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https://www.readbyqxmd.com/read/29774463/early-cardiovascular-manifestations-in-children-and-adolescents-with-autosomal-dominant-polycystic-kidney-disease-a-single-center-study
#1
Vasiliki Karava, Cherine Benzouid, Julien Hogan, Claire Dossier, André Pierre Denjean, Georges Deschênes
BACKGROUND: This study aims to describe the cardiovascular manifestations in children with autosomal dominant polycystic kidney disease (ADPKD) and detect their relation with kidney disease and type of gene mutation. METHODS: Twenty-one patients (7 to 19 years old) were included. Cardiovascular evaluation involved blood pressure (BP), indexed left ventricular mass (LVMI), pulse wave velocity (PWV), and carotid intima media thickness (cIMT) measurement. Patients were classified according to percentile reference values of these parameters in healthy children...
May 17, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29767557/polycystin-1-dysfunction-impairs-electrolyte-and-water-handling-in-a-renal-pre-cystic-mouse-model-for-adpkd
#2
Eric H J Verschuren, Sami G Mohammed, Wouter N Leonhard, Caro Overmars-Bos, Kimberly A M Veraar, Joost G J Hoenderop, René J M Bindels, Dorien J M Peters, Francisco J Arjona
The PKD1 gene encodes polycystin-1 (PC1), a mechanosensor triggering intracellular responses upon urinary flow sensing in kidney tubular cells. Mutations in PKD1 lead to autosomal dominant polycystic kidney disease (ADPKD). The involvement of PC1 in renal electrolyte handling remains unknown since renal electrolyte physiology in ADPKD patients has only been characterized in cystic ADPKD. We thus studied the renal electrolyte handling in inducible kidney-specific Pkd1 knockout (iKsp-Pkd1-/-) mice manifesting a pre-cystic phenotype...
May 16, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29724910/retromer-associates-with-the-cytoplasmic-amino-terminus-of-polycystin-2
#3
Frances C Tilley, Matthew Gallon, Chong Luo, Chris M Danson, Jing Zhou, Peter J Cullen
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic human disease, with around 12.5 million people affected worldwide. ADPKD results from mutations in either PKD1 or PKD2 , which encode the atypical G-protein coupled receptor polycystin-1 (PC1) and the transient receptor potential channel polycystin-2 (PC2) respectively. Although altered intracellular trafficking of PC1 and PC2 appear as an underlying feature of ADPKD, the mechanisms which govern vesicular transport of the polycystins through the biosynthetic and endosomal membrane networks remain to be fully elucidated...
May 3, 2018: Journal of Cell Science
https://www.readbyqxmd.com/read/29717938/comparison-of-folate-conjugated-rapamycin-versus-unconjugated-rapamycin-in-an-orthologous-mouse-model-of-polycystic-kidney-disease
#4
Kevin R Kipp, Samantha L Kruger, Margaret F Schimmel, Nikki Parker, Jonathan M Shillingford, Christopher P Leamon, Thomas Weimbs
Autosomal-dominant polycystic kidney disease (ADPKD) is a very common genetic disease leading to renal failure. Numerous aberrantly regulated signaling pathways have been identified as promising molecular drug targets for ADPKD therapy. In rodent models, many small-molecule drugs against such targets have proven effective in reducing renal cyst growth. For example, mTOR inhibition with rapamycin greatly ameliorates renal cystic disease in several rodent models. However, clinical trials with mTOR inhibitors were disappointing largely due to the intolerable extra-renal side effects during long-term treatment with these drugs...
May 2, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29716997/long-noncoding-rna-hoxb3os-is-dysregulated-in-autosomal-dominant-polycystic-kidney-disease-and-regulates-mtor-signaling
#5
Karam Aboudehen, Shayan Farahani, Mohammed Kanchwala, Siu Chiu Chan, Svetlana Avdulov, Alan Mickelson, Dayeon Lee, Micah D Gearhart, Vishal Patel, Chao Xing, Peter Igarashi
Autosomal dominant polycystic kidney disease (ADPKD) is a debilitating disease that is characterized by the accumulation of numerous fluid-filled cysts in the kidney. ADPKD is primarily caused by mutations in two genes, PKD1 and PKD2. Long noncoding RNAs (lncRNA) - defined by a length >200 nucleotides and absence of a long open reading frame - have recently emerged as epigenetic regulators of development and disease; however, their involvement in PKD has not been explored previously. Here, we performed deep RNA sequencing to identify lncRNAs that are dysregulated in two orthologous mouse models of ADPKD (kidney-specific Pkd1 and Pkd2 mutant mice)...
May 1, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29695241/novel-risk-genes-identified-in-a-genome-wide-association-study-for-coronary-artery-disease-in-patients-with-type-1-diabetes
#6
Romain Charmet, Seamus Duffy, Sareh Keshavarzi, Beata Gyorgy, Michel Marre, Peter Rossing, Amy Jayne McKnight, Alexander P Maxwell, Tarun Veer Singh Ahluwalia, Andrew D Paterson, David-Alexandre Trégouët, Samy Hadjadj
BACKGROUND: Patients with type 1 diabetes are more at risk of coronary artery disease than the general population. Although evidence points to a genetic risk there have been no study investigating genetic risk factors of coronary artery disease specific to individuals with type 1 diabetes. To identify low frequency and common genetic variations associated with coronary artery disease in populations of individuals with type 1 diabetes. METHODS: A two-stage genome wide association study was conducted...
April 25, 2018: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/29693448/three-dimensional-in-vitro-models-answer-the-right-questions-in-adpkd-cystogenesis
#7
Eryn E Dixon, Owen M Woodward
Novel technologies, new understanding of the basement membrane composition, and better comprehension of the embryonic development of the mammalian kidney have led to explosive growth in the use of three dimensional (3D) in vitro models to study a range of human disease pathologies(6, 35). The development of these effective model systems represents a new tool to study the progressive cystogenesis of autosomal dominant polycystic kidney disease (ADPKD). ADPKD is a prevalent and complex monogenetic disease, characterized by the pathological formation of fluid fill cysts in renal tissue(17, 40)...
April 25, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29652208/age-based-ultrasonographic-criteria-for-diagnosis-of-autosomal-dominant-polycystic-kidney-disease-in-persian-cats
#8
Juliana M Guerra, Mariana F Freitas, Alexandre Gt Daniel, Arine Pellegrino, Natália C Cardoso, Isac de Castro, Luiz F Onuchic, Bruno Cogliati
Objectives The aim of this study was to establish ultrasound criteria for the diagnosis of autosomal dominant polycystic kidney disease (ADPKD) in Persian cats. Methods Eighty-two Persian cats were assessed using renal ultrasound and genotyped for the C→A transversion in exon 29 of PKD1. The animals were also submitted to hematological characterization, serum biochemistry analyses and urinalysis. Results Age, sex and neutering status did not differ between ADPKD (n = 12) and non-ADPKD (n = 70) cats. After integrated molecular genetics/ultrasonographic analysis, the presence of at least one renal cyst was sufficient to establish a diagnosis of ADPKD in animals up to 15 months of age...
April 1, 2018: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/29650765/prospective-cardiovascular-genetics-evaluation-in-spontaneous-coronary-artery-dissection
#9
M Ihsan Kaadan, Carolyn MacDonald, Francesca Ponzini, Jessica Duran, Kelsey Newell, Linda Pitler, Angela Lin, Ido Weinberg, Malissa J Wood, Mark E Lindsay
BACKGROUND: Previous studies describing genetics evaluation in spontaneous coronary artery dissection (SCAD) have been retrospective in nature or presented as single case reports. As part of a dedicated clinical program, we evaluated patients in cardiovascular genetics clinic to determine the role of genetically triggered vascular disease and genetic testing in SCAD. METHODS AND RESULTS: Patient data were entered prospectively into the Massachusetts General Hospital SCAD registry database from July 2013 to September 2017...
April 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29616087/identification-of-potential-key-genes-and-high-frequency-mutant-genes-in-prostate-cancer-by-using-rna-seq-data
#10
Ze Zhang, He Wu, Hong Zhou, Yunhe Gu, Yufeng Bai, Shiliang Yu, Ruihua An, Jiping Qi
The aim of the present study was to identify potential key genes and single nucleotide variations (SNVs) in prostate cancer. RNA sequencing (RNA-seq) data, GSE22260, were downloaded from the Gene Expression Omnibus database, including 4 prostate cancer samples and 4 normal tissues samples. RNA-Seq reads were processed using Tophat and differentially-expressed genes (DEGs) were identified using the Cufflinks package. Gene Ontology enrichment analysis of DEGs was performed. Subsequently, Seqpos was used to identify the potential upstream regulatory elements of DEGs...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29614089/hippocampal-protein-kinase-d1-is-necessary-for-dhpg-induced-learning-and-memory-impairments-in-rats
#11
Wei Wang, Florian Duclot, Bradley R Groveman, Nicole Carrier, Haifa Qiao, Xiao-Qian Fang, Hui Wang, Wenkuan Xin, Xing-Hong Jiang, Michael W Salter, Xin-Sheng Ding, Mohamed Kabbaj, Xian-Min Yu
BACKGROUND: Understanding molecular mechanisms underlying the induction of learning and memory impairments remains a challenge. Recent investigations have shown that the activation of group I mGluRs (mGluR1 and mGluR5) in cultured hippocampal neurons by application of (S)-3,5-Dihydroxyphenylglycine (DHPG) causes the regulated internalization of N-methyl-D-aspartate receptors (NMDARs), which subsequently activates protein kinase D1 (PKD1). Through phosphorylating the C-terminals of the NMDAR GluN2 subunits, PKD1 down-regulates the activity of remaining (non-internalized) surface NMDARs...
2018: PloS One
https://www.readbyqxmd.com/read/29606500/preimplantation-genetic-diagnosis-counseling-in-autosomal-dominant-polycystic-kidney-disease
#12
Erin L Murphy, Madeline L Droher, Miriam S DiMaio, Neera K Dahl
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary forms of chronic kidney disease. Mutations within PKD1 or PKD2 lead to innumerable fluid-filled cysts in the kidneys and in some instances, end-stage renal disease (ESRD). Affected individuals have a 50% chance of passing the mutation to each of their offspring. Assisted reproductive technology using preimplantation genetic diagnosis (PGD) allows these individuals to reduce this risk to 1% to 2%. We assess the disease burden of 8 individuals with ADPKD who have undergone genetic testing in preparation for PGD...
March 30, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29600752/recent-advances-of-mtor-inhibitors-use-in-autosomal-dominant-polycystic-kidney-disease-is-the-road-still-open
#13
Pei Kou, Shuang Wei, Fei Xiong
Autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic kidney disease, is caused by mutations in the PKD1, PKD2 or, in a very limited number of families, GANAB genes. Although cellular and molecular mechanisms of this disease have been understood in the past 20 years, specific therapy approaches remain very little. Both experimental and clinical studies show that the mammalian or mechanistic target of rapamycin (mTOR) pathway plays an important role during cyst formation and enlargement in ADPKD...
March 29, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29590654/identification-of-three-novel-frameshift-mutations-in-the-pkd1-gene-in-iranian-families-with-autosomal-dominant-polycystic-kidney-disease-using-efficient-targeted-next-generation-sequencing
#14
Fariba Ranjzad, Nasser Aghdami, Ahmad Tara, Marzieh Mohseni, Reza Moghadasali, Abbas Basiri
BACKGROUND/AIMS: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited cystic kidney diseases caused by mutations in two large multi-exon genes, PKD1 and PKD2. High allelic heterogeneity and duplication of PKD1 exons 1-32 as six pseudo genes on chromosome 16 complicate molecular analysis of this disease. METHODS: We applied targeted next-generation sequencing (NGS) in 9 non-consanguineous unrelated Iranian families with ADPKD to identify the genes hosting disease-causing mutations...
March 22, 2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29563577/inhibition-of-hedgehog-signaling-suppresses-proliferation-and-microcyst-formation-of-human-autosomal-dominant-polycystic-kidney-disease-cells
#15
Luciane M Silva, Damon T Jacobs, Bailey A Allard, Timothy A Fields, Madhulika Sharma, Darren P Wallace, Pamela V Tran
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by mutation of PKD1 or PKD2, which encode polycystin 1 and 2, respectively. The polycystins localize to primary cilia and the functional loss of the polycystin complex leads to the formation and progressive growth of fluid-filled cysts in the kidney. The pathogenesis of ADPKD is complex and molecular mechanisms connecting ciliary dysfunction to renal cystogenesis are unclear. Primary cilia mediate Hedgehog signaling, which modulates cell proliferation and differentiation in a tissue-dependent manner...
March 21, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29550500/distinct-signalling-properties-of-insulin-receptor-substrate-irs-1-and-irs-2-in-mediating-insulin-igf-1-action
#16
Atefeh Rabiee, Marcus Krüger, Jacob Ardenkjær-Larsen, C Ronald Kahn, Brice Emanuelli
Insulin/IGF-1 action is driven by a complex and highly integrated signalling network. Loss-of-function studies indicate that the major insulin/IGF-1 receptor substrate (IRS) proteins, IRS-1 and IRS-2, mediate different biological functions in vitro and in vivo, suggesting specific signalling properties despite their high degree of homology. To identify mechanisms contributing to the differential signalling properties of IRS-1 and IRS-2 in the mediation of insulin/IGF-1 action, we performed comprehensive mass spectrometry (MS)-based phosphoproteomic profiling of brown preadipocytes from wild type, IRS-1-/- and IRS-2-/- mice in the basal and IGF-1-stimulated states...
July 2018: Cellular Signalling
https://www.readbyqxmd.com/read/29530879/polycystin-1-loss-of-function-is-directly-linked-to-an-imbalance-in-g-protein-signaling-in-the-kidney
#17
Bo Zhang, Uyen Tran, Oliver Wessely
The development of the kidney relies on the establishment and maintenance of a precise tubular diameter of its functional units, the nephrons. This process is disrupted in polycystic kidney disease (PKD), resulting in dilations of the nephron and renal cyst formation. In the course of exploring G-protein-coupled signaling in the Xenopus pronephric kidney, we discovered that loss of the G-protein α subunit, Gnas, results in a PKD phenotype. Polycystin 1, one of the genes mutated in human PKD, encodes a protein resembling a G-protein-coupled receptor...
March 22, 2018: Development
https://www.readbyqxmd.com/read/29529603/novel-mutations-in-the-pkd1-and-pkd2-genes-of-chinese-patients-with-autosomal-dominant-polycystic-kidney-disease
#18
Dechao Xu, Yiyi Ma, Xiangchen Gu, Rongrong Bian, Yunhui Lu, Xiaohong Xing, Changlin Mei
BACKGROUND/AIMS: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder with mutations in PKD1 or PKD2. This study aimed to identify novel PKD1 and PKD2 mutations in Chinese patients with ADPKD. METHODS: Mutational analyses of both PKD genes were performed in 120 Chinese families with inherited ADPKD using long-range PCR and targeted next-generation sequencing approaches. Sanger sequencing was performed to check the positive mutations, while multiplex ligation-dependent probe amplification was adopted to examine those without mutations for the presence of large deletions...
March 6, 2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29524884/steviol-slows-renal-cyst-growth-by-reducing-aqp2-expression-and-promoting-aqp2-degradation
#19
Rattikarn Noitem, Chaowalit Yuajit, Sunhapas Soodvilai, Chatchai Muanprasat, Varanuj Chatsudthipong
Overexpression of aquaporin 2 (AQP2) was observed and suggested to be involved in fluid secretion leading to cyst enlargement in polycystic kidney disease (PKD). The cyst expansion deteriorates the renal function and, therefore, therapies targeting cyst enlargement are of clinical interest. Of note, inhibition of vasopressin function using vasopressin 2 receptor (V2R) antagonist which decreased cAMP production along with AQP2 production and function can slow cyst growth in ADPKD. This finding supports the role of AQP2 in cyst enlargement...
May 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29520754/kidney-enlargement-and-multiple-liver-cyst-formation-implicate-mutations-in-pkd1-2-in-adult-sporadic-polycystic-kidney-disease
#20
T Fujimaru, T Mori, A Sekine, S Mandai, M Chiga, H Kikuchi, F Ando, Y Mori, N Nomura, S Iimori, S Naito, T Okado, T Rai, J Hoshino, Y Ubara, S Uchida, E Sohara
Distinguishing autosomal-dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture-based next-generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD...
March 9, 2018: Clinical Genetics
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