these oncogenes upregulates key oncogenic signaling components involved in aberrant glucose metabolism in …
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Cryo-EM reveals how adeno-associated virus engages its receptor AAVR and an investigation of the GPR108 ectodomain
… cellular 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 …
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The role of Rnd3 in kidney morphogenesis and function
… phenotypes. 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 …
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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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Protein Kinase D1 in Myeloid Cells Promotes Disease Progression and Severity in S. rectivirgula Induced Hypersensitivity Pneumonitis
… expressed by these cells. Protein kinase D1 (PKD1) has previously been identified as a critical signaling molecule in the TLR signaling pathways of all TLR family members except for TLR3. Our previous research found that activation of protein kinase D1 (PKD1) in the lungs following exposures …
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Targeting Glutamine Metabolism in Kidney Development and Polycystic Kidney Disease
… in 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 …
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Inhibition of AMPK via phosphorylation at Ser485/491: multiple mechanisms of regulation
… diabetic mice. Our results suggest that Akt- and PKD1-mediated inhibition of AMPK via Ser485/491 phosphorylation may inhibit energy-metabolizing processes, while favoring energy-storing processes. Our results highlight the fact that phosphorylation of Ser485/491 can inhibit AMPK activity …
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Molecular diagnosis in inherited polycystic kidney disease
… share >97% homology to the main disease gene (PKD1). This thesis addresses the sequencing and variant interpretation challenges encountered in the molecular diagnosis of PKD. In addition, mechanisms of cyst formation are explored. These studies demonstrate that Whole Genome Sequencing (WGS) is …
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Leveraging cellular models of polycystic kidney disease for mechanistic discovery and therapeutic development
… commonly 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 …
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Funktionelle Interaktion von Polycystin 2 und TRPV4
… bis 1:1000 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, …
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An in vivo study of novel genetic modifiers in autosomal recessive polycystic kidney disease (ARPKD)
… of key PKD and Wnt signalling genes, including Pkd1, Atmin and Vangl2. Interestingly, RNA-sequencing analysis also identified Aqp2, Foxf1 and Igfbp2 as novel Pkhd1 targets in the lung, as well as dysregulation of STAT3 signalling in Pkhd1T37M/T37M mice. Together, this data further highlights …
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Caractérisation du rôle du récepteur P2X7 dans le transport du glucose par les cellules épithéliales intestinales et le contrôle de la glycémie et du métabolisme
… les protéines PI4K, PLC[gamma]-1, PKC[delta] et PKD1. Nous avons alors entrepris une série d’études pour déterminer quel était l’impact d’une délétion du gène P2rx7 sur le métabolisme du glucose dans un modèle de souris pour lequel l’expression de P2rx7 est invalidée (P2rx7-/-). Dans ce modèle, …
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Étude fonctionnelle de la polycystine-1 dans les cellules épithéliales intestinales humaines
La polycystine-1 (PC1), codée par le gène PKD1, joue un rôle important dans la différenciation terminale des cellules épithéliales rénales. Des mutations dans ce gène entraînent une polykystose rénale. Lors du développement de ce syndrome, les cellules épithéliales deviennent partiellement …
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Na,K-ATPase signaling in cyst progression in autosomal dominant polycystic kidney disease
… failure. 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 …