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Items: 1 to 20 of 48

1.
Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype
Frouwkje A. Politiek, Marjolein Turkenburg, Rob Ofman, Hans R. Waterham
Front Immunol. 2024; 15: 1379220. Published online 2024 Mar 14. doi: 10.3389/fimmu.2024.1379220
PMCID:
PMC10972877
AbstractArticlePDF–2.1M
2.
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome
Geeta Madathil Govindaraj, Abhinav Jain, Geetha Peethambaran, Rahul C. Bhoyar, Shamsudheen Karuthedath Vellarikkal, Arvind Ganapati, Pulukool Sandhya, Athulya Edavazhippurath, Dhananjayan Dhanasooraj, Jayakrishnan Machinary Puthenpurayil, Krishnan Chakkiyar, Anushree Mishra, Arushi Batra, Anu Punnen, Sathish Kumar, Sridhar Sivasubbu, Vinod Scaria
PLoS One. 2020; 15(8): e0237999. Published online 2020 Aug 21. doi: 10.1371/journal.pone.0237999
PMCID:
PMC7442240
AbstractArticlePDF–1.0M
3.
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency
Marcia A. Munoz, Julie Jurczyluk, Anna Simon, Pravin Hissaria, Rob J. W. Arts, David Coman, Christina Boros, Sam Mehr, Michael J. Rogers
Front Immunol. 2019; 10: 1900. Published online 2019 Aug 14. doi: 10.3389/fimmu.2019.01900
PMCID:
PMC6702261
AbstractArticlePDF–845K
4.
Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae
Kara Dunn, Brad Pasternak, Judith R. Kelsen, Kathleen E. Sullivan, Noor Dawany, Benjamin L. Wright
Ann Allergy Asthma Immunol. Author manuscript; available in PMC 2019 Feb 1.
Published in final edited form as: Ann Allergy Asthma Immunol. 2018 Feb; 120(2): 214–215. Published online 2017 Dec 28. doi: 10.1016/j.anai.2017.11.011
PMCID:
PMC5803340
ArticlePDF–341K
5.
Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP
Wen-Sheng Lu, Xiao-Dong Zheng, Xiu-Hua Yao, Lan-Fang Zhang, Bai Hu, Yao-Juan Lu
Int J Clin Exp Pathol. 2014; 7(2): 728–732. Published online 2014 Jan 15.
PMCID:
PMC3925920
AbstractArticlePDF–651K
6.
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.
D D Hinson, R M Ross, S Krisans, J L Shaw, V Kozich, M O Rolland, P Divry, J Mancini, G F Hoffmann, K M Gibson
Am J Hum Genet. 1999 Aug; 65(2): 327–335. doi: 10.1086/302489
PMCID:
PMC1377931
SummaryPDF–306K
7.
(R)-mevalonate excretion in human and rat urines.
R R Kopito, H Brunengraber
Proc Natl Acad Sci U S A. 1980 Oct; 77(10): 5738–5740. doi: 10.1073/pnas.77.10.5738
PMCID:
PMC350145
SummaryPage BrowsePDF–682K
8.
Regulation of LH Receptor mRNA Binding Protein by miR-122 in Rat Ovaries
Bindu Menon, Jennifer Sinden, Meghan Franzo-Romain, Raman Bhadradri Botta, K. M. J. Menon
Endocrinology. 2013 Dec; 154(12): 4826–4834. Published online 2013 Sep 24. doi: 10.1210/en.2013-1619
PMCID:
PMC3836072
AbstractArticle
9.
Luteinizing Hormone Receptor mRNA Down-Regulation Is Mediated through ERK-Dependent Induction of RNA Binding Protein
Bindu Menon, Megan Franzo-Romain, Shadi Damanpour, K. M. J. Menon
Mol Endocrinol. 2011 Feb; 25(2): 282–290. Published online 2010 Dec 8. doi: 10.1210/me.2010-0366
PMCID:
PMC3386540
AbstractArticle
10.
Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK
Marie P. Fogarty, Rui Xiao, Ludmila Prokunina-Olsson, Laura J. Scott, Karen L. Mohlke
Hum Mol Genet. 2010 May 15; 19(10): 1921–1929. Published online 2010 Feb 16. doi: 10.1093/hmg/ddq067
PMCID:
PMC2860891
AbstractArticlePDF–395K
11.
Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population
Jie Sun, Yun Qian, Yue Jiang, Jiaping Chen, Juncheng Dai, Guangfu Jin, Jianming Wang, Zhibin Hu, Sijun Liu, Chong Shen, Hongbing Shen
Lipids Health Dis. 2016; 15: 171. Published online 2016 Oct 4. doi: 10.1186/s12944-016-0348-7
PMCID:
PMC5050677
AbstractArticlePDF–423K
12.
Combined Mutation And Rearrangement Screening by Quantitative PCR High-Resolution Melting: Is It Relevant for Hereditary Recurrent Fever Genes?
Nathalie Pallares-Ruiz, Laurent Philibert, Bruno Dumont, Aurélie Fabre, Laurence Cuisset, Elodie Cointin, Cécile Rittore, Stéphan Soler, Isabelle Touitou
PLoS One. 2010; 5(11): e14096. Published online 2010 Nov 23. doi: 10.1371/journal.pone.0014096
PMCID:
PMC2990815
AbstractArticlePDF–687K
13.
Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency
L. Henneman, M. S. Schneiders, M. Turkenburg, H. R. Waterham
J Inherit Metab Dis. 2010; 33(5): 625–632. Published online 2010 Sep 3. doi: 10.1007/s10545-010-9173-8
PMCID:
PMC2946549
AbstractArticlePDF–180K
14.
Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study
Mireia Junyent, Laurence D Parnell, Chao-Qiang Lai, Yu-Chi Lee, Caren E Smith, Donna K Arnett, Michael Y Tsai, Edmond K Kabagambe, Robert J Straka, Michael Province, Ping An, Ingrid Borecki, José M Ordovás
Am J Clin Nutr. 2009 Sep; 90(3): 686–694. Published online 2009 Jul 15. doi: 10.3945/ajcn.2009.27738
PMCID:
PMC2728650
AbstractArticlePDF–227K
15.
Autoinflammatory gene mutations in Behçet's disease
I Koné‐Paut, E Sanchez, A Le Quellec, R Manna, I Touitou
Ann Rheum Dis. 2007 Jun; 66(6): 832–834. Published online 2007 Jan 9. doi: 10.1136/ard.2006.068841
PMCID:
PMC1954666
AbstractArticlePDF–129K
16.
Investigation of variants identified in Caucasian genome-wide association studies for plasma HDL cholesterol and triglycerides levels in Mexican dyslipidemic study samples
Daphna Weissglas-Volkov, Carlos A. Aguilar-Salinas, Janet S. Sinsheimer, Laura Riba, Adriana Huertas-Vazquez, Maria L. Ordoñez-Sánchez, Rosario Rodriguez-Guillen, Rita M. Cantor, Teresa Tusie-Luna, Päivi Pajukanta
Circ Cardiovasc Genet. Author manuscript; available in PMC 2010 Sep 1.
Published in final edited form as: Circ Cardiovasc Genet. 2010 Feb 1; 3(1): 31–38. Published online 2009 Dec 11. doi: 10.1161/CIRCGENETICS.109.908004
PMCID:
PMC2827864
AbstractArticlePDF–99K
17.
Genetic Differences between the Determinants of Lipid Profile Phenotypes in African and European Americans: The Jackson Heart Study
Rahul C. Deo, David Reich, Arti Tandon, Ermeg Akylbekova, Nick Patterson, Alicja Waliszewska, Sekar Kathiresan, Daniel Sarpong, Herman A. Taylor, Jr., James G. Wilson
PLoS Genet. 2009 Jan; 5(1): e1000342. Published online 2009 Jan 16. doi: 10.1371/journal.pgen.1000342
PMCID:
PMC2613537
AbstractArticlePDF–149K
18.
Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits
Ayellet V. Segrè, DIAGRAM Consortium, MAGIC investigators, Leif Groop, Vamsi K. Mootha, Mark J. Daly, David Altshuler
PLoS Genet. 2010 Aug; 6(8): e1001058. Published online 2010 Aug 12. doi: 10.1371/journal.pgen.1001058
PMCID:
PMC2920848
AbstractArticlePDF–469K
19.
Newly identified loci that influence lipid concentrations and risk of coronary artery disease
Cristen J Willer, Serena Sanna, Anne U Jackson, Angelo Scuteri, Lori L Bonnycastle, Robert Clarke, Simon C Heath, Nicholas J Timpson, Samer S Najjar, Heather M Stringham, James Strait, William L Duren, Andrea Maschio, Fabio Busonero, Antonella Mulas, Giuseppe Albai, Amy J Swift, Mario A Morken, Narisu Narisu, Derrick Bennett, Sarah Parish, Haiqing Shen, Pilar Galan, Pierre Meneton, Serge Hercberg, Diana Zelenika, Wei-Min Chen, Yun Li, Laura J Scott, Paul A Scheet, Jouko Sundvall, Richard M Watanabe, Ramaiah Nagaraja, Shah Ebrahim, Debbie A Lawlor, Yoav Ben-Shlomo, George Davey-Smith, Alan R Shuldiner, Rory Collins, Richard N Bergman, Manuela Uda, Jaakko Tuomilehto, Antonio Cao, Francis S Collins, Edward Lakatta, G Mark Lathrop, Michael Boehnke, David Schlessinger, Karen L Mohlke, Gonçalo R Abecasis
Nat Genet. Author manuscript; available in PMC 2017 Jan 3.
Published in final edited form as: Nat Genet. 2008 Feb; 40(2): 161–169. Published online 2008 Jan 13. doi: 10.1038/ng.76
PMCID:
PMC5206900
AbstractArticlePDF–241K
20.
Genetic variants influencing circulating lipid levels and risk of coronary artery disease
Dawn M Waterworth, Sally L Ricketts, Kijoung Song, Li Chen, Jing Hua Zhao, Samuli Ripatti, Yurii S Aulchenko, Weihua Zhang, Xin Yuan, Noha Lim, Jian’an Luan, Sofie Ashford, Eleanor Wheeler, Elizabeth H Young, David Hadley, John R Thompson, Peter S Braund, Toby Johnson, Maksim Struchalin, Ida Surakka, Robert Luben, Kay-Tee Khaw, Sheila A Rodwell, Ruth J F Loos, S. Matthijs Boekholdt, Michael Inouye, Panagiotis Deloukas, Paul Elliott, David Schlessinger, Serena Sanna, Angelo Scuteri, Anne Jackson, Karen L Mohlke, Jaako Tuomilehto, Robert Roberts, Alexandre Stewart, Y Antero Kesäniemi, Robert W Mahley, Scott M Grundy, Albert Hofman, Wellcome Trust Case Control Consortium, Wendy McArdle, Lon Cardon, Gérard Waeber, Peter Vollenweider, John C Chambers, Michael Boehnke, Gonçalo R Abecasis, Veikko Salomaa, Marjo-Riitta Järvelin, Inês Barroso, Stephen E Epstein, Hakon H Hakonarson, Daniel J Rader, Muredach P Reilly, Jacqueline C M Witteman, Alistair S Hall, Nilesh J Samani, David P Strachan, Philip Barter, Cornelia M van Duijn, Jaspal S Kooner, Leena Peltonen, Nicholas J Wareham, Ruth McPherson, Vincent Mooser, Manjinder S Sandhu
Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2014 Jan 14.
Published in final edited form as: Arterioscler Thromb Vasc Biol. 2010 Nov; 30(11): 2264–2276. Published online 2010 Sep 23. doi: 10.1161/ATVBAHA.109.201020
PMCID:
PMC3891568
AbstractArticlePDF–691K

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