Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 45 Records) |
Query Trace: MVK[original query] |
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Genetic polymorphisms in the mevalonate pathway affect the therapeutic response to alendronate treatment in postmenopausal Chinese women with low bone mineral density. The pharmacogenomics journal 2015 Apr 15 (2): 158-64. Wang C, Zheng H, He J-W, Zhang H, Yue H, Hu W-W, Gu J-M, Shao C, Fu W-Z, Hu Y-Q, Li M, Liu Y-J, Zhang Z |
Genetic determinants of age-related macular degeneration in diverse populations from the PAGE study. Investigative ophthalmology & visual science 2014 Oct 55 (10): 6839-50. Restrepo Nicole A, Spencer Kylee L, Goodloe Robert, Garrett Tiana A, Heiss Gerardo, B?žková Petra, Jorgensen Neal, Jensen Richard A, Matise Tara C, Hindorff Lucia A, Klein Barbara E K, Klein Ronald, Wong Tien Y, Cheng Ching-Yu, Cornes Belinda K, Tai E-Shyong, Ritchie Marylyn D, Haines Jonathan L, Crawford Dana |
Control of the innate immune response by the mevalonate pathway. Nature immunology 2016 Jun . Akula Murali K, Shi Man, Jiang Zhaozhao, Foster Celia E, Miao David, Li Annie S, Zhang Xiaoman, Gavin Ruth M, Forde Sorcha D, Germain Gail, Carpenter Susan, Rosadini Charles V, Gritsman Kira, Chae Jae Jin, Hampton Randolph, Silverman Neal, Gravallese Ellen M, Kagan Jonathan C, Fitzgerald Katherine A, Kastner Daniel L, Golenbock Douglas T, Bergo Martin O, Wang Dongh |
Putative modifier genes in mevalonate kinase deficiency. Molecular medicine reports 2016 Feb . Marcuzzi Annalisa, Vozzi Diego, Girardelli Martina, Tricarico Paola Maura, Knowles Alessandra, Crovella Sergio, Vuch Josef, Tommasini Alberto, Piscianz Elisa, Bianco Anna Moni |
Evidence of digenic inheritance in autoinflammation-associated genes. Journal of genetics 2016 Dec 95 (4): 761-766. Neocleous Vassos, Byrou Stefania, Toumba Meropi, Costi Constantina, Shammas Christos, Kyriakou Christina, Christophidou-Anastasiadou Violetta, Tanteles George A, Hadjipanayis Adamos, Phylactou Leonidas |
Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population. Lipids in health and disease 2016 Oct 15 (1): 171. Sun Jie, Qian Yun, Jiang Yue, Chen Jiaping, Dai Juncheng, Jin Guangfu, Wang Jianming, Hu Zhibin, Liu Sijun, Shen Chong, Shen Hongbi |
[Analysis of clinical and genetic features of nine patients with disseminated superfacial actinic porokeratosis]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 Aug 34 (4): 481-485. Li Xiuling, Zhou Qian, Zhu Lude, Zhao Zijun, Wang Peiru, Zhang Linglin, Zhang Guolong, Wang Xiu |
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach. Scientific reports 2017 8 7 (1): 8453. Burillo-Sanz Sergio, Montes-Cano Marco-Antonio, García-Lozano José-Raúl, Ortiz-Fernández Lourdes, Ortego-Centeno Norberto, García-Hernández Francisco-José, Espinosa Gerard, Graña-Gil Genaro, Sánchez-Bursón Juan, Rosa Juliá María, Solans Roser, Blanco Ricardo, Barnosi-Marín Ana-Celia, Gómez De la Torre Ricardo, Fanlo Patricia, Rodríguez-Carballeira Mónica, Rodríguez-Rodríguez Luis, Camps Teresa, Castañeda Santos, Alegre-Sancho Juan-Jose, Martín Javier, González-Escribano María Francis |
MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency. Rheumatology international 2017 12 38 (1): 121-127. Mezzavilla Massimo, Moura Ronald Rodrigues, Celsi Fulvio, Tricarico Paola Maura, Crovella Serg |
Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes. Rheumatology international 2017 Nov . Sighart R, Rech J, Hueber A, Blank N, Löhr S, Reis A, Sticht H, Hüffmeier |
Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF. Clinical and experimental rheumatology 2017 11 35 Suppl 108 (6): 75-81. Karacan ?lker, U?urlu Serdal, Tolun Asl?han, Tahir Turanl? Eda, Ozdogan Hu |
The effect of MVK-MMAB variants, their haplotypes and G×E interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke. Oncotarget 2017 Sep 8 (42): 72801-72817. Miao Liu, Yin Rui-Xing, Huang Feng, Chen Wu-Xian, Cao Xiao-Li, Wu Jin-Zh |
Association between the MVK and MMAB polymorphisms and serum lipid levels. Oncotarget 2017 Sep 8 (41): 70378-70393. Miao Liu, Yin Rui-Xing, Pan Shang-Ling, Yang Shuo, Yang De-Zhai, Lin Wei-Xio |
Association between the MVK rs2287218 SNP and the risk of coronary heart disease and ischemic stroke: A case-control study. Bioscience trends 2018 Aug . Wang Duo-Shun, Yin Rui-Xing, Li Kai-Guang, Lu Li, Su Yuan, Yan Rong-Q |
Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis. The Journal of dermatology 2018 May . Leng Yunji, Yan Lulu, Feng Hongquan, Chen Chen, Wang Shusen, Luo Yang, Cao Lih |
Genetic Variants Associated With Plasma Lipids Are Associated With the Lipid Response to Niacin.
Journal of the American Heart Association 2018 Oct 7 (19): e03488. Tuteja Sony, Qu Liming, Vujkovic Marijana, Dunbar Richard L, Chen Jinbo, DerOhannessian Stephanie, Rader Daniel |
Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes. International journal of immunogenetics 2019 5 46 (4): 232-240. Ozyilmaz Berk, Kirbiyik Ozgur, Koc Altug, Ozdemir Taha R, Kaya Ozer Ozge, Kutbay Yasar B, Erdogan Kadri M, Saka Guvenc Merve, Ozturk C |
Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes. Scientific reports 2019 2 9 (1): 2777. Burillo-Sanz Sergio, Montes-Cano Marco-Antonio, García-Lozano José-Raúl, Olivas-Martínez Israel, Ortego-Centeno Norberto, García-Hernández Francisco-José, Espinosa Gerard, Graña-Gil Genaro, Sánchez-Bursón Juan, Juliá María Rosa, Solans Roser, Blanco Ricardo, Barnosi-Marín Ana-Celia, Gómez de la Torre Ricardo, Fanlo Patricia, Rodríguez-Carballeira Mónica, Rodríguez-Rodríguez Luis, Camps Teresa, Castañeda Santos, Alegre-Sancho Juan-Jose, Martín Javier, González-Escribano María Francis |
A Combination of Single Nucleotide Polymorphisms is Associated with the Interindividual Variability of Cholesterol Bioavailability in Healthy Adult Males. Molecular nutrition & food research 2020 9 64 (22): e2000480. Desmarchelier Charles, Wolff Estelle, Defoort Catherine, Nowicki Marion, Morange Pierre-Emmanuel, Alessi Marie-Christine, Valéro René, Nicolay Alain, Lairon Denis, Borel Patri |
Is gene panel sequencing more efficient than clinical-based gene sequencing to diagnose autoinflammatory diseases? A randomized study. Clinical and experimental immunology 2020 9 203 (1): 105-114. Rama M, Mura T, Kone-Paut I, Boursier G, Aouinti S, Touitou I, Sarrabay |
Diagnostic Rate of Autoinflammatory Diseases Evaluated by Fever Patterns in Pediatric- and Adult-Onset Patients. Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2020 Mar 26 (2): 60-62. Miyamae Takako, Hanaya Aki, Kawamoto Manabu, Tani Yumi, Kawaguchi Yasushi, Yamanaka Hisas |
Quantile-Dependent Expressivity and Gene-Lifestyle Interactions Involving High-Density Lipoprotein Cholesterol. Lifestyle genomics 2020 12 14 (1): 1-19. Williams Paul |
Candidate Gene Analysis Reveals Strong Association of CETP Variants With High Density Lipoprotein Cholesterol and PCSK9 Variants With Low Density Lipoprotein Cholesterol in Ghanaian Adults: An AWI-Gen Sub-Study. Frontiers in genetics 2020 11 456661. Agongo Godfred, Amenga-Etego Lucas, Nonterah Engelbert A, Debpuur Cornelius, Choudhury Ananyo, Bentley Amy R, Oduro Abraham R, Rotimi Charles N, Crowther Nigel J, Ramsay Michèle, , H Afric |
Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis. Clinica chimica acta; international journal of clinical chemistry 2021 11 523 441-445. Li Li, Zuo Nan, Yang Danyang, Zhang Dingwei, Feng Yiguo, Li Xiao |
Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center. Journal of the American Heart Association 2022 6 11 (11): e024931. Peet Claire J, Rowczenio Dorota, Omoyinmi Ebun, Papadopoulou Charalampia, Mapalo Bella Ruth R, Wood Michael R, Capon Francesca, Lachmann Helen |
A preliminary study of peripheral T-cell subsets in porokeratosis patients with MVK or MVD variants. Skin health and disease 2022 Mar 2 (1): e82. Tao L, Huang Y K, Yan K X, Li C H, Shen L, Zhang Z |
Next-Generation Sequencing Analysis of MVK, NLRP3, TNFRSF1A, and PSTPIP1 Genes in Patients without MEFV Gene Variation and Genotype-Phenotype Correlation. European journal of rheumatology 2022 5 9 (2): 62-67. Vuran Gamze, Berdeli Af |
Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. Archives of rheumatology 2023 9 38 (2): 299-306. Rabia Miray K??la Ekinci, Özlem Anla?, Özge Öza |
Mevalonate kinase gene polymorphisms in ankylosing spondylitis patients: A cross-sectional study. Archives of rheumatology 2023 9 38 (2): 238-248. Fatih Y?ld?z, Suzan Dinkçi, Eren Erk |
Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy. European journal of internal medicine 2023 5 . Agostino Di Ciaula, Matteo Iacoviello, Leonilde Bonfrate, Mohamad Khalil, Harshitha Shanmugam, Giuseppe Lopalco, Rosanna Bagnulo, Antonella Garganese, Florenzo Iannone, Nicoletta Resta, Piero Portincasa, Alessandro Stel |
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- Page last updated:Apr 22, 2024
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