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https://www.readbyqxmd.com/read/28199941/effect-directed-analysis-reveals-inhibition-of-zebrafish-uptake-transporter-oatp1d1-by-caulerpenyne-a-major-secondary-metabolite-from-the-invasive-marine-alga-caulerpa-taxifolia
#1
P Marić, M Ahel, I Senta, S Terzić, I Mikac, A Žuljević, T Smital
Caulerpa taxifolia is a marine alga of tropical and subtropical distribution and a well-known invasive species in several temperate regions. Its invasiveness mainly stems from the production of secondary metabolites, some of which are toxic or repellent substances. In this study we investigated the possible inhibitory effects of C. taxifolia secondary metabolites on the activity of two zebrafish (Danio rerio) uptake transporters that transport organic anions (Oatp1d1) and cations (Oct1). Both transporters were transiently transfected and overexpressed in human embryonic kidney HEK293T cells...
February 2, 2017: Chemosphere
https://www.readbyqxmd.com/read/28198397/cystinosis-ctns-zebrafish-mutant-shows-pronephric-glomerular-and-tubular-dysfunction
#2
Mohamed A Elmonem, Ramzi Khalil, Ladan Khodaparast, Laleh Khodaparast, Fanny O Arcolino, Joseph Morgan, Anna Pastore, Przemko Tylzanowski, Annelii Ny, Martin Lowe, Peter A de Witte, Hans J Baelde, Lambertus P van den Heuvel, Elena Levtchenko
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystinosis. Kidneys are initially affected with generalized proximal tubular dysfunction (renal Fanconi syndrome), then the disease rapidly affects glomeruli and progresses towards end stage renal failure and multiple organ dysfunction...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28190459/mutations-in-inpp5k-cause-a-form-of-congenital-muscular-dystrophy-overlapping-marinesco-sj%C3%A3-gren-syndrome-and-dystroglycanopathy
#3
Daniel P S Osborn, Heather L Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J Munn, Khaloob Mushref, Edmund S Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A Sellars, R Sean Hill, Jennifer N Partlow, Rebecca K Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E Swan, Thomas Voit, Francesco J Conti, Yalda Jamshidi, M Chiara Manzini
Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here we report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan glycosylation, short stature, intellectual disability, and cataracts, overlapping both the dystroglycanopathies and Marinesco-Sjögren syndrome...
February 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28179256/zebrafish-mesonephric-renin-cells-are-functionally-conserved-and-comprise-of-two-distinct-morphological-populations
#4
Sebastien A Rider, Helen C Christian, Linda J Mullins, Amelia R Howarth, Calum A MacRae, John J Mullins
Zebrafish provide an excellent model in which to assess the role of the renin-angiotensin system in renal development, injury and repair. In contrast to mammals, zebrafish kidney organogenesis terminates with the mesonephros. Despite this, the basic functional structure of the nephron is conserved across vertebrates. The relevance of teleosts for studies relating to the regulation of the renin-angiotensin system was established by assessing the phenotype and functional regulation of renin-expressing cells in zebrafish...
February 8, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28157230/conserved-gene-regulation-during-acute-inflammation-between-zebrafish-and-mammals
#5
G Forn-Cuní, M Varela, P Pereiro, B Novoa, A Figueras
Zebrafish (Danio rerio), largely used as a model for studying developmental processes, has also emerged as a valuable system for modelling human inflammatory diseases. However, in a context where even mice have been questioned as a valid model for these analysis, a systematic study evaluating the reproducibility of human and mammalian inflammatory diseases in zebrafish is still lacking. In this report, we characterize the transcriptomic regulation to lipopolysaccharide in adult zebrafish kidney, liver, and muscle tissues using microarrays and demonstrate how the zebrafish genomic responses can effectively reproduce the mammalian inflammatory process induced by acute endotoxin stress...
February 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28148530/usp40-gene-knockdown-disrupts-glomerular-permeability-in-zebrafish
#6
Hisashi Takagi, Yukino Nishibori, Kan Katayama, Tomohisa Katada, Shohei Takahashi, Zentaro Kiuchi, Shin-Ichiro Takahashi, Hiroyasu Kamei, Hayato Kawakami, Yoshihiro Akimoto, Akihiko Kudo, Katsuhiko Asanuma, Hiromu Takematsu, Kunimasa Yan
Unbiased transcriptome profiling and functional genomics approaches have identified ubiquitin specific protease 40 (USP40) as a highly specific glomerular transcript. This gene product remains uncharacterized, and its biological function is completely unknown. Here, we showed that mouse and rat glomeruli exhibit specific expression of the USP40 protein, which migrated at 150 kDa and was exclusively localized in the podocyte cytoplasm of the adult kidney. Double-labeling immunofluorescence staining and confocal microscopy analysis of fetal and neonate kidney samples revealed that USP40 was also expressed in the vasculature, including in glomerular endothelial cells at the premature stage...
February 1, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28129952/biomarker-responses-in-zebrafish-danio-rerio-larvae-exposed-to-pristine-low-density-polyethylene-fragments
#7
Ali Karami, David B Groman, Scott P Wilson, Patimah Ismail, Vasantha K Neela
There are serious concerns over the adverse impacts of microplastics (MPs) on living organisms. The main objective of this study was to test the effects of MPs on the total length, weight, condition factor (CF), transcriptional level of antioxidant, anti and pro-apoptotic, and neurotransmitter genes, and the histopathology of the gill, liver, brain, kidney, and intestine in the larvae of zebrafish (Danio rerio). Fish were exposed to one of three levels of pristine low-density polyethylene (LDPE) fragments (5, 50, or 500 μg/L) for 10 or 20 days...
January 24, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28121514/genetic-drivers-of-kidney-defects-in-the-digeorge-syndrome
#8
Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Edgar A Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J Steers, David A Fasel, Katarina Vukojevic, Rong Deng, Silvia E Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S Makar, Monica Bodria, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald S Petrey, Barry Honig, Vladimir J Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Adela Arapovic, Mirna Saraga-Babic, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M McDonald-McGinn, Terrence B Crowley, Elaine H Zackai, Dorota Drozdz, Monika Miklaszewska, Marcin Tkaczyk, Przemyslaw Sikora, Maria Szczepanska, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, John M Darlow, Prem Puri, David Barton, Emilio Casolari, Susan L Furth, Bradley A Warady, Zoran Gucev, Hakon Hakonarson, Hana Flogelova, Velibor Tasic, Anna Latos-Bielenska, Anna Materna-Kiryluk, Landino Allegri, Craig S Wong, Iain A Drummond, Vivette D'Agati, Akira Imamoto, Jonathan M Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P Lifton, Bernice E Morrow, Cecile Jeanpierre, Virginia E Papaioannou, Gian Marco Ghiggeri, Ali G Gharavi, Nicholas Katsanis, Simone Sanna-Cherchi
Background The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown. Methods We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies...
25, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28118669/the-ciliopathy-gene-ahi1-is-required-for-zebrafish-cone-photoreceptor-outer-segment-morphogenesis-and-survival
#9
Emma M Lessieur, Joseph Fogerty, Robert J Gaivin, Ping Song, Brian D Perkins
Purpose: Joubert syndrome (JBTS) is an autosomal recessive ciliopathy with considerable phenotypic variability. In addition to central nervous system abnormalities, a subset of JBTS patients exhibit retinal dystrophy and/or kidney disease. Mutations in the AHI1 gene are causative for approximately 10% of all JBTS cases. The purpose of this study was to generate ahi1 mutant alleles in zebrafish and to characterize the retinal phenotypes. Methods: Zebrafish ahi1 mutants were generated using transcription activator-like effector nucleases (TALENs)...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28100783/dual-functional-roles-of-molecular-beacon-a-microrna-detector-and-inhibitor
#10
Wai Ming Li, Ching-Man Chan, Andrew L Miller, Chow H Lee
MicroRNAs are essential in many cellular processes. The ability to detect microRNAs is important for understanding its function and biogenesis. This study is aimed at using a molecular beacon to detect miR-430 in developing zebrafish embryos as a proof of principle. miR-430 is crucial for the clearance of maternal mRNA during maternal zygotic transition (MZT) in embryonic development. Despite its known function, the temporal and spatial expression of miR-430 remains unclear. We used various imaging techniques, including laser scanning confocal microscopy, spinning disk and lightsheet microscopy, to study the localization of miR-430 and any developmental defects possibly caused by the molecular beacon...
January 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28060344/visualizing-the-interrenal-steroidogenic-tissue-and-its-vascular-microenvironment-in-zebrafish
#11
Chih-Wei Chou, Jamie Lin, Hsin-Yu Hou, Yi-Wen Liu
This protocol introduces how to detect differentiated interrenal steroidogenic cells through a simple whole-mount enzymatic activity assay. Identifying differentiated steroidogenic tissues through chromogenic histochemical staining of 3-β-Hydroxysteroid dehydrogenase /Δ(5-4) isomerase (3β-Hsd) activity-positive cells is critical for monitoring the morphology and differentiation of adrenocortical and interrenal tissues in mammals and teleosts, respectively. In the zebrafish model, the optical transparency and tissue permeability of the developing embryos and larvae allow for whole-mount staining of 3β-Hsd activity...
December 21, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28007903/autophagy-activators-suppress-cystogenesis-in-an-autosomal-dominant-polycystic-kidney-disease-model
#12
Ping Zhu, Cynthia J Sieben, Xiaolei Xu, Peter C Harris, Xueying Lin
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2 It is one of the most common heritable human diseases with eventual development of renal failure; however, effective treatment is lacking. While inhibition of mechanistic target of rapamycin (mTOR) effectively slows cyst expansions in animal models, results from clinical studies are controversial, prompting further mechanistic studies of mTOR-based therapy. Here, we aim to establish autophagy, a downstream pathway of mTOR, as a new therapeutic target for PKD...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27996936/prostaglandin-signaling-regulates-nephron-segment-patterning-of-renal-progenitors-during-zebrafish-kidney-development
#13
Shahram Jevin Poureetezadi, Christina N Cheng, Joseph M Chambers, Bridgette E Drummond, Rebecca A Wingert
Kidney formation involves patterning events that induce renal progenitors to form nephrons with an intricate composition of multiple segments. Here, we performed a chemical genetic screen using zebrafish and discovered that prostaglandins, lipid mediators involved in many physiological functions, influenced pronephros segmentation. Modulating levels of prostaglandin E2 (PGE2) or PGB2 restricted distal segment formation and expanded a proximal segment lineage. Perturbation of prostaglandin synthesis by manipulating Cox1 or Cox2 activity altered distal segment formation and was rescued by exogenous PGE2...
December 20, 2016: ELife
https://www.readbyqxmd.com/read/27991862/fluorescent-aminoglycosides-reveal-intracellular-trafficking-routes-in-mechanosensory-hair-cells
#14
Dale W Hailey, Robert Esterberg, Tor H Linbo, Edwin W Rubel, David W Raible
Aminoglycosides (AGs) are broad-spectrum antibiotics that are associated with kidney damage, balance disorders, and permanent hearing loss. This damage occurs primarily by killing of proximal tubule kidney cells and mechanosensory hair cells, though the mechanisms underlying cell death are not clear. Imaging molecules of interest in living cells can elucidate how molecules enter cells, traverse intracellular compartments, and interact with sites of activity. Here, we have imaged fluorescently labeled AGs in live zebrafish mechanosensory hair cells...
February 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27965016/cross-reactivity-of-monoclonal-antibodies-against-cd4-1-and-cd8%C3%AE-of-ginbuna-crucian-carp-with-lymphocytes-of-zebrafish-and-other-cyprinid-species
#15
Ryuichiro Miyazawa, Yuta Matsuura, Yasuhiro Shibasaki, Shintaro Imamura, Teruyuki Nakanishi
We have monoclonal antibodies (mAbs) against CD4-1 (6D1) and CD8α (2C3) in ginbuna crucian carp Carassius auratus langsdorfii. In our previous studies we showed that 2C3 mAb positive cells are the primary cell type showing specific cytotoxicity against allogeneic targets, suggesting that CD8α(+) lymphocytes in ginbuna are equivalent to cytotoxic T lymphocytes (CTLs) in mammals. We further demonstrated the helper T cell function of 6D1 mAb positive cells by studying mixed leukocyte culture (MLC) and hapten/carrier effects...
December 11, 2016: Developmental and Comparative Immunology
https://www.readbyqxmd.com/read/27928463/renal-progenitors-roles-in-kidney-disease-and-regeneration
#16
REVIEW
Brooke E Chambers, Rebecca A Wingert
Kidney disease is a devastating condition that affects millions of people worldwide, and its prevalence is predicted to significantly increase. The kidney is a complex organ encompassing many diverse cell types organized in a elaborate tissue architecture, making regeneration a challenging feat. In recent years, there has been a surge in the field of stem cell research to develop regenerative therapies for various organ systems. Here, we review some recent progressions in characterizing the role of renal progenitors in development, regeneration, and kidney disease in mammals...
November 26, 2016: World Journal of Stem Cells
https://www.readbyqxmd.com/read/27920155/sos2-and-acp1-loci-identified-through-large-scale-exome-chip-analysis-regulate-kidney-development-and-function
#17
Man Li, Yong Li, Olivia Weeks, Vladan Mijatovic, Alexander Teumer, Jennifer E Huffman, Gerard Tromp, Christian Fuchsberger, Mathias Gorski, Leo-Pekka Lyytikäinen, Teresa Nutile, Sanaz Sedaghat, Rossella Sorice, Adrienne Tin, Qiong Yang, Tarunveer S Ahluwalia, Dan E Arking, Nathan A Bihlmeyer, Carsten A Böger, Robert J Carroll, Daniel I Chasman, Marilyn C Cornelis, Abbas Dehghan, Jessica D Faul, Mary F Feitosa, Giovanni Gambaro, Paolo Gasparini, Franco Giulianini, Iris Heid, Jinyan Huang, Medea Imboden, Anne U Jackson, Janina Jeff, Min A Jhun, Ronit Katz, Annette Kifley, Tuomas O Kilpeläinen, Ashish Kumar, Markku Laakso, Ruifang Li-Gao, Kurt Lohman, Yingchang Lu, Reedik Mägi, Giovanni Malerba, Evelin Mihailov, Karen L Mohlke, Dennis O Mook-Kanamori, Antonietta Robino, Douglas Ruderfer, Erika Salvi, Ursula M Schick, Christina-Alexandra Schulz, Albert V Smith, Jennifer A Smith, Michela Traglia, Laura M Yerges-Armstrong, Wei Zhao, Mark O Goodarzi, Aldi T Kraja, Chunyu Liu, Jennifer Wessel, Eric Boerwinkle, Ingrid B Borecki, Jette Bork-Jensen, Erwin P Bottinger, Daniele Braga, Ivan Brandslund, Jennifer A Brody, Archie Campbell, David J Carey, Cramer Christensen, Josef Coresh, Errol Crook, Gary C Curhan, Daniele Cusi, Ian H de Boer, Aiko P J de Vries, Joshua C Denny, Olivier Devuyst, Albert W Dreisbach, Karlhans Endlich, Tõnu Esko, Oscar H Franco, Tibor Fulop, Glenn S Gerhard, Charlotte Glümer, Omri Gottesman, Niels Grarup, Vilmundur Gudnason, Tamara B Harris, Caroline Hayward, Lynne Hocking, Albert Hofman, Frank B Hu, Lise Lotte N Husemoen, Rebecca D Jackson, Torben Jørgensen, Marit E Jørgensen, Mika Kähönen, Sharon L R Kardia, Wolfgang König, Charles Kooperberg, Jennifer Kriebel, Lenore J Launer, Torsten Lauritzen, Terho Lehtimäki, Daniel Levy, Pamela Linksted, Allan Linneberg, Yongmei Liu, Ruth J F Loos, Antonio Lupo, Christine Meisinger, Olle Melander, Andres Metspalu, Paul Mitchell, Matthias Nauck, Peter Nürnberg, Marju Orho-Melander, Afshin Parsa, Oluf Pedersen, Annette Peters, Ulrike Peters, Ozren Polasek, David Porteous, Nicole M Probst-Hensch, Bruce M Psaty, Lu Qi, Olli T Raitakari, Alex P Reiner, Rainer Rettig, Paul M Ridker, Fernando Rivadeneira, Jacques E Rossouw, Frank Schmidt, David Siscovick, Nicole Soranzo, Konstantin Strauch, Daniela Toniolo, Stephen T Turner, André G Uitterlinden, Sheila Ulivi, Dinesh Velayutham, Uwe Völker, Henry Völzke, Melanie Waldenberger, Jie Jin Wang, David R Weir, Daniel Witte, Helena Kuivaniemi, Caroline S Fox, Nora Franceschini, Wolfram Goessling, Anna Köttgen, Audrey Y Chu
Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (nStage1: 111,666; nStage2: 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; PStage1<3...
December 5, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27882940/mdm2-prevents-spontaneous-tubular-epithelial-cell-death-and-acute-kidney-injury
#18
Dana Thomasova, Martrez Ebrahim, Kristina Fleckinger, Moying Li, Jakob Molnar, Bastian Popper, Helen Liapis, Ahmed M Kotb, Florian Siegerist, Nicole Endlich, Hans-Joachim Anders
Murine double minute-2 (MDM2) is an E3-ubiquitin ligase and the main negative regulator of tumor suppressor gene p53. MDM2 has also a non-redundant function as a modulator of NF-kB signaling. As such it promotes proliferation and inflammation. MDM2 is highly expressed in the unchallenged tubular epithelial cells and we hypothesized that MDM2 is necessary for their survival and homeostasis. MDM2 knockdown by siRNA or by genetic depletion resulted in demise of tubular cells in vitro. This phenotype was completely rescued by concomitant knockdown of p53, thus suggesting p53 dependency...
November 24, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27882921/a-mutation-in-vps15-pik3r4-causes-a-ciliopathy-and-affects-ift20-release-from-the-cis-golgi
#19
Corinne Stoetzel, Séverine Bär, Johan-Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer R Reck, Isabelle Perrault, Véronique Geoffroy, Kirsley Chennen, Uwe Strähle, Philippe Hammann, Sylvie Friant, Hélène Dollfus
Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we identify a missense mutation in PIK3R4 (phosphoinositide 3-kinase regulatory subunit 4, named VPS15) in a family with a ciliopathy phenotype. Besides being required for trafficking and autophagy, we show that VPS15 regulates primary cilium length in human fibroblasts, as well as ciliary processes in zebrafish. Furthermore, we demonstrate its interaction with the golgin GM130 and its localization to the Golgi. The VPS15-R998Q patient mutation impairs Golgi trafficking functions in humanized yeast cells...
November 24, 2016: Nature Communications
https://www.readbyqxmd.com/read/27852607/ion-transport-in-the-zebrafish-kidney-from-a-human-disease-angle-possibilities-considerations-and-future-perspectives
#20
Simone Kersten, Francisco J Arjona
Unique experimental advantages, such as its embryonic/larval transparency, high-throughput nature and ease of genetic modification, underpin the rapid emergence of the zebrafish (Danio rerio) as a preeminent model in biomedical research. Particularly in the field of nephrology, the zebrafish provides a promising model for studying the physiological implications of human solute transport processes along consecutive nephron segments. However, while the zebrafish might be considered a valuable model for numerous renal ion transport diseases and functional studies of many channels and transporters, not all human renal electrolyte transport mechanisms and human diseases can be modeled in the zebrafish...
November 16, 2016: American Journal of Physiology. Renal Physiology
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