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Sour Taste Responses in Mice Lacking PKD Channels  [PDF]
Nao Horio,Ryusuke Yoshida,Keiko Yasumatsu,Yuchio Yanagawa,Yoshiro Ishimaru,Hiroaki Matsunami,Yuzo Ninomiya
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0020007
Abstract: The polycystic kidney disease-like ion channel PKD2L1 and its associated partner PKD1L3 are potential candidates for sour taste receptors. PKD2L1 is expressed in type III taste cells that respond to sour stimuli and genetic elimination of cells expressing PKD2L1 substantially reduces chorda tympani nerve responses to sour taste stimuli. However, the contribution of PKD2L1 and PKD1L3 to sour taste responses remains unclear.
Polk rperdiagnostik (PKD) - Kontra  [PDF]
Dechend F
Journal für Reproduktionsmedizin und Endokrinologie , 2009,
Abstract: Die Polk rperdiagnostik (PKD) ist ein technisch sehr anspruchsvolles, derzeit noch experimentelles Verfahren, dessen tats chlicher Nutzen im Falle der Aneuploidie-Diagnostik zudem noch nicht erwiesen ist [1]. In diesem Artikel soll auf die methodischen Schwierigkeiten der PKD mittels FISH-Technik hingewiesen werden, die einerseits die Anwendung dieser Methode für die Routinediagnostik im Rahmen der In-vitro-Fertilisation in Frage stellt und andererseits auch m glicherweise die Diskrepanzen unterschiedlicher Studien erkl rt.
Pkd1 and Pkd2 Are Required for Normal Placental Development  [PDF]
Miguel A. Garcia-Gonzalez,Patricia Outeda,Qin Zhou,Fang Zhou,Luis F. Menezes,Feng Qian,David L. Huso,Gregory G. Germino,Klaus B. Piontek,Terry Watnick
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0012821
Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is a common cause of inherited renal failure that results from mutations in PKD1 and PKD2. The disorder is characterized by focal cyst formation that involves somatic mutation of the wild type allele in a large fraction of cysts. Consistent with a two-hit mechanism, mice that are homozygous for inactivating mutations of either Pkd1 or Pkd2 develop cystic kidneys, edema and hemorrhage and typically die in midgestation. Cystic kidney disease is unlikely to be the cause of fetal loss since renal function is not required to complete gestation. One hypothesis is that embryonic demise is due to leaky vessels or cardiac pathology.
Design, Synthesis, and Biological Evaluation of PKD Inhibitors  [PDF]
Kara M. George,Marie-Céline Frantz,Karla Bravo-Altamirano,Courtney R. LaValle,Manuj Tandon,Stephanie Leimgruber,Elizabeth R. Sharlow,John S. Lazo,Q. Jane Wang,Peter Wipf
Pharmaceutics , 2011, DOI: 10.3390/pharmaceutics3020186
Abstract: Protein kinase D (PKD) belongs to a family of serine/threonine kinases that play an important role in basic cellular processes and are implicated in the pathogenesis of several diseases. Progress in our understanding of the biological functions of PKD has been limited due to the lack of a PKD-specific inhibitor. The benzoxoloazepinolone CID755673 was recently reported as the first potent and kinase-selective inhibitor for this enzyme. For structure-activity analysis purposes, a series of analogs was prepared and their in vitro inhibitory potency evaluated.
High Resolution Melt analysis for mutation screening in PKD1 and PKD2
Stanislas Bataille, Yvon Berland, Michel Fontes, Stéphane Burtey
BMC Nephrology , 2011, DOI: 10.1186/1471-2369-12-57
Abstract: We aim to prove that high resolution melt analysis (HRM), a recent technique in molecular biology, can facilitate molecular diagnosis of ADPKD. We screened for mutations in PKD1 and PKD2 with HRM in 37 unrelated patients with ADPKD.We identified 440 sequence variants in the 37 patients. One hundred and thirty eight were different. We found 28 pathogenic mutations (25 in PKD1 and 3 in PKD2 ) within 28 different patients, which is a diagnosis rate of 75% consistent with literature mean direct sequencing diagnosis rate. We describe 52 new sequence variants in PKD1 and two in PKD2.HRM analysis is a sensitive and specific method for molecular diagnosis of ADPKD. HRM analysis is also costless and time sparing. Thus, this method is efficient and might be used for mutation pre-screening in ADPKD genes.Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary kidney disorder affecting approximately one in 500 to one in 1000 human live births [1]. It is characterized by focal development and progressive enlargement of renal cysts, leading to end-stage renal disease (ESRD) [2].ADPKD is genetically heterogeneous and involves two genes, PKD1 (MIM 601313, chromosome region 16p13.3) [3] and PKD2 (MIM 173910, 4q21-22) [4]. Mutations in PKD1 account for approximately 85% of ADPKD cases and are associated with a more severe disease than PKD2 . The median age at onset of ESRD is 54.3 [52.7-55.9] years for individuals with mutation in PKD1 compared to 74.0 [67.2-80.8] years in PKD2 [5]. It has been hypothesized that a third gene could be implicated in ADPKD [6] but there is no evidence for this.Genetic analysis of ADPKD is difficult owing to the existence of at least two distinct genes that can cause disease and the lack of an exhaustive list of PKD1 and PKD2 mutations that are associated with it. Genomic features of PKD1 also cause difficulty in identifying sequence variants [7]. The open reading frame of PKD1 is approximately 13 kb split in 46 exons. Exons 1-33 are duplica
Role of PKD2 in Rheotaxis in Dictyostelium  [PDF]
Wanessa C. Lima, Adrien Vinet, Jean Pieters, Pierre Cosson
PLOS ONE , 2014, DOI: 10.1371/journal.pone.0088682
Abstract: The sensing of mechanical forces modulates several cellular responses as adhesion, migration and differentiation. Transient elevations of calcium concentration play a key role in the activation of cells following mechanical stress, but it is still unclear how eukaryotic cells convert a mechanical signal into an ion flux. In this study, we used the model organism Dictyostelium discoideum to assess systematically the role of individual calcium channels in mechanosensing. Our results indicate that PKD2 is the major player in the cell response to rheotaxis (i.e., shear-flow induced mechanical motility), while other putative calcium channels play at most minor roles. Mutant pkd2 KO cells lose the ability to orient relative to a shear flow, whereas their ability to move towards a chemoattractant is unaffected. PKD2 is also important for calcium-induced lysosome exocytosis: WT cells show a transient, 2-fold increase in lysosome secretion upon sudden exposure to high levels of extracellular calcium, but pkd2 KO cells do not. In Dictyostelium, PKD2 is specifically localized at the plasma membrane, where it may generate calcium influxes in response to mechanical stress or extracellular calcium changes.
PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease
Katja Vouk, Lana Strmecki, Jitka Stekrova, Jana Reiterova, Matjaz Bidovec, Petra Hudler, Anton Kenig, Simona Jereb, Irena Zupanic-Pajnic, Joze Balazic, Guido Haarpaintner, Bostjan Leskovar, Anton Adamlje, Antun Skoflic, Reina Dovc, Radovan Hojs, Radovan Komel
BMC Medical Genetics , 2006, DOI: 10.1186/1471-2350-7-6
Abstract: We collected samples from 36 Slovene ADPKD families and performed linkage analysis in 16 of them. Linkage was assessed by the use of microsatellite polymorphic markers, four in the case of PKD1 (KG8, AC2.5, CW3 and CW2) and five for PKD2 (D4S1534, D4S2929, D4S1542, D4S1563 and D4S423). Partial PKD1 mutation screening was undertaken by analysing exons 23 and 31–46 and PKD2 .Lod scores indicated linkage to PKD1 in six families and to PKD2 in two families. One family was linked to none and in seven families linkage to both genes was possible. Partial PKD1 mutation screening was performed in 33 patients (including 20 patients from the families where linkage analysis could not be performed). We analysed PKD2 in 2 patients where lod scores indicated linkage to PKD2 and in 7 families where linkage to both genes was possible. We detected six mutations and eight polymorphisms in PKD1 and one mutation and three polymorphisms in PKD2.In our study group of ADPKD patients we detected seven mutations: three frameshift, one missense, two nonsense and one putative splicing mutation. Three have been described previously and 4 are novel. Three newly described framesfift mutations in PKD1 seem to be associated with more severe clinical course of ADPKD. Previously described nonsense mutation in PKD2 seems to be associated with cysts in liver and milder clinical course.Autosomal dominant polycystic kidney disease (ADPKD; MIM:173900) is a common genetic disease of the kidney, with a population frequency of ~0.1% [1]. It is characterized by progressive renal cystic disease, typically leading to end-stage renal disease (ESRD) in late middle age. ADPKD accounts for approximately 5% of ESRD in western countries. The rate of progression towards kidney failure is variable and whilst end-stage renal failure (ESRF) most commonly occurs in the fifth decade [2] it can present as early as in utero whereas some individuals may never progress to renal failure [3-5]. The disorder is geneticaly heterog
Chromosomal evolution of the PKD1 gene family in primates
Stefan Kirsch, Juanjo Pasantes, Andreas Wolf, Nadia Bogdanova, Claudia Münch, Petra Pennekamp, Michael Krawczak, Bernd Dworniczak, Werner Schempp
BMC Evolutionary Biology , 2008, DOI: 10.1186/1471-2148-8-263
Abstract: Comparative FISH with the PKD1-cDNA clone clearly shows that in all primate species studied distinct single signals map in subtelomeric chromosomal positions orthologous to the short arm of human chromosome 16 harbouring the master PKD1 gene. Only in human and African great apes, but not in orangutan, FISH with both BAC and cDNA clones reveals additional signal clusters located proximal of and clearly separated from the PKD1 master genes indicating the chromosomal position of PKD1 pseudogenes in 16p of these species, respectively. Indeed, this is in accordance with sequencing data in human, chimpanzee and orangutan. Apart from the master PKD1 gene, six pseudogenes are identified in both, human and chimpanzee, while only a single-copy gene is present in the whole-genome sequence of orangutan. The phylogenetic reconstruction of the PKD1-tree reveals that all human pseudogenes are closely related to the human PKD1 gene, and all chimpanzee pseudogenes are closely related to the chimpanzee PKD1 gene. However, our statistical analyses provide strong indication that gene conversion events may have occurred within the PKD1 family members of human and chimpanzee, respectively.PKD1 must have undergone amplification very recently in hominid evolution. Duplicative transposition of the PKD1 gene and further amplification and evolution of the PKD1 pseudogenes may have arisen in a common ancestor of Homo, Pan and Gorilla ~8 MYA. Reticulate evolutionary processes such as gene conversion and non-allelic homologous recombination (NAHR) may have resulted in concerted evolution of PKD1 family members in human and chimpanzee and, thus, simulate an independent evolution of the PKD1 pseudogenes from their master PKD1 genes in human and chimpanzee.Autosomal dominant polycystic kidney disease (ADPKD) is a late onset systemic disorder characterised by the progressive development of multiple fluid filled cysts in the kidney, ultimately leading to renal failure [1]. Peters and Sandkuijl [2] es
Low Power Design for ASIC Cores  [PDF]
Alvar Dean,David Garrett,Mircea R. Stan,Sebastian Ventrone
VLSI Design , 2001, DOI: 10.1155/2001/90464
Abstract: A semicustom ASIC design methodology is used to develop a low power DSP core for mobile (battery powered) applications. Different low power design techniques are used, including dual voltage, low power library elements, accurate power reporting, pseudomicrocode, transition-once logic, clock gating, and others.
Prof Sandip Nemade Mr Mohd Ahmed
International Journal of Electronics Communication and Computer Engineering , 2011,
Abstract: FPGA devices are an important component in many modern devices. This means that it is important that VLSI designers have a thorough knowledge of how to optimize designs for FPGAs. While the design flows for ASICs and FPGAs are similar, there are many differences as well due to the limitations inherent in FPGA devices. To be able to use an FPGA efficiently it is important to be aware of both the strengths and weaknesses of FPGAs. If an FPGA design should be ported to an ASIC at a later stage it is also important to take this into account early in the design cycle so that the ASIC port will be efficient. This paper investigates as how to optimize a design for an FPGA and what steps should be taken in the design to enable seamless porting from FPGA to ASICS for volume production
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