Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 38 Records) |
Query Trace: CACNA1S[original query] |
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Whole-genome analysis in Korean patients with autoimmune myasthenia gravis. Yonsei medical journal 2014 May 55 (3): 660-8. Na Sang-Jun, Lee Ji Hyun, Kim So Won, Kim Dae-Seong, Shon Eun Hee, Park Hyung Jun, Shin Ha Young, Kim Seung Min, Choi Young-Ch |
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. Channels (Austin, Tex.) 2015 9 (2): 82-7. Liu Xiao-li, Huang Xiao-jun, Luan Xing-hua, Zhou Hai-yan, Wang Tian, Wang Jing-yi, Chen Sheng-di, Tang Hui-dong, Cao |
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology 2015 May 122 (5): 1033-46. Fiszer Dorota, Shaw Marie-Anne, Fisher Nickla A, Carr Ian M, Gupta Pawan K, Watkins Elizabeth J, Roiz de Sa Daniel, Kim Jerry H, Hopkins Philip |
Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis. Neurology 2016 Mar . Song I-Wen, Sung Chih-Chien, Chen Chien-Hsiun, Cheng Chih-Jen, Yang Sung-Sen, Chou Yi-Chun, Yang Jenn-Hwai, Chen Yuan-Tsong, Wu Jer-Yuarn, Lin Shih-H |
Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: continuing the search for genes associated with malignant hyperthermia. Anaesthesia and intensive care 2016 Nov 44 (6): 762-768. Bjorksten A R, Gillies R L, Hockey B M, Du Sart |
Pathway analysis of bladder cancer genome-wide association study identifies novel pathways involved in bladder cancer development. Genes & cancer 2016 Jul 7 (7-8): 229-239. Chen Meng, Rothman Nathaniel, Ye Yuanqing, Gu Jian, Scheet Paul A, Huang Maosheng, Chang David W, Dinney Colin P, Silverman Debra T, Figueroa Jonine D, Chanock Stephen J, Wu Xife |
High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients. Experimental & molecular medicine 2017 Apr 49 (4): e317. Cho Sung-Yup, Park Changho, Na Deukchae, Han Jee Yun, Lee Jieun, Park Ok-Kyoung, Zhang Chengsheng, Sung Chang Ohk, Moon Hyo Eun, Kim Yona, Kim Jeong Hoon, Kim Jong Jae, Khang Shin Kwang, Nam Do-Hyun, Choi Jung Won, Suh Yeon-Lim, Kim Dong Gyu, Park Sung Hye, Youn Hyewon, Yun Kyuson, Kim Jong-Il, Lee Charles, Paek Sun Ha, Park Hans |
Genetic epidemiology of malignant hyperthermia in the UK. British journal of anaesthesia 2018 9 121 (4): 944-952. Miller D M, Daly C, Aboelsaod E M, Gardner L, Hobson S J, Riasat K, Shepherd S, Robinson R L, Bilmen J G, Gupta P K, Shaw M-A, Hopkins P |
Germline mutations in young non-smoking women with lung adenocarcinoma. Lung cancer (Amsterdam, Netherlands) 2018 7 122 76-82. Donner Iikki, Katainen Riku, Sipilä Lauri J, Aavikko Mervi, Pukkala Eero, Aaltonen Lauri |
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes. Clinical pharmacology and therapeutics 2018 12 105 (6): 1338-1344. Gonsalves Stephen G, Dirksen Robert T, Sangkuhl Katrin, Pulk Rebecca, Alvarellos Maria, Vo Teresa, Hikino Keiko, Roden Dan, Klein Teri E, Poler S Mark, Patel Sephalie, Caudle Kelly E, Gordon Ronald, Brandom Barbara, Biesecker Leslie |
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype. Neurology 2018 1 90 (5): e412-e418. Matthews Emma, Neuwirth Christoph, Jaffer Fatima, Scalco Renata S, Fialho Doreen, Parton Matt, Raja Rayan Dipa, Suetterlin Karen, Sud Richa, Spiegel Roland, Mein Rachel, Houlden Henry, Schaefer Andrew, Healy Estelle, Palace Jacqueline, Quinlivan Ros, Treves Susan, Holton Janice L, Jungbluth Heinz, Hanna Michael |
Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants. Pharmacogenomics 2019 9 20 (14): 989-1003. Sadhasivam Senthilkumar, Brandom Barbara W, Henker Richard A, McAuliffe John |
Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing. BMC neurology 2019 5 19 (1): 92. Luo Sushan, Xu Minjie, Sun Jian, Qiao Kai, Song Jie, Cai Shuang, Zhu Wenhua, Zhou Lei, Xi Jianying, Lu Jiahong, Ni Xiaohua, Dou Tonghai, Zhao Chong |
PharmGKB summary: very important pharmacogene information for CACNA1S. Pharmacogenetics and genomics 2019 12 30 (2): 34-44. Sangkuhl Katrin, Dirksen Robert T, Alvarellos Maria L, Altman Russ B, Klein Teri |
Whole exome sequencing revealed a pathogenic variant in a gene related to malignant hyperthermia in a Vietnamese cardiac surgical patient: A case report. Annals of medicine and surgery (2012) 2019 11 48 88-90. Nguyen Tran-Thuy, Le Ngoc-Thanh, Nguyen Thuy-Mau Thi, Nguyen Huy-Hoang, Nguyen Kim-Lien Thi, Dinh Long Doan, Nguyen The-Binh, Do Anh Tien, Nguyen Cong Huu, Nguyen Trung-Hieu, Pham Hong-Nhung Thi, Vu Thom T |
Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia. Journal of the Formosan Medical Association = Taiwan yi zhi 2020 9 120 (2): 883-892. Yeh Huei-Ming, Liao Min-Hua, Chu Chun-Lin, Lin Yin-Hung, Sun Wei-Zen, Lai Ling-Ping, Chen Pei-Lu |
Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis. Biomedical reports 2020 Oct 13 (4): 24. Bautista-Medina Mario Arturo, Gallardo-Blanco Hugo Leonid, Martinez-Garza Laura Elia, Cerda-Flores Ricardo Martin, Lavalle-Gonzalez Fernando Javier, Villarreal-Perez Jesus Zacari |
Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients. Journal of the neurological sciences 2020 Mar 116795. Nakaza Maki, Kitamura Yuri, Furuta Mitsuru, Kubota Tomoya, Sasaki Ryogen, Takahashi Masanori |
Association between gene polymorphisms of voltage-dependent Ca channels and hypertension in the Dai people of China: a case-control study. BMC medical genetics 2020 Feb 21 (1): 44. Huang Lifan, Chu Yan, Huang Xiaoqin, Ma Shaohui, Lin Keqin, Huang Kai, Sun Hao, Yang Zhaoqi |
Investigating the genetic susceptibility to exertional heat illness. Journal of medical genetics 2020 Feb . Gardner Lois, Miller Dorota M, Daly Catherine, Gupta Pawan K, House Carol, Roiz de Sa Daniel, Shaw Marie-Anne, Hopkins Philip |
Immunogenomic profiling and pathological response results from a clinical trial of docetaxel and carboplatin in triple-negative breast cancer. Breast cancer research and treatment 2021 6 189 (1): 187-202. Ademuyiwa Foluso O, Chen Ina, Luo Jingqin, Rimawi Mothaffar F, Hagemann Ian S, Fisk Bryan, Jeffers Gejae, Skidmore Zachary L, Basu Anamika, Richters Megan, Ma Cynthia X, Weilbaecher Katherine, Davis Jennifer, Suresh Rama, Peterson Lindsay L, Bose Ron, Bagegni Nusayba, Rigden Caron E, Frith Ashley, Rearden Timothy P, Hernandez-Aya Leonel F, Roshal Anna, Clifton Katherine, Opyrchal Mateusz, Akintola-Ogunremi Olaronke, Lee Byung Ha, Ferrando-Martinez Sara, Church Sarah E, Anurag Meenakshi, Ellis Matthew J, Gao Feng, Gillanders William, Griffith Obi L, Griffith Malac |
Variants in BANK1 are associated with lupus nephritis of European ancestry.
Genes and immunity 2021 Jun . Bolin Karin, Imgenberg-Kreuz Juliana, Leonard Dag, Sandling Johanna K, Alexsson Andrei, Pucholt Pascal, Haarhaus Malena Loberg, Almlöf Jonas Carlsson, Nititham Joanne, Jönsen Andreas, Sjöwall Christopher, Bengtsson Anders A, Rantapää-Dahlqvist Solbritt, Svenungsson Elisabet, Gunnarsson Iva, Syvänen Ann-Christine, Lerang Karoline, Troldborg Anne, Voss Anne, Molberg Øyvind, Jacobsen Søren, Criswell Lindsey, Rönnblom Lars, Nordmark Gunn |
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance. Scientific reports 2021 2 11 (1): 3445. Hoppe Kerstin, Jurkat-Rott Karin, Kranepuhl Stefanie, Wearing Scott, Heiderich Sebastian, Merlak Sonja, Klingler Wern |
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients. Journal of personalized medicine 2022 Aug 12 (8): . Hutchcraft Megan Leigh, Zhang Shulin, Lin Nan, Gottschalk Ginny Lee, Keck James W, Belcher Elizabeth A, Sears Catherine, Wang Chi, Liu Kun, Dietz Lauren E, Pickarski Justine C, Wei Sainan, Cardarelli Roberto, DiPaola Robert S, Kolesar Jill |
Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. Medicine 2022 7 101 (29): e29591. Meng Yan-Xin, Yu Mei, Liu Chunmiao, Zhang Haijuan, Yang Yuxiu, Zhang Ji |
Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. BMC genomics 2022 May 23 (1): 385. Feng Yen-Chen A, Stanaway Ian B, Connolly John J, Denny Joshua C, Luo Yuan, Weng Chunhua, Wei Wei-Qi, Weiss Scott T, Karlson Elizabeth W, Smoller Jordan |
Pharmacogenomic Study of Statin-Associated Muscle Symptoms in the ODYSSEY OUTCOMES Trial.
Circulation. Genomic and precision medicine 2022 May 101161CIRCGEN121003503. Murphy William A, Lin Nan, Damask Amy, Schwartz Gregory G, Steg P Gabriel, Szarek Michael, Banerjee Poulabi, Fazio Sergio, Manvelian Garen, Pordy Robert, Shuldiner Alan R, Paulding Charl |
Cholinergic Synapse Pathway Gene Polymorphisms Associated With Late-Phase Responses in Allergic Rhinitis. Frontiers in allergy 2022 4 2 724328. Samra Simranjit K, Rajasekaran Ashwini, Sandford Andrew J, Ellis Anne K, Tebbutt Scott |
Identification of ultra-rare disruptive variants in voltage-gated calcium channel-encoding genes in Japanese samples of schizophrenia and autism spectrum disorder. Translational psychiatry 2022 2 12 (1): 84. Wang Chenyao, Horigane Shin-Ichiro, Wakamori Minoru, Ueda Shuhei, Kawabata Takeshi, Fujii Hajime, Kushima Itaru, Kimura Hiroki, Ishizuka Kanako, Nakamura Yukako, Iwayama Yoshimi, Ikeda Masashi, Iwata Nakao, Okada Takashi, Aleksic Branko, Mori Daisuke, Yoshida Takashi, Bito Haruhiko, Yoshikawa Takeo, Takemoto-Kimura Sayaka, Ozaki Nor |
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients. Orphanet journal of rare diseases 2024 4 19 (1): 160. Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren, Xiangdong Ko |
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- Page last updated:Apr 22, 2024
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