HuGE Literature Finder
Records 1-16
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No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.
BMC nephrology 2018 Oct 19 (1): 278. Olschok Kathrin, Vester Udo, Lahme Sven, Kurth Ingo, Eggermann Thom |
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Assessing known chronic kidney disease associated genetic variants in Saudi Arabian populations.
BMC nephrology 2018 Apr 19 (1): 88. Cyrus Cyril, Al-Mueilo Samir, Vatte Chittibabu, Chathoth Shahanas, Li Yun R, Qutub Hatem, Al Ali Rudaynah, Al-Muhanna Fahad, Lanktree Matthew B, Alkharsah Khaled Riyad, Al-Rubaish Abdullah, Kim-Mozeleski Brian, Keating Brendan, Al Ali Ame |
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Urinary metabolites along with common and rare genetic variations are associated with incident chronic kidney disease.
Kidney international 2017 Mar . McMahon Gearoid M, Hwang Shih-Jen, Clish Clary B, Tin Adrienne, Yang Qiong, Larson Martin G, Rhee Eugene P, Li Man, , Levy Daniel, O'Donnell Christopher J, Coresh Josef, Young J Hunter, Gerszten Robert E, Fox Caroline |
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Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans.
Human genetics 2016 Jul . Guan Meijian, Ma Jun, Keaton Jacob M, Dimitrov Latchezar, Mudgal Poorva, Stromberg Mary, Bonomo Jason A, Hicks Pamela J, Freedman Barry I, Bowden Donald W, Ng Maggie C |
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Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.
Journal of the American Society of Nephrology : JASN 2015 Mar 26 (3): 543-51. Halbritter Jan, Baum Michelle, Hynes Ann Marie, Rice Sarah J, Thwaites David T, Gucev Zoran S, Fisher Brittany, Spaneas Leslie, Porath Jonathan D, Braun Daniela A, Wassner Ari J, Nelson Caleb P, Tasic Velibor, Sayer John A, Hildebrandt Friedhe |
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
PLoS genetics 2014 Feb 10 (2): e1004132. Rueedi Rico, Ledda Mirko, Nicholls Andrew W, Salek Reza M, Marques-Vidal Pedro, Morya Edgard, Sameshima Koichi, Montoliu Ivan, Da Silva Laeticia, Collino Sebastiano, Martin François-Pierre, Rezzi Serge, Steinbeck Christoph, Waterworth Dawn M, Waeber Gérard, Vollenweider Peter, Beckmann Jacques S, Le Coutre Johannes, Mooser Vincent, Bergmann Sven, Genick Ulrich K, Kutalik Zolt |
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Genetic loci influencing kidney function and chronic kidney disease.
Nature genetics 2010 May 42 (5): 373-5. Chambers John C, Zhang Weihua, Lord Graham M, van der Harst Pim, Lawlor Debbie A, Sehmi Joban S, Gale Daniel P, Wass Mark N, Ahmadi Kourosh R, Bakker Stephan J L, Beckmann Jacqui, Bilo Henk J G, Bochud Murielle, Brown Morris J, Caulfield Mark J, Connell John M C, Cook H Terence, Cotlarciuc Ioana, Davey Smith George, de Silva Ranil, Deng Guohong, Devuyst Olivier, Dikkeschei Lambert D, Dimkovic Nada, Dockrell Mark, Dominiczak Anna, Ebrahim Shah, Eggermann Thomas, Farrall Martin, Ferrucci Luigi, Floege Jurgen, Forouhi Nita G, Gansevoort Ron T, Han Xijin, Hedblad Bo, Homan van der Heide Jaap J, Hepkema Bouke G, Hernandez-Fuentes Maria, Hypponen Elina, Johnson Toby, de Jong Paul E, Kleefstra Nanne, Lagou Vasiliki, Lapsley Marta, Li Yun, Loos Ruth J F, Luan Jian'an, Luttropp Karin, Maréchal Céline, Melander Olle, Munroe Patricia B, Nordfors Louise, Parsa Afshin, Peltonen Leena, Penninx Brenda W, Perucha Esperanza, Pouta Anneli, Prokopenko Inga, Roderick Paul J, Ruokonen Aimo, Samani Nilesh J, Sanna Serena, Schalling Martin, Schlessinger David, Schlieper Georg, Seelen Marc A J, Shuldiner Alan R, Sjögren Marketa, Smit Johannes H, Snieder Harold, Soranzo Nicole, Spector Timothy D, Stenvinkel Peter, Sternberg Michael J E, Swaminathan Ramasamyiyer, Tanaka Toshiko, Ubink-Veltmaat Lielith J, Uda Manuela, Vollenweider Peter, Wallace Chris, Waterworth Dawn, Zerres Klaus, Waeber Gerard, Wareham Nicholas J, Maxwell Patrick H, McCarthy Mark I, Jarvelin Marjo-Riitta, Mooser Vincent, Abecasis Goncalo R, Lightstone Liz, Scott James, Navis Gerjan, Elliott Paul, Kooner Jaspal |
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New loci associated with kidney function and chronic kidney disease.
Nature genetics 2010 May 42 (5): 376-84. Köttgen Anna, Pattaro Cristian, Böger Carsten A, Fuchsberger Christian, Olden Matthias, Glazer Nicole L, Parsa Afshin, Gao Xiaoyi, Yang Qiong, Smith Albert V, O'Connell Jeffrey R, Li Man, Schmidt Helena, Tanaka Toshiko, Isaacs Aaron, Ketkar Shamika, Hwang Shih-Jen, Johnson Andrew D, Dehghan Abbas, Teumer Alexander, Paré Guillaume, Atkinson Elizabeth J, Zeller Tanja, Lohman Kurt, Cornelis Marilyn C, Probst-Hensch Nicole M, Kronenberg Florian, Tönjes Anke, Hayward Caroline, Aspelund Thor, Eiriksdottir Gudny, Launer Lenore J, Harris Tamara B, Rampersaud Evadnie, Mitchell Braxton D, Arking Dan E, Boerwinkle Eric, Struchalin Maksim, Cavalieri Margherita, Singleton Andrew, Giallauria Francesco, Metter Jeffrey, de Boer Ian H, Haritunians Talin, Lumley Thomas, Siscovick David, Psaty Bruce M, Zillikens M Carola, Oostra Ben A, Feitosa Mary, Province Michael, de Andrade Mariza, Turner Stephen T, Schillert Arne, Ziegler Andreas, Wild Philipp S, Schnabel Renate B, Wilde Sandra, Munzel Thomas F, Leak Tennille S, Illig Thomas, Klopp Norman, Meisinger Christa, Wichmann H-Erich, Koenig Wolfgang, Zgaga Lina, Zemunik Tatijana, Kolcic Ivana, Minelli Cosetta, Hu Frank B, Johansson Asa, Igl Wilmar, Zaboli Ghazal, Wild Sarah H, Wright Alan F, Campbell Harry, Ellinghaus David, Schreiber Stefan, Aulchenko Yurii S, Felix Janine F, Rivadeneira Fernando, Uitterlinden Andre G, Hofman Albert, Imboden Medea, Nitsch Dorothea, Brandstätter Anita, Kollerits Barbara, Kedenko Lyudmyla, Mägi Reedik, Stumvoll Michael, Kovacs Peter, Boban Mladen, Campbell Susan, Endlich Karlhans, Völzke Henry, Kroemer Heyo K, Nauck Matthias, Völker Uwe, Polasek Ozren, Vitart Veronique, Badola Sunita, Parker Alexander N, Ridker Paul M, Kardia Sharon L R, Blankenberg Stefan, Liu Yongmei, Curhan Gary C, Franke Andre, Rochat Thierry, Paulweber Bernhard, Prokopenko Inga, Wang Wei, Gudnason Vilmundur, Shuldiner Alan R, Coresh Josef, Schmidt Reinhold, Ferrucci Luigi, Shlipak Michael G, van Duijn Cornelia M, Borecki Ingrid, Krämer Bernhard K, Rudan Igor, Gyllensten Ulf, Wilson James F, Witteman Jacqueline C, Pramstaller Peter P, Rettig Rainer, Hastie Nick, Chasman Daniel I, Kao W H, Heid Iris M, Fox Caroline |
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Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
Molecular genetics and metabolism 2010 Jan 99 (1): 42-52. Bisceglia Luigi, Fischetti Lucia, Bonis Patrizia De, Palumbo Orazio, Augello Bartolomeo, Stanziale Pietro, Carella Massimo, Zelante Leopol |
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An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients.
Molecular genetics and metabolism 2008 Nov 95 (3): 192-3. Chatzikyriakidou Anthoula, Louizou Eirini, Dedousis George V Z, Bisceglia Luigi, Michelakakis Helen, Georgiou Ioann |
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A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.
Kidney international 2006 Apr 69 (7): 1198-206. Shigeta Y, Kanai Y, Chairoungdua A, Ahmed N, Sakamoto S, Matsuo H, Kim D K, Fujimura M, Anzai N, Mizoguchi K, Ueda T, Akakura K, Ichikawa T, Ito H, Endou |
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New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
Journal of medical genetics 2005 Jan 42 (1): 58-68. Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes |
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The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
Urological research 2004 May 32 (2): 75-8. Schmidt C, Vester U, Hesse A, Lahme S, Lang F, Zerres K, Eggermann T |
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Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls.
Clinical nephrology 2003 May 59 (5): 353-9. Schmidt C, Tomiuk J, Botzenhart E, Vester U, Halber M, Hesse A, Wagner C, Lahme S, Lang F, Zerres K, Eggermann T, Bachmann H, Bökenkamp A, Fischbach M, Fründ S, Pistor K G, Zappel H F, |
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Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
Genetic testing 2003 7 (1): 13-20. Harnevik Lotta, Fjellstedt Erik, Molbaek Annette, Denneberg Torsten, Söderkvist Pet |
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Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
Journal of the American Society of Nephrology : JASN 2002 Oct 13 (10): 2547-53. Dello Strologo Luca, Pras Elon, Pontesilli Claudia, Beccia Ercole, Ricci-Barbini Vittorino, de Sanctis Luisa, Ponzone Alberto, Gallucci Michele, Bisceglia Luigi, Zelante Leopoldo, Jimenez-Vidal Maite, Font Mariona, Zorzano Antonio, Rousaud Ferran, Nunes Virginia, Gasparini Paolo, Palacín Manuel, Rizzoni Gianfran |
- Page last reviewed:Jul 30, 2019
- Page last updated:Jan 23, 2020
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