Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 80 Records) |
Query Trace: SLC22A5[original query] |
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Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. European journal of medical genetics 2014 Oct 57 (10): 571-5. Han Lianshu, Wang Fei, Wang Yu, Ye Jun, Qiu Wenjuan, Zhang Huiwen, Gao Xiaolan, Gong Zhuwen, Gu Xuef |
Metabolic heritability at birth: implications for chronic disease research. Human genetics 2014 Aug 133 (8): 1049-57. Ryckman Kelli K, Smith Caitlin J, Jelliffe-Pawlowski Laura L, Momany Allison M, Berberich Stanton L, Murray Jeffrey |
Organic cation/carnitine transporter OCTN2 (SLC22A5) -207C>G (rs2631367) polymorphism is not associated with male infertility. Reproductive biology 2015 Sep 15 (3): 178-83. Dro?dzik Marek, Oronowicz Katarzyna, Piasecka Malgorzata, Kazienko Anna, Rosiak Aleksandra, Gill Kamil, Dziedziejko Violetta, Safranow Krzysztof, Kurzawa Rafa?, Kurzawski Mateu |
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency. JIMD reports 2015 23 67-70. Aksglaede Lise, Christensen Mette, Olesen Jess H, Duno Morten, Olsen Rikke K J, Andresen Brage S, Hougaard David M, Lund Allan |
Integrative analysis of mutational and transcriptional profiles reveals driver mutations of metastatic breast cancers. Cell discovery 2016 2 16025. Lee Ji-Hyun, Zhao Xing-Ming, Yoon Ina, Lee Jin Young, Kwon Nam Hoon, Wang Yin-Ying, Lee Kyung-Min, Lee Min-Joo, Kim Jisun, Moon Hyeong-Gon, In Yongho, Hao Jin-Kao, Park Kyung-Mii, Noh Dong-Young, Han Wonshik, Kim Sungho |
Single Nucleotide Polymorphisms in MORC4, CD14, and TLR4 Are Related to Outcome of Allogeneic Stem Cell Transplantation. Annals of transplantation : quarterly of the Polish Transplantation Society 2016 21 56-67. Norén Elisabeth, Verma Deepti, Söderkvist Peter, Weisselberg Tilman, Söderman Jan, Lotfi Kourosh, Almer Sv |
Functional and molecular studies in primary carnitine deficiency. Human mutation 2017 8 38 (12): 1684-1699. Frigeni Marta, Balakrishnan Bijina, Yin Xue, Calderon Fernanda R O, Mao Rong, Pasquali Marzia, Longo Nico |
Imatinib-induced ophthalmological side-effects in GIST patients are associated with the variations of EGFR, SLC22A1, SLC22A5 and ABCB1. The pharmacogenomics journal 2017 Aug . Qiu H-B, Zhuang W, Wu T, Xin S, Lin C-Z, Ruan H-L, Zhu X, Huang M, Li J-L, Hou X-Y, Zhou Z-W, Wang X |
Genotypes of SLC22A4 and SLC22A5 regulatory loci are predictive of the response of chronic myeloid leukemia patients to imatinib treatment. Journal of experimental & clinical cancer research : CR 2017 Apr 36 (1): 55. Jaruskova Monika, Curik Nikola, Hercog Rajna, Polivkova Vaclava, Motlova Eliska, Benes Vladimir, Klamova Hana, Pecherkova Pavla, Belohlavkova Petra, Vrbacky Filip, Machova Polakova Kateri |
Genetic polymorphisms as predictive biomarker of survival in patients with gastrointestinal stromal tumors treated with sunitinib. The pharmacogenomics journal 2017 Jan . Kloth J S L, Verboom M C, Swen J J, van der Straaten T, Sleijfer S, Reyners A K L, Steeghs N, Gelderblom H, Guchelaar H J, Mathijssen R H |
Carnitine levels and mutations in the SLC22A5 gene in Faroes patients with Parkinson's disease. Neuroscience letters 2018 4 675 116-119. Crooks Súsanna A, Bech Sára, Halling Jónrit, Christiansen Debes H, Ritz Beate, Petersen Maria Skaal |
Integrative expression quantitative trait locus-based analysis of colorectal cancer identified a functional polymorphism regulating SLC22A5 expression. European journal of cancer (Oxford, England : 1990) 2018 Feb 93 1-9. Zou Danyi, Lou Jiao, Ke Juntao, Mei Shufang, Li Jiaoyuan, Gong Yajie, Yang Yang, Zhu Ying, Tian Jianbo, Chang Jiang, Zhong Rong, Gong Jing, Miao Xiaopi |
SLC22A5 polymorphism associated with risk of extra-articular manifestations in rheumatoid arthritis patients. Reumatologia 2019 57 (1): 3-7. Pawlik Andrzej, Paradowska-Gorycka Agnieszka, Safranow Krzysztof, Dziedziejko Violetta, Dutkiewicz Gra?yna, S?ucznowska-G?abowska Sylwia, Juzyszyn Zygmunt, Drozdzik Mar |
Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population. Frontiers in genetics 2019 11 10 1052. Wang Ting, Ma Jun, Zhang Qin, Gao Ang, Wang Qi, Li Hong, Xiang Jingjing, Wang Benji |
Tooth loss and adiposity: possible role of carnitine transporter (OCTN1/2) polymorphisms in women but not in men. Clinical oral investigations 2020 9 25 (2): 701-709. Meisel Peter, Pagels Stefanie, Grube Markus, Jedlitschky Gabriele, Völzke Henry, Kocher Thom |
Effects of Trough Concentration and Solute Carrier Polymorphisms on Imatinib Efficacy in Chinese Patients with Chronic Myeloid Leukemia. Journal of pharmacy & pharmaceutical sciences : a publication of the Canadian Society for Pharmaceutical Sciences, Societe canadienne des sciences pharmaceutiques 2020 23 (1): 1-9. Wang Qing, Jiang Zhi-Ping, Zeng Jing, Zhu Yan, Cai Hua-Lin, Xiang Da-Xiong, He Qun, Shi Xiao-Liu, Zhong An-Ni, Zhao Xie-Lan, Xu Pi |
A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease.
Scientific reports 2020 Feb 10 (1): 1862. González-Serna David, Ochoa Eguzkine, López-Isac Elena, Julià Antonio, Degenhardt Frauke, Ortego-Centeno Norberto, Radstake Timothy R D J, Franke Andre, Marsal Sara, Mayes Maureen D, Martín Javier, Márquez Ana, |
Biochemical and genetic characteristics of 40 neonates with carnitine deficiency. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2020 Oct 45 (10): 1164-1171. Zhou Xiaoqiang, Teng Yanling, Lin-Peng Siyuan, Li Zhuo, Wu Lingqian, Liang Deshe |
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population. Frontiers in genetics 2021 8 12 631688. Tan Jianqiang, Chen Dayu, Chang Rongni, Pan Lizhen, Yang Jinling, Yuan Dejian, Huang Lihua, Yan Tizhen, Ning Haiping, Wei Jiangyan, Cai R |
Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China. Frontiers in genetics 2021 7 12 686137. Yang Xiangchun, Li Qiong, Wang Fei, Yan Lulu, Zhuang Danyan, Qiu Haiyan, Li Haibo, Chen Lia |
Increased detection of primary carnitine deficiency through second-tier newborn genetic screening. Orphanet journal of rare diseases 2021 3 16 (1): 149. Lin Yiming, Zhang Weifeng, Huang Chenggang, Lin Chunmei, Lin Weihua, Peng Weilin, Fu Qingliu, Chen Dongm |
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening. Orphanet journal of rare diseases 2021 12 16 (1): 503. Lin Yiming, Lin Bangbang, Chen Yanru, Zheng Zhenzhu, Fu Qingliu, Lin Weihua, Zhang Weife |
Genetic Variants of ABC and SLC Transporter Genes and Chronic Myeloid Leukaemia: Impact on Susceptibility and Prognosis. International journal of molecular sciences 2022 9 23 (17): . Alves Raquel, Gonçalves Ana Cristina, Jorge Joana, Marques Gilberto, Ribeiro André B, Tenreiro Rita, Coucelo Margarida, Diamond Joana, Oliveiros Bárbara, Pereira Amélia, Freitas-Tavares Paulo, Almeida António M, Sarmento-Ribeiro Ana Be |
[Differential diagnosis of a Chinese pedigree with methylmalonic acidemia by next-generation sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 7 39 (7): 694-697. Zhao Ganye, Chen Chen, Zhao Xuechao, Liu Lina, Wang Conghui, Kong Xiangdo |
Acylcarnitines and Genetic Variation in Fat Oxidation Genes in HIV-infected, Antiretroviral-treated Children With and Without Myopathy. The Pediatric infectious disease journal 2022 May . Kirmse Brian, Hobbs Charlotte, Aaron Lisa, Montepiedra Grace, Summar Marshall, Williams Paige L, Smith Caitlin J, Van Dyke Russell, Yu Chunli, Ryckman Kelli K, Borkowsky William, |
Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China. Frontiers in genetics 2022 12 13 1062715. Chang Siyu, Yang Yi, Xu Feng, Ji Wenjun, Zhan Xia, Gao Xiaolan, Chen Ting, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Lu Deyun, Zhang Kaichuang, Gu Xuefan, Han Lians |
Pharmacogenetic Variation and Its Clinical Relevance in a Latin American Rural Population. International journal of molecular sciences 2022 Oct 23 (19): . Olloquequi Jordi, Castro-Santos Patricia, Díaz-Peña Rober |
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening. Frontiers in genetics 2023 12 14 1304458. Xiaoshan Ji, Yanzhuang Ge, Qi Ni, Suhua Xu, Zhongmeng Xiong, Lin Yang, Liyuan Hu, Yun Cao, Yulan Lu, Qiufen Wei, Wenqing Kang, Deyi Zhuang, Wenhao Zhou, Xinran Do |
Newborn screening for fatty acid oxidation disorders in a southern Chinese population. Heliyon 2024 1 10 (1): e23671. Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Pe |
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- Page last updated:Apr 22, 2024
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