Results 41 to 50 of about 6,365 (192)
Overexpression of KCNJ2 in induced pluripotent stem cell-derived cardiomyocytes for the assessment of QT-prolonging drugs
Journal of Pharmacological Sciences, 2017 Human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes hold great potentials to predict pro-arrhythmic risks in preclinical cardiac safety screening, although the hiPSC cardiomyocytes exhibit rather immature functional and structural ...Min Li, Yasunari Kanda, Takashi Ashihara, Tetsuo Sasano, Yuji Nakai, Masami Kodama, Erina Hayashi, Yuko Sekino, Tetsushi Furukawa, Junko Kurokawa +9 moredoaj +1 more sourcePierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 [PDF]
Journal of Medical Genetics, 2007 Background: The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes—for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations—but the aetiology of non-syndromic PRS has not yet been unravelled. Jakobsen, L.P., Ullmann, R., Christensen, S.B., Jensen, K.E., Molsted, K., Henriksen, K.F., Hansen, C., Knudsen, Mads Andreas Faurschou, Larsen, L.A., Tommerup, Niels, Tümer, Asuman Zeynep +10 moreopenaire +3 more sourcesPotassium channel gene mutations rarely cause atrial fibrillation
BMC Medical Genetics, 2006 Background Mutations in several potassium channel subunits have been associated with rare forms of atrial fibrillation. In order to explore the role of potassium channels in inherited typical forms of the arrhythmia, we have screened a cohort of patients Nam Edwin G, Zakharova Elena, Petrov-Kondratov Vadim I, Ellinor Patrick T, MacRae Calum A +4 moredoaj +1 more sourceImpact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]
, 2020 Aims
The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin +44 morecore +1 more sourceGenome-wide association analysis identifies six new loci associated with forced vital capacity [PDF]
, 2014 Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and ...A Bill Musk, A Hofman, A Rosendahl, A Sountoulidis, Adaikalavan Ramasamy, Akshay Sood, AL Dixon, Alan F Wright, Alan L James, Alanna C Morrison, Albert Hofman, Albert Vernon Smith, Alexander Teumer, Alexessander Couto Alves, Alicja R Rudnicka, Ana Viñuela, Andrew P Morris, André G Uitterlinden, Ani Manichaikul, Anne Newman, Anne Viljanen, Anneli Pouta, AP Boyle, AS Dimas, AT Kho, B Devlin, B Gombojav, B Servin, Beate Koch, Bharat Thyagarajan, BL Browning, Blair H Smith, Bonnie R Joubert, Bruce M Psaty, Bruno H Stricker, Caroline Hayward, CE Elks, Chris Oldmeadow, Christian Gieger, Christopher J Hammond, Cisca Wijmenga, CJ Willer, CJ Zappala, Claudia Flexeder, CM Lindgren, CS Carlson, Daan W Loth, Dana B Hancock, David Couper, David J Lederer, David J Porteous, David P Strachan, DB Hancock, DB Hancock, Deborah L Jarvis, Dirkje S Postma, DJ Gottlieb, DR Nyholt, E Hodge, E Melén, E Repapi, EE Eichler, Elizabeth G Holliday, Erik Ingelsson, Erik Melén, Ernst Omenaas, Esteban G Burchard, Eva Albrecht, F Ashley, Fernando Rivadeneira, Fien M Verhamme, G Lettre, G Raghu, Gail Davies, Generation Scotland, George T O'Connor, Gudny Eiriksdottir, Guo Li, Guy G Brusselle, H Lango Allen, H Marike Boezen, H Takizawa, Harald Grallert, Harry Campbell, Henry Völzke, HJ Westra, HM Lee, Holger Schulz, Holly Trochet, Ian J Deary, Ian P Hall, Ian Sayers, Ida Surakka, Igor Rudan, Isabelle Pin, Ivana Kolcic, J Li, J Marchini, J Sung, J Sung, J Yang, Jaakko Kaprio, James F Wilson, JB Wilk, JB Wilk, Jemma B Wilk, Jennie Hui, Jennifer E Huffman, Jerome I Rotter, JH Park, Jing Hua Zhao, JM Cheverud, Joachim Heinrich, John Beilby, John M Starr, John R Attia, Joohon Sung, Josée Dupuis, Joyce B J van Meurs, JR Gibbs, Judith M Vonk, Juha Pekkanen, K Musunuru, K Zhang, Kari E North, Ken R Bracke, Kim de Jong, Kirsi H Pietiläinen, Kristin M Burkart, Kurt Lohman, Lars Lind, Laura R Loehr, Lenore J Launer, Leslie A Lange, Lewis J Smith, Lies Lahousse, Lina Zgaga, LJ Palmer, Lorna M Lopez, Louise V Wain, M Kimura, M Soler Artigas, M Uhlen, Marcy F Petrini, Marjo-Riitta Jarvelin, Marjolein J Peters, Markku Heliövaara, Martin D Tobin, Mary Wojczynski, María Soler Artigas, Matthias Wjst, Melissa Garcia, Mi Kyeong Lee, Mika Kähönen, Myriam Fornage, N van Putte-Katier, Nadia Hansel, Nathan C Gaddis, Nicholas D Hastie, Nicholas J Wareham, Nora Franceschini, O Dale Williams, Ozren Polasek, P Lange, Patricia A Cassano, Pau Navarro, Peter K Joshi, PG Burney, Pieter S Hiemstra, Pirro G Hysi, PJ McLaughlin, Qing Duan, R Graham Barr, Rajesh Kumar, Regina Hampel, Robert A Scott, Rodney J Scott, Ryan L Minster, Samuli Ripatti, Sarah H Wild, Sina A Gharib, SR Browning, ST Weiss, Stefan Enroth, Stefan Karrasch, Stephanie J London, Stephen B Kritchevsky, Stephen S Rich, Susan Campbell, Susan R Heckbert, Susan Redline, Sven Gläser, Taina Rantanen, Tamara B Harris, Tatijana Zemunik, Tess D Pottinger, Thomas Lumley, Thor Aspelund, Timothy D Spector, Tove Fall, Ulf Gyllensten, Veronique Vitart, Vilmundur Gudnason, WB Kannel, Wei Gao, Wenbo Tang, Wendy B White, Wendy L McArdle, WI de Boer, Woo Jin Kim, Xiangjun Gu, Xin-Qun Wang, Y Li, Yeon-Mok Oh, Yongmei Liu, YS Cho, Åsa Johansson +216 morecore +4 more sourcesMutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly [PDF]
, 2016 Background: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype Anne Debant, Ba, Barbelanne, Bellanger, Bragin, Briançon-Marjollet, Cannet, Catherine Mercer, Chhatriwala, Christine Fagotto-Kaufmann, David Goudie, de Ligt, DeLano, Dent, Dent, Deo, Diana Baralle, Eleanor G Seaby, Estrach, Etienne-Manneville, Govek, Grix, Hu, Huber, M Reza Jabalameli, Ma, McLaren, McPherson, Mercer, Michael J Parker, O'Brien, Peng, Pengelly, Pengelly, Portales-Casamar, Reuben J Pengelly, Robinson, Sarah Ennis, Sarju G Mehta, Schmidt, Skowronek, Stephanie Greville-Heygate, Susanne Schmidt, van Bokhoven, van Haren, Zong +45 morecore +5 more sourcesNovel KCNJ2 Mutation in Familial Periodic Paralysis With Ventricular Dysrhythmia [PDF]
Circulation, 2002 Background — Mutations in the KCNJ2 gene, which codes cardiac and skeletal inward rectifying K + channels (Kir2.1), produce Andersen’s syndrome, which is characterized Tomohiko, Ai, Yuichiro, Fujiwara, Keiko, Tsuji, Hideo, Otani, Shozo, Nakano, Yoshihiro, Kubo, Minoru, Horie +6 moreopenaire +2 more sourcesAltered microRNA and target gene expression related to Tetralogy of Fallot [PDF]
, 2019 MicroRNAs (miRNAs) play an important role in guiding development and maintaining function of the human heart. Dysregulation of miRNAs has been linked to various congenital heart diseases including Tetralogy of Fallot (TOF), which represents the most ...Appelt, Sandra, Berger, Felix, Dunkel, Ilona, Grunert, Marcel, Sperling, Silke R. +4 morecore +2 more sourcesModelling the effects of chloroquine onKCNJ2-linked short QT syndrome
Oncotarget, 2017 A gain-of-function KCNJ2 D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death. Anti-malarial drug chloroquine was reported as an effective inhibitor of Kir2.1 channels. Using biophysically-detailed human ventricle computer models,Luo, Cunjin, Wang, Kuanquan, Zhang, Henggui +2 moreopenaire +6 more sources
