Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Disease and PRKAG2[original query] |
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| Shared genetic causes of cardiac hypertrophy in children and adults. The New England journal of medicine 2008 May 358 (18): 1899-908. Morita Hiroyuki, Rehm Heidi L, Menesses Andres, McDonough Barbara, Roberts Amy E, Kucherlapati Raju, Towbin Jeffrey A, Seidman J G, Seidman Christine |
| Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2009 Oct 2 (5): 436-41. Kaski Juan Pablo, Syrris Petros, Esteban Maria Teresa Tome, Jenkins Sharon, Pantazis Antonios, Deanfield John E, McKenna William J, Elliott Perry |
| Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease. Diabetes research and clinical practice 2010 Feb 87 (2): e7-10. Nouira S, Arfa I, Kammoun I, Abid A, Ouragini H, Dorboz I, Ghazouani W, Fadhel S Ben, Zorgati M M, Ammar S Ben, Blousa-Chabchoub S, Kachboura S, Abdelhak |
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 |
| Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development. The HUGO journal 2009 Dec 3 (1-4): 31-40. Liu Jianjun, Desai Kartiki Vasant, Li Yuqing, Banu Shakeela, Lee Yew Kok, Qu Dianbo, Heikkinen Tuomas, Aaltonen Kirsimari, Muranen Taru A, Kajiji Tasneem Shabbir, Bonnard Carine, Aittomäki Kristiina, von Smitten Karl, Blomqvist Carl, Hopper John L, Southey Melissa C, Brauch Hiltrud, , Chenevix-Trench Georgia, Beesley Jonathan, Spurdle Amanda B, Chen Xiaoqing, , , Czene Kamila, Hall Per, Nevanlinna Heli, Liu Edison |
| Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2011 Jun 4 (3): 288-95. Gruner Christiane, Care Melanie, Siminovitch Katherine, Moravsky Gil, Wigle E Douglas, Woo Anna, Rakowski Har |
| Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD. PLoS genetics 2011 Sep 7 (9): e1002292. Böger Carsten A, Gorski Mathias, Li Man, Hoffmann Michael M, Huang Chunmei, Yang Qiong, Teumer Alexander, Krane Vera, O'Seaghdha Conall M, Kutalik Zoltán, Wichmann H-Erich, Haak Thomas, Boes Eva, Coassin Stefan, Coresh Josef, Kollerits Barbara, Haun Margot, Paulweber Bernhard, Köttgen Anna, Li Guo, Shlipak Michael G, Powe Neil, Hwang Shih-Jen, Dehghan Abbas, Rivadeneira Fernando, Uitterlinden André, Hofman Albert, Beckmann Jacques S, Krämer Bernhard K, Witteman Jacqueline, Bochud Murielle, Siscovick David, Rettig Rainer, Kronenberg Florian, Wanner Christoph, Thadhani Ravi I, Heid Iris M, Fox Caroline S, Kao W H, |
| Generalization of associations of kidney-related genetic loci to American Indians. Clinical journal of the American Society of Nephrology : CJASN 2013 Dec . Franceschini N, Haack K, Almasy L, Laston S, Lee ET, Best LG, Fabsitz RR, Maccluer JW, Howard BV, Umans JG, Cole SA |
| Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. American journal of human genetics 2014 Mar 94 (3): 349-60. Tragante Vinicius, Barnes Michael R, Ganesh Santhi K, Lanktree Matthew B, Guo Wei, Franceschini Nora, Smith Erin N, Johnson Toby, Holmes Michael V, Padmanabhan Sandosh, Karczewski Konrad J, Almoguera Berta, Barnard John, Baumert Jens, Chang Yen-Pei Christy, Elbers Clara C, Farrall Martin, Fischer Mary E, Gaunt Tom R, Gho Johannes M I H, Gieger Christian, Goel Anuj, Gong Yan, Isaacs Aaron, Kleber Marcus E, Mateo Leach Irene, McDonough Caitrin W, Meijs Matthijs F L, Melander Olle, Nelson Christopher P, Nolte Ilja M, Pankratz Nathan, Price Tom S, Shaffer Jonathan, Shah Sonia, Tomaszewski Maciej, van der Most Peter J, Van Iperen Erik P A, Vonk Judith M, Witkowska Kate, Wong Caroline O L, Zhang Li, Beitelshees Amber L, Berenson Gerald S, Bhatt Deepak L, Brown Morris, Burt Amber, Cooper-DeHoff Rhonda M, Connell John M, Cruickshanks Karen J, Curtis Sean P, Davey-Smith George, Delles Christian, Gansevoort Ron T, Guo Xiuqing, Haiqing Shen, Hastie Claire E, Hofker Marten H, Hovingh G Kees, Kim Daniel S, Kirkland Susan A, Klein Barbara E, Klein Ronald, Li Yun R, Maiwald Steffi, Newton-Cheh Christopher, O'Brien Eoin T, Onland-Moret N Charlotte, Palmas Walter, Parsa Afshin, Penninx Brenda W, Pettinger Mary, Vasan Ramachandran S, Ranchalis Jane E, M Ridker Paul, Rose Lynda M, Sever Peter, Shimbo Daichi, Steele Laura, Stolk Ronald P, Thorand Barbara, Trip Mieke D, van Duijn Cornelia M, Verschuren W Monique, Wijmenga Cisca, Wyatt Sharon, Young J Hunter, Zwinderman Aeilko H, Bezzina Connie R, Boerwinkle Eric, Casas Juan P, Caulfield Mark J, Chakravarti Aravinda, Chasman Daniel I, Davidson Karina W, Doevendans Pieter A, Dominiczak Anna F, FitzGerald Garret A, Gums John G, Fornage Myriam, Hakonarson Hakon, Halder Indrani, Hillege Hans L, Illig Thomas, Jarvik Gail P, Johnson Julie A, Kastelein John J P, Koenig Wolfgang, Kumari Meena, März Winfried, Murray Sarah S, O'Connell Jeffery R, Oldehinkel Albertine J, Pankow James S, Rader Daniel J, Redline Susan, Reilly Muredach P, Schadt Eric E, Kottke-Marchant Kandice, Snieder Harold, Snyder Michael, Stanton Alice V, Tobin Martin D, Uitterlinden André G, van der Harst Pim, van der Schouw Yvonne T, Samani Nilesh J, Watkins Hugh, Johnson Andrew D, Reiner Alex P, Zhu Xiaofeng, de Bakker Paul I W, Levy Daniel, Asselbergs Folkert W, Munroe Patricia B, Keating Brendan |
| Four genetic variants interact to confer susceptibility to atopic dermatitis in Chinese Han population. Molecular genetics and genomics : MGG 2015 Aug 290 (4): 1493-8. Shen Changbing, Liu Longdan, Jiang Zengqiong, Zheng Xiaodong, Meng Li, Yin Xianyong, Gao Jing, Sheng Yujun, Gao Jingping, Li Yang, Zhou Fusheng, Xiao Fengli, Sun Liangdan, Cui Yong, Yang Sen, Zuo Xianbo, Zhang Xuej |
| Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. International journal of molecular medicine 2016 Apr . Zhao Yue, Cao Hong, Song Yindi, Feng Yue, Ding Xiaoxue, Pang Mingjie, Zhang Yunmei, Zhang Hong, Ding Jiahuan, Xia Xuesh |
| Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PloS one 2017 12 (8): e0181465. Mademont-Soler Irene, Mates Jesus, Yotti Raquel, Espinosa Maria Angeles, Pérez-Serra Alexandra, Fernandez-Avila Ana Isabel, Coll Monica, Méndez Irene, Iglesias Anna, Del Olmo Bernat, Riuró Helena, Cuenca Sofía, Allegue Catarina, Campuzano Oscar, Picó Ferran, Ferrer-Costa Carles, Álvarez Patricia, Castillo Sergio, Garcia-Pavia Pablo, Gonzalez-Lopez Esther, Padron-Barthe Laura, Díaz de Bustamante Aranzazu, Darnaude María Teresa, González-Hevia José Ignacio, Brugada Josep, Fernandez-Aviles Francisco, Brugada Ram |
| Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. PloS one 2017 8 12 (8): e0182946. Mendes de Almeida Rita, Tavares Joana, Martins Sandra, Carvalho Teresa, Enguita Francisco J, Brito Dulce, Carmo-Fonseca Maria, Lopes Luís Roc |
| A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes.
Diabetes 2018 07 67 (7): 1414-1427. van Zuydam Natalie R, Ahlqvist Emma, Sandholm Niina, Deshmukh Harshal, Rayner N William, Abdalla Moustafa, Ladenvall Claes, Ziemek Daniel, Fauman Eric, Robertson Neil R, McKeigue Paul M, Valo Erkka, Forsblom Carol, Harjutsalo Valma, , Perna Annalisa, Rurali Erica, Marcovecchio M Loredana, Igo Robert P, Salem Rany M, Perico Norberto, Lajer Maria, Käräjämäki Annemari, Imamura Minako, Kubo Michiaki, Takahashi Atsushi, Sim Xueling, Liu Jianjun, van Dam Rob M, Jiang Guozhi, Tam Claudia H T, Luk Andrea O Y, Lee Heung Man, Lim Cadmon K P, Szeto Cheuk Chun, So Wing Yee, Chan Juliana C N, , Ang Su Fen, Dorajoo Rajkumar, Wang Ling, Clara Tan Si Hua, McKnight Amy-Jayne, Duffy Seamus, , Pezzolesi Marcus G, , Marre Michel, Gyorgy Beata, Hadjadj Samy, Hiraki Linda T, , Ahluwalia Tarunveer S, Almgren Peter, Schulz Christina-Alexandra, Orho-Melander Marju, Linneberg Allan, Christensen Cramer, Witte Daniel R, Grarup Niels, Brandslund Ivan, Melander Olle, Paterson Andrew D, Tregouet David, Maxwell Alexander P, Lim Su Chi, Ma Ronald C W, Tai E Shyong, Maeda Shiro, Lyssenko Valeriya, Tuomi Tiinamaija, Krolewski Andrzej S, Rich Stephen S, Hirschhorn Joel N, Florez Jose C, Dunger David, Pedersen Oluf, Hansen Torben, Rossing Peter, Remuzzi Giuseppe, , Brosnan Mary Julia, Palmer Colin N A, Groop Per-Henrik, Colhoun Helen M, Groop Leif C, McCarthy Mark |
| Patient with a PRKAG2 mutation who developed Immunoglobulin A nephropathy: a case report. European heart journal. Case reports 2019 8 3 (2): . Giudici Michael C, Ahmad Ferhaan, Holanda Danniele |
| SNPs rs10224002 in PRKAG2 may disturb gene expression and consequently affect hypertension. Molecular biology reports 2019 Jan . Mo Xingbo, Zhang Huan, Zhou Zhengyuan, Zhu Zhengbao, HuangFu Xinfeng, Xu Tan, Wang Aili, Guo Zhirong, Zhang Yongho |
| Genome-wide association study identifies new loci for albuminuria in the Japanese population.
Clinical and experimental nephrology 2020 Apr . Okuda Hiroshi, Okamoto Koji, Abe Michiaki, Ishizawa Kota, Makino Satoshi, Tanabe Osamu, Sugawara Junichi, Hozawa Atsushi, Tanno Kozo, Sasaki Makoto, Tamiya Gen, Yamamoto Masayuki, Ito Sadayoshi, Ishii Tadas |
| Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort. Scientific reports 2020 11 10 (1): 20610. Ahamed Hisham, Balegadde Aniketh Vijay, Menon Shilpa, Menon Ramesh, Ramachandran Aishwarya, Mathew Navin, Natarajan K U, Nair Indu Ramachandran, Kannan Rajesh, Shankar Meghna, Mathew Oommen K, Nguyen Thong T, Gupta Ravi, Stawiski Eric W, Ramprasad V L, Seshagiri Somasekar, Phalke Same |
| Monogenic basis of young-onset cryptogenic stroke: a multicenter study. Annals of translational medicine 2022 May 10 (9): 512. Yuan Wei-Zhuang, Shang Liang, Tian Dai-Shi, Wu Shi-Wen, You Yong, Tian Cheng-Lin, Wu Bo, Liu Jun, Sun Qin-Jian, Liu Qing, Xu Wei-H |
| Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. JAMA cardiology 2022 5 7 (7): 723-732. Patel Aniruddh P, Dron Jacqueline S, Wang Minxian, Pirruccello James P, Ng Kenney, Natarajan Pradeep, Lebo Matthew, Ellinor Patrick T, Aragam Krishna G, Khera Amit |
| Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases.
JCI insight 2022 4 7 (10): . Li Yong, Cheng Yurong, Consolato Francesco, Schiano Guglielmo, Chong Michael R, Pietzner Maik, Nguyen Ngoc Quynh H, Scherer Nora, Biggs Mary L, Kleber Marcus E, Haug Stefan, Göçmen Burulça, Pigeyre Marie, Sekula Peggy, Steinbrenner Inga, Schlosser Pascal, Joseph Christina B, Brody Jennifer A, Grams Morgan E, Hayward Caroline, Schultheiss Ulla T, Krämer Bernhard K, Kronenberg Florian, Peters Annette, Seissler Jochen, Steubl Dominik, Then Cornelia, Wuttke Matthias, März Winfried, Eckardt Kai-Uwe, Gieger Christian, Boerwinkle Eric, Psaty Bruce M, Coresh Josef, Oefner Peter J, Pare Guillaume, Langenberg Claudia, Scherberich Jürgen E, Yu Bing, Akilesh Shreeram, Devuyst Olivier, Rampoldi Luca, Köttgen An |
| Nidogen-1 could play a role in diabetic kidney disease development in type 2 diabetes: a genome-wide association meta-analysis.
Human genomics 2022 10 16 (1): 47. Khattab Ahmed, Torkamani A |
| The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye. Anatolian journal of cardiology 2023 7 . Veysel Oktay, Omaç Tüfekçio?lu, Dilek Çicek Y?lmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balc?o?lu, Mehmet Murat Sucu, Güllü Özdemir, Hakk? Kaya, Mehmet K??, Bar?? Güven, Oktay Ba?dato?lu, Fatma Nihan Turhan Ça?lar, Uygar Ça?da? Yüksel, ?rfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih ?im?ir, ?brahim Ba?ar?c?, Af?in Parspur, Onur Dalg?ç, Fatma Özlem Ar?can Özlük, Mert Evlice, Saim Sa?, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner ?en, Osman Özdabako?lu, Nermin Bayar Çak?c?, Eren Ozan Bak?r, Ay?egül Ülgen Kunak, Gizem Çayl?, Aybike Gül Ta?delen, Ercan Ak?it, ?efika Uslu Çil, Hüseyin On |
| Genome-Wide Association Study of Chronic Kidney Disease Progression. Journal of the American Society of Nephrology : JASN 2023 6 . C Robinson-Cohen, J L Triozzi, B Rowan, J He, H C Chen, N S Zheng, W Q Wei, O D Wilson, J N Hellwege, P S Tsao, J M Gaziano, A Bick, M E Matheny, C P Chung, L Lipworth, E D Siew, T A Ikizler, R Tao, A M Hu |
| Novel insights on GTPBP3-associated hypertrophic cardiomyopathy. American journal of medical genetics. Part A 2023 4 . Angelova Petya, Velchev Vasil, Stoyanov Nikolay, Atemin Slavena, Todorov Tihomir, Tourtourikov Ivan, Mitev Vanyo, Todorova Albe |
| Association of adipocytokine pathway gene polymorphisms with NAFLD in obese children. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2024 8 49 (5): 775-783. Jie Wang, Xiongfeng Pan, Jia Wei, Xiongwei Li, Haixiang Zhou, Ning'an Xu, Rutong Kang, Yan Zhong, Jiayou L |
| PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders. Einstein (Sao Paulo, Brazil) 2024 7 22 eAO0549. Lenises de Paula van der Steld, Mario de Seixas Rocha, Ana Marice Teixeira Ladeia, Humberto Lago Livramento, Gervásio Batista Campos, Francisco Carlos da Costa Darrieux, Oscar Campuzano, Ramon Bruga |
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