Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 47 Records) |
| Query Trace: Disease and RFC1[original query] |
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| A single nucleotide polymorphism of reduced folate carrier 1 predicts methotrexate efficacy in Japanese patients with rheumatoid arthritis. Drug metabolism and pharmacokinetics 2013 28 (2): 164-8. Hayashi Hideki, Tazoe Yui, Tsuboi Seiji, Horino Masato, Morishita Mariko, Arai Teruhisa, Ohshima Motohiro, Matsuyama Taiji, Kosuge Kazuhiro, Yamada Hiroshi, Tsuji Daiki, Inoue Kazuyuki, Itoh Kunihi |
| Polymorphism G80A in the reduced folate carrier gene and its relationship to survival and risk of relapse in acute lymphoblastic leukemia. Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2012 Oct 60 (7): 1064-7. Leyva-Vázquez Marco Antonio, Organista-Nava Jorge, Gómez-Gómez Yazmín, Contreras-Quiroz Adriana, Flores-Alfaro Eugenia, Illades-Aguiar Bereni |
| Pharmacogenetic polymorphisms contributing to toxicity induced by methotrexate in the southern Spanish population with rheumatoid arthritis. Omics : a journal of integrative biology 2012 Nov 16 (11): 589-95. Plaza-Plaza José Cristian, Aguilera Margarita, Cañadas-Garre Marisa, Chemello Clarice, González-Utrilla Alfonso, Faus Dader María José, Calleja Miguel Ang |
| Association of SNPs in genes involved in folate metabolism with the risk of congenital heart disease. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2013 Dec 26 (18): 1768-77. Wang Benjing, Liu Minjuan, Yan Wenhua, Mao Jun, Jiang Dong, Li Hong, Chen Yi |
| Role of methotrexate polyglutamation and reduced folate carrier 1 (RFC1) gene polymorphisms in clinical assessment indexes. Drug metabolism and pharmacokinetics 2013 28 (5): 442-5. Ando Yukie, Shimada Hideaki, Matsumoto Nozomi, Hirota Takeshi, Oribe Motohiro, Otsuka Eiji, Ishii Kohji, Morimoto Takuya, Ohashi Kyoichi, Ieiri Ichi |
| [Personalized drug therapy-directed clinical pharmacology research based on genetic polymorphisms and pharmacokinetics analysis]. Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan 2013 133 (10): 1079-85. Hayashi Hide |
| Association of MDR1 C3435T and RFC1 G80A polymorphisms with methotrexate toxicity and response in Jordanian rheumatoid arthritis patients. International journal of clinical pharmacology and therapeutics 2014 Sep 52 (9): 746-55. Samara Sima A, Irshaid Yacoub M, Mustafa Khader |
| RFC1 and non-syndromic cleft lip with or without cleft palate: an association based study in Italy. Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 2014 Oct 42 (7): 1503-5. Girardi Ambra, Martinelli Marcella, Cura Francesca, Palmieri Annalisa, Carinci Francesco, Sesenna Enrico, Scapoli Lu |
| Association of seven functional polymorphisms of one-carbon metabolic pathway with total plasma homocysteine levels and susceptibility to Parkinson's disease among South Indians. Neuroscience letters 2014 May 568 1-5. Kumudini Nadella, Uma Addepally, Naushad Shaik Mohammad, Mridula Rukmini, Borgohain Rupam, Kutala Vijay Kum |
| Serum folic acid and RFC A80G polymorphism in Alzheimer's disease and vascular dementia. American journal of Alzheimer's disease and other dementias 2014 Feb 29 (1): 38-44. Mansoori Nasim, Tripathi Manjari, Alam Rizwan, Luthra Kalpana, Sharma Sumit, Lakshmy Ramakrishnan, Kalaivani Mani, Mukhopadhyay Asok |
| Multifactor dimensionality reduction analysis to elucidate the cross-talk between one-carbon and xenobiotic metabolic pathways in multi-disease models. Molecular biology reports 2015 Jul 42 (7): 1211-24. Naushad Shaik Mohammad, Vijayalakshmi Sana Venkata, Rupasree Yedluri, Kumudini Nadella, Sowganthika Sampathkumar, Naidu Janardhanan Venketlakshmi, Ramaiah M Janaki, Rao Dunna Nageswara, Kutala Vijay Kum |
| Preliminary study for predicting better methotrexate efficacy in Japanese patients with rheumatoid arthritis. Journal of pharmaceutical health care and sciences 2016 2 13. Hashiguchi Masayuki, Tsuru Tomomi, Miyawaki Kumika, Suzaki Midori, Hakamata Jun, Shimizu Mikiko, Irie Shin, Mochizuki Mayu |
| Influence of chemotherapeutic drug-related gene polymorphisms on toxicity and survival of early breast cancer patients receiving adjuvant chemotherapy. BMC cancer 2017 Jul 17 (1): 502. Ludovini Vienna, Antognelli Cinzia, Rulli Antonio, Foglietta Jennifer, Pistola Lorenza, Eliana Rulli, Floriani Irene, Nocentini Giuseppe, Tofanetti Francesca Romana, Piattoni Simonetta, Minenza Elisa, Talesa Vincenzo Nicola, Sidoni Angelo, Tonato Maurizio, Crinò Lucio, Gori Stefan |
| MTRR A66G, RFC1 G80A, and MTHFR C677T and A1298C Polymorphisms and Disease Activity in Mexicans with Rheumatoid Arthritis Treated with Methotrexate. Genetic testing and molecular biomarkers 2017 Oct . González-Mercado Mirna Gisel, Rivas Fernando, Gallegos-Arreola M Patricia, Morán-Moguel M Cristina, Salazar-Páramo Mario, González-López Laura, Gámez-Nava J Iván, Muñoz-Valle J Francisco, Medina-Coss Y León Ricardo, González-Mercado Anahí, Aceves Mario A, Dávalos Nory O, Macías-Chumacera Agustín, Dávalos Ingrid |
| A M?ori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. Brain : a journal of neurology 2020 8 143 (9): 2673-2680. Beecroft Sarah J, Cortese Andrea, Sullivan Roisin, Yau Wai Yan, Dyer Zoe, Wu Teddy Y, Mulroy Eoin, Pelosi Luciana, Rodrigues Miriam, Taylor Rachael, Mossman Stuart, Leadbetter Ruth, Cleland James, Anderson Tim, Ravenscroft Gianina, Laing Nigel G, Houlden Henry, Reilly Mary M, Roxburgh Richard |
| RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia. Journal of human genetics 2020 Jul . Tsuchiya Mai, Nan Haitian, Koh Kishin, Ichinose Yuta, Gao Lihua, Shimozono Keisuke, Hata Takanori, Kim Yeon-Jeong, Ohtsuka Toshihisa, Cortese Andrea, Takiyama Yoshihi |
| [CANVAS: case report on a novel repeat expansion disorder with late-onset ataxia]. Der Nervenarzt 2020 5 91 (6): 537-540. Meindl Tobias, Cordts Isabell, Scherzer Anna-Lisa, Lingor Paul, Maegerlein Christian, Galassi Deforie Valentina, Dominik Natalia, Houlden Henry, Cortese Andrea, Deschauer Marc |
| The Roles of Reduced Folate Carrier-1 (RFC1) A80G (rs1051266) Polymorphism in Congenital Heart Disease: A Meta-Analysis. Medical science monitor : international medical journal of experimental and clinical research 2021 5 27 e929911. Yi Kang, Ma Yu-Hu, Wang Wei, Zhang Xin, Gao Jie, He Shao-E, Xu Xiao-Min, Ji Meng, Guo Wen-Fen, You T |
| Association of maternal folate use and reduced folate carrier gene polymorphisms with the risk of congenital heart disease in offspring. European journal of pediatrics 2021 Apr . Qin Jiabi, Li Jinqi, Li Fang, Sun Mengting, Wang Tingting, Diao Jingyi, Zhang Senmao, Luo Liu, Li Yihuan, Chen Letao, Huang Peng, Zhu Pi |
| Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome. Brain : a journal of neurology 2022 3 145 (3): 1139-1150. Miyatake Satoko, Yoshida Kunihiro, Koshimizu Eriko, Doi Hiroshi, Yamada Mitsunori, Miyaji Yosuke, Ueda Naohisa, Tsuyuzaki Jun, Kodaira Minori, Onoue Hiroyuki, Taguri Masataka, Imamura Shintaro, Fukuda Hiromi, Hamanaka Kohei, Fujita Atsushi, Satoh Mai, Miyama Takabumi, Watanabe Nobuko, Kurita Yusuke, Okubo Masaki, Tanaka Kenichi, Kishida Hitaru, Koyano Shigeru, Takahashi Tatsuya, Ono Yoya, Higashida Kazuhiro, Yoshikura Nobuaki, Ogata Katsuhisa, Kato Rumiko, Tsuchida Naomi, Uchiyama Yuri, Miyake Noriko, Shimohata Takayoshi, Tanaka Fumiaki, Mizuguchi Takeshi, Matsumoto Naomic |
| RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics. Brain communications 2023 8 5 (4): fcad208. Carolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, Roula Ghaoui, Darshan Ghia, Robert D Henderson, Nerissa Jordan, Antony Winkel, Phillipa J Lamont, Miriam J Rodrigues, Richard H Roxburgh, Ben Weisburd, Nigel G Laing, Ira W Deveson, Mark R Davis, Gianina Ravenscro |
| Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia. European journal of neurology 2023 8 . Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albajar, Elisabet Mondragón, Ana Vinagre, Roberto Fernández-Torrón, Fermín Moreno, Jon Equiza, David Campo-Caballero, Juan José Poza, Marta Ruibal, Alessandro Formica, Marie-Josée Dicaire, Matt C Danzi, Stephan Zuchner, Ioana Croitoru, Montserrat Ruiz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munain, Javier Ruiz-Martín |
| Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. Journal of neurology, neurosurgery, and psychiatry 2023 7 . David Pellerin, Carlo Wilke, Andreas Traschütz, Sara Nagy, Riccardo Currò, Marie-Josée Dicaire, Hector Garcia-Moreno, Mathieu Anheim, Thomas Wirth, Jennifer Faber, Dagmar Timmann, Christel Depienne, Dan Rujescu, José Gazulla, Mary M Reilly, Paola Giunti, Bernard Brais, Henry Houlden, Ludger Schöls, Michael Strupp, Andrea Cortese, Matthis Synofz |
| Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum. Movement disorders : official journal of the Movement Disorder Society 2023 12 . Ilaria Quartesan, Elisa Vegezzi, Riccardo Currò, Amanda Heslegrave, Chiara Pisciotta, Pablo Iruzubieta, Alessandro Salvalaggio, Gorka Fernande-Eulate, Natalia Dominik, Bianca Rugginini, Arianna Manini, Elena Abati, Stefano Facchini, Katarina Manso, Ines Albajar, Rhiannon Laban, Alexander M Rossor, Anna Pichiecchio, Giuseppe Cosentino, Paola Saveri, Ettore Salsano, Francesca Andreetta, Enza M Valente, Henrik Zetterberg, Paola Giunti, Tanya Stojkovic, Chiara Briani, Adolfo López de Munain, Davide Pareyson, Mary M Reilly, Henry Houlden, Cristina Tassorelli, Andrea Corte |
| Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort. Neurogenetics 2023 11 . Nishu Tyagi, Bharathram Uppili, Pooja Sharma, Shaista Parveen, Sheeba Saifi, Abhinav Jain, Akhilesh Sonakar, Istaq Ahmed, Shweta Sahni, Uzma Shamim, Avni Anand, Varun Suroliya, Vivekanand Asokachandran, Achal Srivastava, Sridhar Sivasubbu, Vinod Scaria, Mohammed Far |
| Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis. European journal of neurology 2024 8 e16441. Xu-Ying Li, Hong Lai, Xian Li, Fanxi Xu, Yang Song, Zhanjun Wang, Qibin Li, Ruichai Lin, Zhiheng Xu, Chaodong Wa |
| Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease. Journal of neurology 2024 6 . Annalisa Schaub, Hannes Erdmann, Veronika Scholz, Manuela Timmer, Isabell Cordts, Rene Günther, Peter Reilich, Angela Abicht, Florian Schöbe |
| Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1). Archivos de bronconeumologia 2024 5 . Esther Palones, Vicente Plaza, Lidia Gonzalez-Quereda, Alba Segarra-Casas, Luis Querol, Federico Bertoletti, María José Rodriguez, Pía Gallano, Astrid Crespo-Lessma |
| RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls. Neurology. Genetics 2024 4 10 (3): e200149. Christina Votsi, Marios Tomazou, Paschalis Nicolaou, Marios C Pantzaris, Giorgos Pitsas, Archontia Adamou, Kleopas A Kleopa, Eleni Zamba-Papanicolaou, Kyproula Christodoul |
| Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otter. Genome research 2024 10 . Niccolo Tesi, Alex Salazar, Yaran Zhang, Sven van der Lee, Marc Hulsman, Lydian Knoop, Sanduni Wijesekera, Jana Krizova, Anne-Fleur Schneider, Maartje Pennings, Kristel Sleegers, Erik-Jan Kamsteeg, Marcel Reinders, Henne Holste |
- Page last reviewed:Feb 1, 2024
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