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https://www.readbyqxmd.com/read/29042084/adenylyl-cyclase-5-deficiency-reduces-renal-cyclic-amp-and-cyst-growth-in-an-orthologous-mouse-model-of-polycystic-kidney-disease
#1
Qian Wang, Patricia Cobo-Stark, Vishal Patel, Stefan Somlo, Pyung-Lim Han, Peter Igarashi
Cyclic AMP promotes cyst growth in polycystic kidney disease (PKD) by stimulating cell proliferation and fluid secretion. Previously, we showed that the primary cilium of renal epithelial cells contains a cAMP regulatory complex comprising adenylyl cyclases 5 and 6 (AC5/6), polycystin-2, A-kinase anchoring protein 150, protein kinase A, and phosphodiesterase 4C. In Kif3a mutant cells that lack primary cilia, the formation of this regulatory complex is disrupted and cAMP levels are increased. Inhibition of AC5 reduces cAMP levels in Kif3a mutant cells, suggesting that AC5 may mediate the increase in cAMP in PKD...
October 14, 2017: Kidney International
https://www.readbyqxmd.com/read/29038287/genetic-complexity-of-autosomal-dominant-polycystic-kidney-and-liver-diseases
#2
Emilie Cornec-Le Gall, Vicente E Torres, Peter C Harris
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis, between two groups of inherited disorders, autosomal dominant polycystic kidney diseases (ADPKD), a significant cause of ESRD, and autosomal dominant polycystic liver diseases (ADPLD), which result in significant PLD with minimal PKD. Eight genes have been associated with ADPKD (PKD1 and PKD2), ADPLD (PRKCSH, SEC63, LRP5, ALG8, and SEC61B), or both (GANAB). Although genetics is only infrequently used for diagnosing these diseases and prognosing the associated outcomes, its value is beginning to be appreciated, and the genomics revolution promises more reliable and less expensive molecular diagnostic tools for these diseases...
October 16, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29033332/disruption-of-core-planar-cell-polarity-signaling-regulates-renal-tubule-morphogenesis-but-is-not-cystogenic
#3
Koshi Kunimoto, Roy D Bayly, Eszter K Vladar, Tyson Vonderfecht, Anna-Rachel Gallagher, Jeffrey D Axelrod
Oriented cell division (OCD) and convergent extension (CE) shape developing renal tubules, and their disruption has been associated with polycystic kidney disease (PKD) genes, the majority of which encode proteins that localize to primary cilia. Core planar cell polarity (PCP) signaling controls OCD and CE in other contexts, leading to the hypothesis that disruption of PCP signaling interferes with CE and/or OCD to produce PKD. Nonetheless, the contribution of PCP to tubulogenesis and cystogenesis is uncertain, and two major questions remain unanswered...
October 11, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28973148/a-constitutive-bcl2-down-regulation-aggravates-the-phenotype-of-pkd1-mutant-induced-polycystic-kidney-disease
#4
Laurence Duplomb, Nathalie Droin, Olivier Bouchot, Christel Robinet Thauvin, Ange-Line Bruel, Julien Thevenon, Patrick Callier, Guillaume Meurice, Noémie Pata-Merci, Romaric Loffroy, David Vandroux, Romain Da Costa, Virginie Carmignac, Eric Solary, Laurence Faivre
The main identified function of BCL2 protein is to prevent cell death by apoptosis. Mice knock-out for Bcl2 demonstrate growth retardation, severe polycystic kidney disease (PKD), gray hair and lymphopenia, and die prematurely after birth. Here, we report a 40-year-old male referred to for abdominal and thoracic aortic dissection with associated aortic root aneurysm, PKD, lymphocytopenia with a history of T cell lymphoblastic lymphoma, white hair since the age of 20, and learning difficulties. PKD, which was also detected in the father and sister, was related to an inherited PKD1 mutation...
September 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28967916/organoid-cystogenesis-reveals-a-critical-role-of-microenvironment-in-human-polycystic-kidney%C3%A2-disease
#5
Nelly M Cruz, Xuewen Song, Stefan M Czerniecki, Ramila E Gulieva, Angela J Churchill, Yong Kyun Kim, Kosuke Winston, Linh M Tran, Marco A Diaz, Hongxia Fu, Laura S Finn, York Pei, Jonathan Himmelfarb, Benjamin S Freedman
Polycystic kidney disease (PKD) is a life-threatening disorder, commonly caused by defects in polycystin-1 (PC1) or polycystin-2 (PC2), in which tubular epithelia form fluid-filled cysts. A major barrier to understanding PKD is the absence of human cellular models that accurately and efficiently recapitulate cystogenesis. Previously, we have generated a genetic model of PKD using human pluripotent stem cells and derived kidney organoids. Here we show that systematic substitution of physical components can dramatically increase or decrease cyst formation, unveiling a critical role for microenvironment in PKD...
October 2, 2017: Nature Materials
https://www.readbyqxmd.com/read/28965236/severity-of-diverticulitis-in-patients-with-polycystic-kidney-disease-without-transplantation
#6
Maile E Parker, Kellie L Mathis, Scott R Kelley
BACKGROUND: Patients with polycystic kidney disease (PKD) who have had a kidney transplant have an increased risk of diverticular disease and complicated diverticulitis. Literature is limited regarding the severity of diverticulitis in patients with PKD who have not had a transplant. We aim to assess whether patients with PKD, with and without renal transplant, have a similar course of diverticulitis. METHODS: A retrospective review of all adult PKD patients at our institution diagnosed with diverticulitis between 2000 and 2016 was conducted...
September 30, 2017: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/28952822/recent-advances-in-the-molecular-diagnosis-of-polycystic-kidney-disease
#7
Carsten Bergmann
Polycystic kidney disease (PKD) is clinically and genetically heterogeneous and constitutes the most common heritable kidney disease. The majority of patients are affected by the autosomal dominant form (ADPKD) which generally is an adult-onset multisystem disorder. By contrast, the rarer recessive form ARPKD usually already manifests perinatally or in childhood. In some patients ADPKD and ARPKD can phenotypically overlap with early manifestation in ADPKD and only late onset in ARPKD. Progressive fibrocystic renal changes are often accompanied by severe hepatobiliary changes or other extrarenal abnormalities...
September 27, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28946913/the-impact-of-tetracapsuloides-bryosalmonae%C3%A2-and%C3%A2-myxobolus-cerebralis-co-infections-on-pathology-in-rainbow-trout
#8
Mohamed H Kotob, Bartolomeo Gorgoglione, Gokhlesh Kumar, Mahmoud Abdelzaher, Mona Saleh, Mansour El-Matbouli
BACKGROUND: Myxozoan parasites pose emerging health issues for wild and farmed salmonid fish. Rainbow trout (Oncorhynchus mykiss) is a particularly susceptible species to Tetracapsuloides bryosalmonae (Malacosporea), the etiological agent of Proliferative Kidney Disease (PKD), and to Myxobolus cerebralis (Myxosporea), the etiological agent of Whirling Disease (WD). The objective of this study was to investigate the impact of myxozoan co-infections on the pathogenesis of PKD and WD in the rainbow trout...
September 25, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28941485/autosomal-dominant-pkd-in-patients-with-pkd2-mutations-a%C3%A2-benign-disorder
#9
EDITORIAL
Ahsan Alam, Ronald D Perrone
No abstract text is available yet for this article.
October 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28937383/multicentric-papillary-and-chromophobe-renal-cell-carcinomas-in-a-patient-with-autosomal-dominant-polycystic-kidney-disease-report-of-a-rare-case
#10
Nibedita Sahoo, Susama Patra, Swagatika Senapati, Tushar S Mishra
The causal relationship of autosomal dominant polycystic kidney disease (ADPKD) with the development of renal cell carcinoma (RCC) is still not known. We describe a case of bilateral PKD complicated with a large enhancing mass and multiple small nodules in the left kidney. The histopathological study of the nephrectomy specimen revealed the synchronous occurrence of eosinophilic variant of chromophobe RCC (EVCRCC) and multicentric papillary RCC (PRCC) in a background of ADPKD. To the best of our knowledge, this case is the first to describe the collision tumor of EVCRCC and multicentric PRCC in ADPKD...
July 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28927462/generation-of-special-autosomal-dominant-polycystic-kidney-disease-ipscs-with-the-capability-of-functional-kidney-like-cell-differentiation
#11
Jiahui Huang, Shumin Zhou, Xin Niu, Bin Hu, Qing Li, Feng Zhang, Xue Zhang, Xiujuan Cai, Yuanlei Lou, Fen Liu, Chenming Xu, Yang Wang
BACKGROUND: Human induced pluripotent stem cells (iPSCs) have been verified as a powerful cell model for the study of pathogenesis in hereditary disease. Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations of PKD or non-PKD genes. The pathogenesis of ADPKD remains unexplored because of the lack of a true human cell model. METHODS: Six ADPKD patients and four healthy individuals were recruited as donors of somatic cells from a Chinese ADPKD family without mutations of the PKD genes but carrying SAMSN1 gene deletion...
September 19, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28914447/are-brown-trout-salmo-trutta-fario-and-rainbow-trout-oncorhynchus-mykiss-two-of-a-kind-a-comparative-study-of-salmonids-to-temperature-influenced-tetracapsuloides-bryosalmonae-infection
#12
C Bailey, H Schmidt-Posthaus, H Segner, T Wahli, N Strepparava
Proliferative kidney disease (PKD) of salmonids caused by Tetracapsuloides bryosalmonae causes high mortalities of wild brown trout (Salmo trutta fario) and farmed rainbow trout (Oncorhynchus mykiss) at elevated water temperatures. Here the aim was to compare the temperature-dependent modulation of T. bryosalmonae in the two salmonid host species, which display different temperature optima. We used a novel experimental set-up in which we exposed brown trout and rainbow trout to an identical quantified low concentration of T...
September 15, 2017: Journal of Fish Diseases
https://www.readbyqxmd.com/read/28900791/telomere-length-and-antioxidant-defense-associate-with-parasite-induced-retarded-growth-in-wild-brown-trout
#13
Janina Stauffer, Matthieu Bruneaux, Bineet Panda, Marko Visse, Anti Vasemägi, Petteri Ilmonen
Early growth conditions can have profound impacts on individuals' development, growth and physiology, with subsequent long-term consequences for individuals' fitness and life expectancy. Telomere length (TL) has been suggested to indicate both individual fitness and life expectancy in wide range of species, as the telomere attrition rate at early age can be accelerated due to exposure to various stressors, including parasites and inflammatory diseases, which increase production of reactive oxygen species (ROS) and influence antioxidant (AO) levels...
September 12, 2017: Oecologia
https://www.readbyqxmd.com/read/28890776/discovery-of-a-potent-protein-kinase-d-inhibitor-insights-in-the-binding-mode-of-pyrazolo-3-4-d-pyrimidine-analogues
#14
Klaas Verschueren, Mathias Cobbaut, Joachim Demaerel, Lina Saadah, Arnout R D Voet, Johan Van Lint, Wim M De Borggraeve
In this study, we set out to rationally optimize PKD inhibitors based on the pyrazolo[3,4-d]pyrimidine scaffold. The lead compound for this study was 1-NM-PP1, which was previously found by us and others to inhibit PKD. In our screening we identified one compound (3-IN-PP1) displaying a 10-fold increase in potency over 1-NM-PP1, opening new possibilities for specific protein kinase inhibitors for kinases that show sensitivity towards pyrazolo[3,4-d]pyrimidine derived compounds. Interestingly the observed SAR was not in complete agreement with the commonly observed binding mode where the pyrazolo[3,4-d]pyrimidine compounds are bound in a similar fashion as PKD's natural ligand ATP...
March 1, 2017: MedChemComm
https://www.readbyqxmd.com/read/28877884/aberrant-smad3-phosphoisoforms-in-cyst-lining-epithelial-cells-in-the-cpk-mouse-a-model-of-autosomal-recessive-polycystic-kidney-disease
#15
Taketsugu Hama, Koichi Nakanishi, Masashi Sato, Hironobu Mukaiyama, Hiroko Togawa, Yuko Shima, Masayasu Miyajima, Kandai Nozu, Shizuko Nagao, Hisahide Takahashi, Mayumi Sako, Kazumoto Iijima, Norishige Yoshikawa, Hiroyuki Suzuki
Cystic epithelia acquire mesenchymal-like features in polycystic kidney disease (PKD). In this phenotypic alteration, it is well known that transforming growth factor (TGF)-β/Smad3 signaling is involved, however, there is emerging new data on Smad3 phosphoisoforms: Smad3 phosphorylated at linker regions (pSmad3L) and COOH terminal regions (pSmad3C) and both (pSmad3L/C). pSmad3L/C has a pathological role in colorectal cancer. Mesenchymal phenotype-specific cell responses in TGF-β/Smad3 pathway are implicated in carcinomas...
September 6, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28877825/effectiveness-of-peritoneal-dialysis-in-treating-adult-end-stage-renal-disease-patients-with-polycystic-kidney-disease
#16
Ying Ma, Hai-Yun Wang, Zi-Juan Zhou, Yang Li, Wei Yang, Bing-Yan Liu, Jing-Hua Xia, Xue-Mei Li, Li-Meng Chen
Objective To observe the clinical characteristics,dialysis modalities,and outcomes of end stage renal disease(ESRD)patients with polycystic kidney disease(PKD)and to evaluate the feasibility of peritoneal dialysis in these population. Methods The clinical data of ESRD patient whose primary diagnosis was PKD in Peking Union Medical College Hospital were retrospectively collected from January 1993 to December 2015.PKD patients were divided into two groups according to dialysis modality,namely peritoneal dialysis group(PKD-PD)group and hemodialysis(PKD-HD)group...
August 20, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/28870863/use-of-targeted-sequence-capture-and-high-throughput-sequencing-identifies-a-novel-pkd1-mutation-involved-in-adult-polycystic-kidney-disease
#17
Yan-Kun Sha, Yan-Wei Sha, Li-Bin Mei, Xian-Jing Huang, Xu Wang, Shao-Bin Lin, Lin Li, Ping Li
Polycystic kidney disease (PKD) is a common inherited disease that is characterized by a progressive development of renal cysts. Approximately 85% of PKD cases are due to mutations in the polycystin 1 (PKD1) gene. Here, we report a pedigree containing nine patients with autosomal dominant PKD (ADPKD). Using targeted exome sequencing of PKD1 and PKD2 genes, we identified a novel heterozygous frameshift mutation c.3976_3977insCT (p.F1326Sfs*21) in the PKD1 gene that segregated between affected and unaffected family members...
November 15, 2017: Gene
https://www.readbyqxmd.com/read/28870817/-prrt2-mutation-and-infantile-convulsions
#18
M Mathot, D Lederer, S Gerard, E Gueulette, M Deprez
New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial hemiplegic migraine (FHM type 4), paroxysmal benign torticollis of childhood, and episodic ataxia. We describe the case of an infant, carrying a mutation of the PRRT2 gene, with a classical presentation...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28860775/a-case-of-paroxysmal-kinesigenic-dyskinesia-which-exhibited-the-phenotype-of-anxiety-disorder
#19
Yasuto Kunii, Nozomu Matsuda, Hirooki Yabe
BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is a rare heritable neurologic disorder characterized by attacks of involuntary movement induced by sudden voluntary movements. No previous reports have described cases showing comorbidity with psychiatric disease or symptoms. In this case, we showed a patient with PKD who exhibited several manifestations of anxiety disorder. CASE: A 35-year-old Japanese man with PKD had been maintained on carbamazepine since he was 16 years of age without any attacks...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28855402/polycystic-kidney-disease-is-significantly-associated-with-dementia-risk
#20
Tung-Min Yu, Ya-Wen Chuang, Kuo-Ting Sun, Mei-Ching Yu, Shiang-Cheng Kung, Brian K Lee, Shih-Ting Huang, Cheng-Hsu Chen, Cheng-Li Lin, Chia-Hung Kao
OBJECTIVE: Data on the risk of neurodegenerative diseases, including Alzheimer disease (AD) and Parkinson disease (PD), in patients with polycystic kidney disease (PKD) are lacking. METHODS: A total of 4,229 patients who were aged ≥20 years and had received a diagnosis of PKD were included in the PKD cohort. For each PKD case identified, 1 participant aged ≥20 years without a history of PKD, dementia, or PD was selected from the comparison cohort. For each patient with PKD, the corresponding controls were selected 1:1 on the basis of the nearest propensity score calculated using logistic regression...
October 3, 2017: Neurology
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