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https://www.readbyqxmd.com/read/29454195/chrna4-variant-causes-paroxysmal-kinesigenic-dyskinesia-and-genetic-epilepsy-with-febrile-seizures-plus
#1
Yong-Li Jiang, Fang Yuan, Ying Yang, Xiao-Long Sun, Lu Song, Wen Jiang
PURPOSE: Paroxysmal kinesigenic dyskinesia (PKD) and epilepsy are thought to have a shared genetic etiology. PRRT2 has been identified as a causative gene of both disorders. In this study, we aim to explore the potential novel causative gene in a PRRT2-negative family with three individuals diagnosed with PKD or genetic epilepsy with febrile seizures plus (GEFS+). METHODS: Clinical data were collected from all the affected and unaffected members of a PKD/GEFS+ family...
February 10, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29420817/glutamine-metabolism-via-glutaminase-1-in-autosomal-dominant-polycystic-kidney-disease
#2
Irfana Soomro, Ying Sun, Zhai Li, Lonnette Diggs, Georgia Hatzivassiliou, Ajit G Thomas, Rana Rais, Barbara S Slusher, Stefan Somlo, Edward Y Skolnik
Background: Metabolism of glutamine by glutaminase 1 (GLS1) plays a key role in tumor cell proliferation via the generation of ATP and intermediates required for macromolecular synthesis. We hypothesized that glutamine metabolism also plays a role in proliferation of autosomal-dominant polycystic kidney disease (ADPKD) cells and that inhibiting GLS1 could slow cyst growth in animal models of ADPKD. Methods: Primary normal human kidney and ADPKD human cyst-lining epithelial cells were cultured in the presence or absence of two pharmacologic inhibitors of GLS1, bis-2-(5-phenylacetamido-1,2,4-thiadiazol-2-yl)ethyl sulfide 3 (BPTES) and CB-839, and the effect on proliferation, cyst growth in collagen and activation of downstream signaling pathways were assessed...
February 5, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29411465/association-mapping-reveals-candidate-loci-for-resistance-and-anemic-response-to-an-emerging-temperature-driven-parasitic-disease-in-a-wild-salmonid-fish
#3
F Ahmad, P V Debes, G Palomar, A Vasemägi
Even though parasitic infections are often costly or deadly for the host, we know very little which genes influence parasite susceptibility and disease severity. Proliferative kidney disease (PKD) is an emerging and, at elevated water temperatures, potentially deadly disease of salmonid fishes that is caused by the myxozoan parasite Tetracapsuloides bryosalmonae. By screening > 7.6 K SNPs in 255 wild brown trout (Salmo trutta) and combining association mapping and random forest approaches, we identified several candidate genes for both the parasite resistance (inverse of relative parasite load; RPL) and the severe anemic response to the parasite...
February 7, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29384485/tetracapsuloides-bryosalmonae-persists-in-brown-trout-salmo-trutta-for-five-years-post-exposure
#4
Hatem Soliman, Gokhlesh Kumar, Mansour El-Matbouli
Tetracapsuloides bryosalmonae is a malacosporean parasite and the causative agent of proliferative kidney disease (PKD) that seriously impacts farmed and wild salmonids. The parasite's life cycle includes an invertebrate host, the bryozoan Fredericella sultana, and a vertebrate host, salmonid fish. The persistence of T. bryosalmonae in brown trout Salmo trutta for up to 2 yr following exposure is well documented. Results from the present study confirmed that one brown trout that had recovered from PKD did not completely clear the parasite from its tissues and that T...
January 31, 2018: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/29380239/vegf-pkd-1-signaling-mediates-arteriogenic-gene-expression-and-angiogenic-responses-in-reversible-human-microvascular-endothelial-cells-with-extended-lifespan
#5
Brad Best, Patrick Moran, Bin Ren
Microvascular ECs (MVECs) are an ideal model in angiogenesis research. The aim of this study was to determine vascular endothelial growth factor (VEGF)/protein kinase D1 (PKD-1) signaling in expression of arteriogenic genes in human MVECs. To achieve this aim, we transduced specific SV40 large T antigen and telomerase into primary human dermal MVECs (HMVEC-D) to establish reversible HMVECs with extended lifespan (HMVECi-D). HMVECi-D was then exposed to VEGF/VEGF-inducer GS4012 or transduced with constitutively active protein kinase PKD-1 (PKD-CA)...
January 29, 2018: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/29334840/transcallosal-conduction-in-paroxysmal-kinesigenic-dyskinesia
#6
Tayfun Kasikci, Semai Bek, Guray Koc, Mehmet Yucel, Yasar Kutukcu, Zeki Odabasi
OBJECTIVES: Detecting whether a possible disequilibrium between the excitatory and inhibitory interhemispheric interactions in paroxysmal kinesigenic dyskinesia (PKD) exists. METHODS: This study assessed measures of motor threshold, motor evoked potential latency, the cortical silent period, the ipsilateral silent period and the transcallosal conduction time (TCT) in PKD patients. Data were compared between the clinically affected hemisphere (aH) and the fellow hemisphere (fH)...
January 15, 2018: Somatosensory & Motor Research
https://www.readbyqxmd.com/read/29321346/mutational-screening-of-pkd2-gene-in-the-north-indian-polycystic-kidney-disease-patients-revealed-28-genetic-variations
#7
Sonam Raj, Rana Gopal Singh, Parimal Das
Polycystic kidney disease (PKD) is a systemic disorder which adds majority of renal patients to end stage renal disease. Autosomal dominant polycystic kidney disease (ADPKD) is more prevalent and leading cause of dialysis and kidney transplant. Linkage analysis revealed some closely linked loci, two of which are identified as PKD1, PKD2 and an unidentified locus to ADPKD. This study was performed using PCR and automated DNA sequencing in 84 cases and 80 controls to test potential candidature of PKD2 as underlying cause of PKD by in silico and statistical analyses...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29313986/protein-kinase-d-activation-induces-mitochondrial-fragmentation-and-dysfunction-in-cardiomyocytes
#8
Bong Sook Jhun, Jin O-Uchi, Stephanie M Adaniya, Tomas J Mancini, Jessica L Cao, Michelle E King, Amy K Landi, Hanley Ma, Milla Shin, Donqin Yang, Xiaole Xu, Yisang Yoon, Gaurav Choudhary, Richard T Clements, Ulrike Mende, Shey-Shing Sheu
Regulation of mitochondrial morphology is crucial for the maintenance of physiological functions in many cell types including cardiomyocytes. Small and fragmented mitochondria are frequently observed in pathological condition, but it is still unclear which cardiac signalling pathway is responsible for regulating the abnormal mitochondrial morphology in cardiomyocytes. Here we demonstrate that a downstream kinase of Gq -protein coupled receptor (Gq PCR) signalling, protein kinase D (PKD), mediates pathophysiological modifications in mitochondrial morphology and function, which consequently contribute to the activation of apoptotic signalling...
January 5, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29306517/patterns-of-kidney-function-decline-in-autosomal-dominant-polycystic-kidney-disease-a-post-hoc-analysis-from-the-halt-pkd-trials
#9
Godela M Brosnahan, Kaleab Z Abebe, Charity G Moore, Frederic F Rahbari-Oskoui, Kyongtae T Bae, Jared J Grantham, Robert W Schrier, William E Braun, Arlene B Chapman, Michael F Flessner, Peter C Harris, Marie C Hogan, Ronald D Perrone, Dana C Miskulin, Theodore I Steinman, Vicente E Torres
BACKGROUND: Previous clinical studies of autosomal dominant polycystic kidney disease (ADPKD) reported that loss of kidney function usually follows a steep and relentless course. A detailed examination of individual patterns of decline in estimated glomerular filtration rate (eGFR) has not been performed. STUDY DESIGN: Longitudinal post hoc analysis of data collected during the Halt Progression of Polycystic Kidney Disease (HALT-PKD) trials. SETTING & PARTICIPANTS: 494 HALT-PKD Study A participants (younger; preserved eGFR) and 435 Study B participants (older; reduced eGFR) who had more than 3 years of follow-up and 7 or more eGFR assessments...
January 3, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29288557/alu-element-insertion-in-pklr-gene-as-a-novel-cause-of-pyruvate-kinase-deficiency-in-middle-eastern-patients
#10
Harry Lesmana, Lisa Dyer, Xia Li, James Denton, Jenna Griffiths, Satheesh Chonat, Katie G Seu, Matthew M Heeney, Kejian Zhang, Robert J Hopkin, Theodosia A Kalfa
Pyruvate kinase deficiency (PKD) is the most frequent red blood cell enzyme abnormality of the glycolytic pathway and the most common cause of hereditary nonspherocytic hemolytic anemia. Over 250 PKLR-gene mutations have been described, including missense/nonsense, splicing and regulatory mutations, small insertions, small and gross deletions, causing PKD and hemolytic anemia of variable severity. Alu retrotransposons are the most abundant mobile DNA sequences in the human genome, contributing to almost 11% of its mass...
December 30, 2017: Human Mutation
https://www.readbyqxmd.com/read/29285950/prrt2-mutations-in-a-cohort-of-chinese-families-with-paroxysmal-kinesigenic-dyskinesia-and-genotype-phenotype-correlation-reanalysis-in-literatures
#11
Guohua Zhao, Xiaomin Liu, Qiong Zhang, Kang Wang
PURPOSE OF THE STUDY: Though rare, children are susceptible to paroxysmal dyskinesias (PxDs) such as paroxysmal kinesigenic dyskinesia (PKD), and infantile convulsions and choreoathetosis (ICCA, also termed PKD/IC). PKD is characterized by recurrent attacks of involuntary movements mostly starting around puberty, and PKD/IC also presents with clusters of non-febrile seizures at ages between 3 and 12 months in addition to symptoms of PKD. Recent studies showed that the cause of PKD or PKD/IC could be proline-rich transmembrane protein 2 (PRRT2) gene mutations...
December 29, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29276650/paroxysmal-kinesigenic-dyskinesia
#12
Martin Paucar, Helena Malmgren, Per Svenningsson
Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition associated with heterozygous mutations in the proline-rich transmembrane protein 2 (PRRT2) gene. Phenomenology Shown: In this article we illustrate the phenomenology of PKD in a male previously misdiagnosed with Tourette's syndrome. Educational Value: Regardless of the underlying phenotype, PKD is highly responsive to some antiepileptic drugs.
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29270497/autosomal-dominant-polycystic-kidney-patients-may-be-predisposed-to-various-cardiomyopathies
#13
Fouad T Chebib, Marie C Hogan, Ziad M El-Zoghby, Maria V Irazabal, Sarah R Senum, Christina M Heyer, Charles D Madsen, Emilie Cornec-Le Gall, Atta Behfar, Peter C Harris, Vicente E Torres
Introduction: Mutations in PKD1 and PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). Experimental evidence suggests an important role of the polycystins in cardiac development and myocardial function. To determine whether ADPKD may predispose to the development of cardiomyopathy, we have evaluated the coexistence of diagnoses of ADPKD and primary cardiomyopathy in our patients. Methods: Clinical data were retrieved from medical records for patients with a coexisting diagnosis of ADPKD and cardiomyopathies evaluated at the Mayo Clinic (1984-2015)...
September 2017: KI Reports
https://www.readbyqxmd.com/read/29270134/novel-small-molecule-inhibitors-of-protein-kinase-d-suppress-nf-kappab-activation-and-attenuate-the-severity-of-rat-cerulein-pancreatitis
#14
Jingzhen Yuan, Tanya Tan, Meng Geng, Grace Tan, Chintan Chheda, Stephen J Pandol
Nuclear factor-kappa B (NF-κB) activation is a key early signal regulating inflammatory and cell death responses in acute pancreatitis. Our previous in vitro studies with molecular approaches on AR42J cell showed that protein kinase D (PKD/PKD1) activation was required in NF-κB activation induced by cholecystokinin 8 (CCK) or carbachol (CCh) in pancreatic acinar cells. Recently developed small molecule PKD inhibitors, CID755673 and CRT0066101, provide potentially important pharmacological approaches to further investigate the effect of PKD in pancreatitis therapy...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29259300/protein-kinase-d2-a-versatile-player-in-cancer-biology
#15
REVIEW
Ninel Azoitei, Mathias Cobbaut, Alexander Becher, Johan Van Lint, Thomas Seufferlein
Protein kinase D2 (PKD2) is a serine/threonine kinase that belongs to the PKD family of calcium-calmodulin kinases, which comprises three isoforms: PKD1, PKD2, and PKD3. PKD2 is activated by many stimuli including growth factors, phorbol esters, and G-protein-coupled receptor agonists. PKD2 participation to uncontrolled growth, survival, neovascularization, metastasis, and invasion has been documented in various tumor types including pancreatic, colorectal, gastric, hepatic, lung, prostate, and breast cancer, as well as glioma multiforme and leukemia...
December 20, 2017: Oncogene
https://www.readbyqxmd.com/read/29258556/lysophosphatidic-acid-via-lpa-receptor-5-protein-kinase-d-dependent-pathways-induces-a-motile-and-pro-inflammatory-microglial-phenotype
#16
I Plastira, E Bernhart, M Goeritzer, T DeVaney, H Reicher, A Hammer, B Lohberger, A Wintersperger, B Zucol, W F Graier, D Kratky, E Malle, W Sattler
BACKGROUND: Extracellular lysophosphatidic acid (LPA) species transmit signals via six different G protein-coupled receptors (LPAR1-6) and are indispensible for brain development and function of the nervous system. However, under neuroinflammatory conditions or brain damage, LPA levels increase, thereby inducing signaling cascades that counteract brain function. We describe a critical role for 1-oleyl-2-hydroxy-sn-glycero-3-phosphate (termed "LPA" throughout our study) in mediating a motile and pro-inflammatory microglial phenotype via LPAR5 that couples to protein kinase D (PKD)-mediated pathways...
December 19, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29230552/identification-of-clustered-phosphorylation-sites-in-pkd2l1-how-pkd2l1-channel-activation-is-regulated-by-cyclic-adenosine-monophosphate-signaling-pathway
#17
Eunice Yon June Park, Misun Kwak, Kotdaji Ha, Insuk So
Polycystic kidney disease 2-like-1 (PKD2L1), or polycystin-L or TRPP2, formerly TRPP3, is a transient receptor potential (TRP) superfamily member. It is a calcium-permeable non-selective cation channel that regulates intracellular calcium concentration and thereby calcium signaling. PKD2L1 has been reported to take part in hedgehog signaling in renal primary cilia and sour tasting coupling with PKD1L3. In addition to the previous reports, PKD2L1 is recently found to play a crucial role in localization with β2-adrenergic receptor (β2AR) on the neuronal primary cilia...
December 11, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/29224797/kidney-transplant-with-and-without-native-nephrectomy-for-polycystic-kidney-disease-results-of-the-national-inpatient-sample-and-the-rationale-for-a-2-staged-procedure
#18
Raymond A Jean, Mehida Alexandre, Peter S Yoo
BACKGROUND: Polycystic kidney disease (PKD) is one of the most common causes of end-stage renal disease requiring hemodialysis or transplantation. In patients requiring transplant, there are several indications for native nephrectomy, including recurrent cyst infection, bleeding, or to provide room for the graft. There is disagreement about whether it is advisable to perform kidney transplant alone (KT), or to perform kidney transplant with simultaneous native nephrectomy (KTN). We compared postoperative outcomes of KTN and KT in a large national cohort...
December 7, 2017: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/29215110/quercetin-inhibits-renal-cyst-growth-in-vitro-and-via-parenteral-injection-in-a-polycystic-kidney-disease-mouse-model
#19
Yangyang Zhu, Tian Teng, Hu Wang, Hao Guo, Lei Du, Baoxue Yang, Xiaoxing Yin, Ying Sun
Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic disease characterized by massive enlargement of fluid-filled cysts in the kidney. There is an urgent need to develop effective ADPKD therapies. We used an in vitro Madin-Darby canine kidney (MDCK) cyst model and a murine embryonic kidney cyst model to evaluate whether quercetin inhibits cyst development. We then used a polycystic kidney disease (PKD) mouse model to further determine the in vivo effects of quercetin (100 mg per kg body weight twice per day) on PKD mice via subcutaneous injections...
December 7, 2017: Food & Function
https://www.readbyqxmd.com/read/29181500/perinatal-diagnosis-management-and-follow-up-of-cystic-renal-diseases-a-clinical-practice-recommendation-with-systematic-literature-reviews
#20
Charlotte Gimpel, Fred E Avni, Carsten Bergmann, Metin Cetiner, Sandra Habbig, Dieter Haffner, Jens König, Martin Konrad, Max C Liebau, Lars Pape, Georg Rellensmann, Andrea Titieni, Constantin von Kaisenberg, Stefanie Weber, Paul J D Winyard, Franz Schaefer
Importance: Prenatal and neonatal cystic kidney diseases are a group of rare disorders manifesting as single, multiple unilateral, or bilateral cysts or with increased echogenicity of the renal cortex without macroscopic cysts. They may be accompanied by grossly enlarged kidneys, renal oligohydramnios, pulmonary hypoplasia, extrarenal abnormalities, and neonatal kidney failure. The prognosis is extremely variable from trivial to very severe or even uniformly fatal, which poses significant challenges to prenatal counseling and management...
November 27, 2017: JAMA Pediatrics
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