Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: SLC7A9[original query] |
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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 |
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 |
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 |
A genome-wide association study of metabolic traits in human urine.
Nature genetics 2011 Jun 43 (6): 565-9. Suhre Karsten, Wallaschofski Henri, Raffler Johannes, Friedrich Nele, Haring Robin, Michael Kathrin, Wasner Christina, Krebs Alexander, Kronenberg Florian, Chang David, Meisinger Christa, Wichmann H-Erich, Hoffmann Wolfgang, Völzke Henry, Völker Uwe, Teumer Alexander, Biffar Reiner, Kocher Thomas, Felix Stephan B, Illig Thomas, Kroemer Heyo K, Gieger Christian, Römisch-Margl Werner, Nauck Matthi |
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 |
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 |
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria. Urolithiasis 2015 Oct 43 (5): 447-53. Koulivand Leila, Mohammadi Mehrdad, Ezatpour Behrouz, Salehi Rasoul, Markazi Samane, Dashti Sepideh, Kheirollahi Maj |
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 |
A metabolite-GWAS (mGWAS) approach to unveil chronic kidney disease progression. Kidney international 2017 Jun 91 (6): 1274-1276. Zhang Guanshi, Saito Rintaro, Sharma Kum |
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 |
In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria. Molecular biology reports 2018 8 45 (5): 1165-1173. Mahdavi Manijeh, Koulivand Leila, Khorrami Mehdi, Mirsafaie Maryam, Kheirollahi Maj |
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 |
Genomic risk variants at 3q22.3 are associated with keloids in a Chinese Han population. American journal of translational research 2018 10 (2): 554-562. Lu Meng-Zhu, Ang Qian-Qian, Zhang Xiang, Zhang Lan-Fang, Yao Xiu-Hua, Lv Hong, Zheng Xiao-Dong, Lu Wen-She |
Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.
Journal of the American Society of Nephrology : JASN 2018 May 29 (5): 1513-1524. Li Yong, Sekula Peggy, Wuttke Matthias, Wahrheit Judith, Hausknecht Birgit, Schultheiss Ulla T, Gronwald Wolfram, Schlosser Pascal, Tucci Sara, Ekici Arif B, Spiekerkoetter Ute, Kronenberg Florian, Eckardt Kai-Uwe, Oefner Peter J, Köttgen Anna, |
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 |
Novel Haplotype Indicator for End-Stage Renal Disease Progression among Saudi Patients. International journal of nephrology 2019 9 2019 1095215. Cyrus Cyril, Chathoth Shahanas, Vatte Chittibabu, Alrubaish Nafie, Almuhanna Othman, Borgio J Francis, Al-Mueilo Samir, Al Muhanna Fahd, Al Ali Amein |
Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9. Frontiers in genetics 2020 3 11 74. Li Chuangye, Yang Yongjia, Zheng Yu, Shen Fang, Liu Li, Li Yanfang, Li Liping, Zhao Yaowa |
[A complicated case of calcium urolithiasis in a carrier of SLC7A9 gene mutation responsible for cystinuria]. Urologiia (Moscow, Russia : 1999) 2020 12 (6): 126-130. Litvinova M M, Filippova T V, Khafizov K F, Svetlichnaya D V, Ahmedzyanova D A, Rudenko V I, Gadzhieva Z K, Shumikhina M |
Non-contrast computed tomography characteristics in a large cohort of cystinuria patients. World journal of urology 2020 11 39 (7): 2753-2757. Warren Hannah, Poon Daniel, Srinivasan Rohit, Thomas Kerushan, Rottenberg Giles, Bultitude Matthew, Thomas K |
Genetic Variants Associated with Chronic Kidney Disease in a Spanish Population. Scientific reports 2020 Jan 10 (1): 144. Corredor Zuray, Filho Miguel Inácio da Silva, Rodríguez-Ribera Lara, Velázquez Antonia, Hernández Alba, Catalano Calogerina, Hemminki Kari, Coll Elisabeth, Silva Irene, Diaz Juan Manuel, Ballarin José, Vallés Prats Martí, Calabia Martínez Jordi, Försti Asta, Marcos Ricard, Pastor Susa |
Analysis of SLC7A9 gene mutations among Jordanian patients with cystinuria. Annals of medicine and surgery (2012) 2021 3 63 102182. Halalsheh Omar M, Al-Shehabat Mustafa A, Al-Ghazo Moh''D A, Al-Ghalayini Ibrahim F, Altal Yaman A, Al-Okour Radwan, Altal Om |
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability. American journal of medical genetics. Part C, Seminars in medical genetics 2022 8 190 (3): 279-288. Schönauer Ria, Scherer Lotte, Nemitz-Kliemchen Melanie, Hagemann Tobias, Hantmann Elena, Seidel Anna, Müller Luise, Kehr Stephanie, Voigt Cornelia, Stolzenburg Jens-Uwe, Halbritter J |
Metabolic and Genetic Evaluation in Children with Nephrolithiasis. Indian journal of pediatrics 2022 Jul . Mandal Anita, Khandelwal Priyanka, Geetha Thenral S, Murugan Sakthivel, Meena Jitendra, Jana Manisha, Sinha Aditi, Kumar Rajeev, Seth Amlesh, Hari Pankaj, Bagga Arvi |
Genetic and clinical analysis of Chinese pediatric patients with cystinuria. Urolithiasis 2022 12 51 (1): 20. Zhan Ruichao, Ge Yucheng, Liu Yukun, Zhao Zhenqiang, Wang Wenyi |
Association of Predicted Expression and Multimodel Association Analysis of Substance Abuse Traits. Complex psychiatry 2022 11 8 (1-2): 35-46. Bost Darius M, Bizon Chris, Tilson Jeffrey L, Filer Dayne L, Gizer Ian R, Wilhelmsen Kirk |
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain. Urolithiasis 2023 8 51 (1): 101. Chen-Han Wilfred Wu, Jad Badreddine, Joshua Chang, Yu-Ren Mike Huang, Fernando J Kim, Trevor Wild, Anne Chun-Hui Tsai, Naomi Meeks, Rodrigo Donalisio Da Silva, Wilson R Molina, Fredrick R Schumach |
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients. Pediatric nephrology (Berlin, Germany) 2023 6 . Yukun Liu, Yucheng Ge, Ruichao Zhan, Zhenqiang Zhao, Jun Li, Wenying Wa |
Evaluation of the value of genetic testing for cystinuria in the Danish population of English bulldogs. Animal genetics 2023 3 . Fitzwilliams Therese, Wolff-Sneedorff Julie L, Fredholm Merete, Karlskov-Mortensen Peter, Guldbrandtsen Bernt, Bruun Camilla |
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study. International journal of molecular sciences 2023 12 24 (24): . Clara Mayayo-Vallverdú, Esther Prat, Marta Vecino-Pérez, Laura González, Silvia Gràcia-Garcia, Luz San Miguel, Noelia Lopera, Angela Arias, Rafael Artuch, Miguel López de Heredia, Carlos Torrecilla, Ferran Rousaud-Barón, Oriol Angerri, Ekaitz Errasti-Murugarren, Virginia Nun |
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience. Biomedicines 2023 10 11 (10): . Jae Yong Jeong, Kyung Jin Oh, Jun Seok Sohn, Dae Young Jun, Jae Il Shin, Keum Hwa Lee, Joo Yong L |
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