Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 36 Records) |
| Query Trace: Disease and CTD[original query] |
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| Significant association between CYP3A5 polymorphism and blood concentration of tacrolimus in patients with connective tissue diseases. Journal of human genetics 2014 Feb 59 (2): 107-9. Tanaka Kosuke, Terao Chikashi, Ohmura Koichiro, Takahashi Meiko, Nakashima Ran, Imura Yoshitaka, Yoshifuji Hajime, Yukawa Naoichiro, Usui Takashi, Fujii Takao, Mimori Tsuneyo, Matsuda Fumihi |
| High-resolution HLA analysis of primary and secondary Sjögren's syndrome: a common immunogenetic background in Mexican patients. Rheumatology international 2015 Apr 35 (4): 643-9. Hernández-Molina Gabriela, Vargas-Alarcón Gilberto, Rodríguez-Pérez Jose M, Martínez-Rodríguez Nancy, Lima Guadalupe, Sánchez-Guerrero Jor |
| Novel missense variants of ZFPM2/FOG2 identified in conotruncal heart defect patients do not impair interaction with GATA4. PloS one 2014 9 (7): e102379. Zhang Wenwen, Shen Li, Deng Zhantao, Ding Yibing, Mo Xuming, Xu Zhengfeng, Gao Qian, Yi Lo |
| Effect of CYP3A5 and ABCB1 polymorphisms on the interaction between tacrolimus and itraconazole in patients with connective tissue disease. European journal of clinical pharmacology 2015 Sep 71 (9): 1091-7. Togashi Masaru, Niioka Takenori, Komatsuda Atsushi, Nara Mizuho, Okuyama Shin, Omokawa Ayumi, Abumiya Maiko, Wakui Hideki, Takahashi Naoto, Miura Masato |
| A meta-analysis examining the association between the MUC5B rs35705950 T/G polymorphism and susceptibility to idiopathic pulmonary fibrosis. Inflammation research : official journal of the European Histamine Research Society ... [et al.] 2015 Jun 64 (6): 463-70. Lee Min-Gu, Lee Young |
| Polymorphisms within beta-catenin encoding gene affect multiple myeloma development and treatment. Leukemia research 2015 Oct . Butrym Aleksandra, Rybka Justyna, ?acina Piotr, G?bura Katarzyna, Frontkiewicz Diana, Bogunia-Kubik Katarzyna, Mazur Grzego |
| 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 |
| Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population. Scientific reports 2017 Jun 7 (1): 4097. Zhou Wei, Zhuang Yi, Sun Jiapeng, Wang Xiaofen, Zhao Qingya, Xu Lizhi, Wang Yapi |
| FOXP3 polymorphisms in interstitial lung disease among Chinese Han population: A genetic association study. The clinical respiratory journal 2017 May . Yao Jianyu, Zhang Tianze, Zhang Lili, Han Kaiyu, Zhang Liny |
| Mutation Screening of Gata4 Gene in CTD Patients Within Chinese Han Population. Pediatric cardiology 2017 Mar 38 (3): 506-512. Liu Yang, Li Bojian, Xu Yuejuan, Sun K |
| TBX1 loss-of-function mutation contributes to congenital conotruncal defects. Experimental and therapeutic medicine 2017 12 15 (1): 447-453. Zhang Min, Li Fu-Xing, Liu Xing-Yuan, Hou Jing-Yi, Ni Shi-Hong, Wang Juan, Zhao Cui-Mei, Zhang Wei, Kong Ye, Huang Ri-Tai, Xue Song, Yang Yi-Qi |
| A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication. Journal of translational medicine 2018 9 16 (1): 260. Hong Nanchao, Zhang Erge, Wang Qingjie, Zhang Xiaoqing, Li Fen, Fu Qihua, Xu Rang, Yu Yu, Chen Sun, Xu Yuejuan, Sun K |
| Polymorphisms in the promoter region of the CRBN gene as a predictive factor for the first-line CTD therapy in multiple myeloma patients. Oncotarget 2018 May 9 (35): 24054-24068. Szudy-Szczyrek Aneta, Mlak Rados?aw, Szczyrek Micha?, Chocholska Sylwia, Sompor Jacek, Nogalski Adam, Ma?ecka-Massalska Teresa, Hus Mar |
| 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 |
| PPARgamma-2 and ADRB3 polymorphisms in connective tissue diseases and lipid disorders. Clinical interventions in aging 2018 13 463-472. Grygiel-Górniak Bogna, Zió?kowska-Suchanek Iwona, Kaczmarek El?bieta, Mosor Maria, Nowak Jerzy, Puszczewicz Mariu |
| Mitochondrial DNA mutations and respiratory chain dysfunction in idiopathic and connective tissue disease-related lung fibrosis. Scientific reports 2019 4 9 (1): 5500. Jaeger Veronika K, Lebrecht Dirk, Nicholson Andrew G, Wells Athol, Bhayani Harshil, Gazdhar Amiq, Tamm Michael, Venhoff Nils, Geiser Thomas, Walker Ulrich |
| Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. American journal of human genetics 2019 12 106 (1): 26-40. Zhao Yingjie, Diacou Alexander, Johnston H Richard, Musfee Fadi I, McDonald-McGinn Donna M, McGinn Daniel, Crowley T Blaine, Repetto Gabriela M, Swillen Ann, Breckpot Jeroen, Vermeesch Joris R, Kates Wendy R, Digilio M Cristina, Unolt Marta, Marino Bruno, Pontillo Maria, Armando Marco, Di Fabio Fabio, Vicari Stefano, van den Bree Marianne, Moss Hayley, Owen Michael J, Murphy Kieran C, Murphy Clodagh M, Murphy Declan, Schoch Kelly, Shashi Vandana, Tassone Flora, Simon Tony J, Shprintzen Robert J, Campbell Linda, Philip Nicole, Heine-Suñer Damian, García-Miñaúr Sixto, Fernández Luis, , Bearden Carrie E, Vingerhoets Claudia, van Amelsvoort Therese, Eliez Stephan, Schneider Maude, Vorstman Jacob A S, Gothelf Doron, Zackai Elaine, Agopian A J, Gur Raquel E, Bassett Anne S, Emanuel Beverly S, Goldmuntz Elizabeth, Mitchell Laura E, Wang Tao, Morrow Bernice |
| Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jan . Renner Sina, Schüler Helke, Alawi Malik, Kolbe Verena, Rybczynski Meike, Woitschach Rixa, Sheikhzadeh Sara, Stark Veronika C, Olfe Jakob, Roser Elke, Seggewies Friederike Sophia, Mahlmann Adrian, Hempel Maja, Hartmann Melanie J, Hillebrand Mathias, Wieczorek Dagmar, Volk Alexander Erich, Kloth Katja, Koch-Hogrebe Margarete, Abou Jamra Rami, Mitter Diana, Altmüller Janine, Wey-Fabrizius Alexandra, Petersen Christine, Rau Isabella, Borck Guntram, Kubisch Christian, Mir Thomas S, von Kodolitsch Yskert, Kutsche Kerstin, Rosenberger Geo |
| Telomere length and genetic variant associations with interstitial lung disease progression and survival. The European respiratory journal 2019 Jan . Newton Chad A, Oldham Justin M, Ley Brett, Anand Vikram, Adegunsoye Ayodeji, Liu Gabrielle, Batra Kiran, Torrealba Jose, Kozlitina Julia, Glazer Craig, Strek Mary E, Wolters Paul J, Noth Imre, Garcia Christine K |
| Systemic vascular distensibility relates to exercise capacity in connective tissue disease. Rheumatology (Oxford, England) 2020 10 60 (3): 1429-1434. Singh Inderjit, Oliveira Rudolf K F, Naeije Robert, Oldham William M, Faria-Urbina Mariana, Waxman Aaron B, Systrom David |
| A nonsynonymous polymorphism (rs117179004, T392M) of hyaluronidase 1 (HYAL1) is associated with increased risk of idiopathic pulmonary fibrosis in Southern Han Chinese. Journal of clinical laboratory analysis 2021 5 35 (6): e23782. Liu Juan, Deng Yanhan, Wang Zheng, Mo Biwen, Wei Jianghong, Cheng Zhenshun, Peng Qingzhen, Wei Guang, Li Jingping, Shu Ying, Yang Hua, Fang Shirong, Luo Guangwei, Yang Shuo, Wang Yingnan, Zhu Jing, Yang Jingping, Wu Ming, Xu Xuyan, Ge Renying, Zhang Xiaoju, Xiong Weining, Wang Xiaomei, Li Zongz |
| Connective Tissue Growth Factor Single Nucleotide Polymorphisms in (Familial) Pulmonary Fibrosis and Connective Tissue Disease Associated Interstitial Lung Disease. Lung 2021 Dec 199 (6): 659-666. Klay Dymph, van der Vis Joanne J, Roothaan Suzan M, Nguyen Tri Q, Grutters Jan C, Goldschmeding Roel, van Moorsel Coline H |
| Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing. Circulation. Genomic and precision medicine 2022 May 101161CIRCGEN121003527. Tarr Ingrid, Hesselson Stephanie, Iismaa Siiri E, Rath Emma, Monger Steven, Troup Michael, Mishra Ketan, Wong Claire M Y, Hsu Pei-Chen, Junday Keerat, Humphreys David T, Adlam David, Webb Tom R, Baranowska-Clarke Anna A, Hamby Stephen E, Carss Keren J, Samani Nilesh J, Bax Monique, McGrath-Cadell Lucy, Kovacic Jason C, Dunwoodie Sally L, Fatkin Diane, Muller David W M, Graham Robert M, Giannoulatou Ele |
| Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients. Journal, genetic engineering & biotechnology 2022 3 20 (1): 44. Sharaf-Eldin Wessam E, Issa Mahmoud Y, Zaki Maha S, Kilany Ayman, Fayez Alaaeldin |
Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer.
Human molecular genetics 2022 2 . Ramachandran Dhanya, Dennis Joe, Fachal Laura, Schürmann Peter, Bousset Kristine, Hülse Fabienne, Mao Qianqian, Wang Yingying, Jentschke Matthias, Böhmer Gerd, Strauß Hans-Georg, Hirchenhain Christine, Schmidmayr Monika, Müller Florian, Runnebaum Ingo, Hein Alexander, Stübs Frederik, Koch Martin, Ruebner Matthias, Beckmann Matthias W, Fasching Peter A, Luyten Alexander, Dürst Matthias, Hillemanns Peter, Easton Douglas F, Dörk Thi |
| Genetic Variants and Protein Alterations of Selenium- and T-2 Toxin-Responsive Genes Are Associated With Chondrocytic Damage in Endemic Osteoarthropathy. Frontiers in genetics 2021 12 773534. Ning Yujie, Hu Minhan, Diao Jiayu, Gong Yi, Huang Ruitian, Chen Sijie, Zhang Feiyu, Liu Yanli, Chen Feihong, Zhang Pan, Zhao Guanghui, Chang Yanhai, Xu Ke, Zhou Rong, Li Cheng, Zhang Feng, Lammi Mikko, Wang Xi, Guo Xio |
| Genetics of Parkinson's disease heterogeneity: A genome-wide association study of clinical subtypes. Parkinsonism & related disorders 2023 12 105935. Jaros?aw Dulski, Ryan J Uitti, Alexandra Beasley, Dena Hernandez, Vijay K Ramanan, Elliot J Cahn, Yingxue Ren, Patrick W Johnson, Zachary S Quicksall, Zbigniew K Wszolek, Owen A Ross, Michael G Heckm |
| Clinical Effectiveness of Genetic Testing Guidelines in Patients with Thoracic Aortic Aneurysms. The Journal of thoracic and cardiovascular surgery 2024 9 . Ely Erez, Adrian R Acuna Higaki, Michela Cupo, Tuan Anh Phu, Shiv Verma, Roland Assi, Prashanth Vallabhajosyu |
| Association of maternal folic acid supplementation and offspring MTRR gene polymorphism with congenital heart disease: a hospital-based case-control study in Han population. Journal of health, population, and nutrition 2024 12 43 (1): 220. Liuxuan Li, Jun Ou, Yige Chen, Qian Chen, Manjun Luo, Tingting Wang, Yingfan Zhang, Jiabi Q |
| Polygenic Risk in Families With Spontaneous Coronary Artery Dissection. JAMA cardiology 2024 1 . Ingrid Tarr, Stephanie Hesselson, Michael Troup, Paul Young, Jamie-Lee Thompson, Lucy McGrath-Cadell, Diane Fatkin, Sally L Dunwoodie, David W M Muller, Siiri E Iismaa, Jason C Kovacic, Robert M Graham, Eleni Giannoulat |
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