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Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Mirza-Schreiber N, Zech M, Wilson R, Brunet T, Wagner M, Jech R, Boesch S, Škorvánek M, Necpál J, Weise D, Weber S, Mollenhauer B, Trenkwalder C, Maier EM, Borggraefe I, Vill K, Hackenberg A, Pilshofer V, Kotzaeridou U, Schwaibold EMC, Hoefele J, Waldenberger M, Gieger C, Peters A, Meitinger T, Schormair B, Winkelmann J, Oexle K. Mirza-Schreiber N, et al. Among authors: meitinger t. Brain. 2022 Apr 18;145(2):644-654. doi: 10.1093/brain/awab360. Brain. 2022. PMID: 34590685
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadeh S, Fulda S, Pütz B, Eckstein G, Hauk S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Peglau I, Eisensehr I, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T. Winkelmann J, et al. Among authors: meitinger t. Nat Genet. 2007 Aug;39(8):1000-6. doi: 10.1038/ng2099. Epub 2007 Jul 18. Nat Genet. 2007. PMID: 17637780
Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome.
Winkelmann J, Lichtner P, Schormair B, Uhr M, Hauk S, Stiasny-Kolster K, Trenkwalder C, Paulus W, Peglau I, Eisensehr I, Illig T, Wichmann HE, Pfister H, Golic J, Bettecken T, Pütz B, Holsboer F, Meitinger T, Müller-Myhsok B. Winkelmann J, et al. Among authors: meitinger t. Mov Disord. 2008 Feb 15;23(3):350-8. doi: 10.1002/mds.21647. Mov Disord. 2008. PMID: 18058820
PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome.
Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vávrová J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller-Myhsok B, Meitinger T, Winkelmann J. Schormair B, et al. Among authors: meitinger t. Nat Genet. 2008 Aug;40(8):946-8. doi: 10.1038/ng.190. Epub 2008 Jul 27. Nat Genet. 2008. PMID: 18660810
A genome-wide association study identifies three loci associated with mean platelet volume.
Meisinger C, Prokisch H, Gieger C, Soranzo N, Mehta D, Rosskopf D, Lichtner P, Klopp N, Stephens J, Watkins NA, Deloukas P, Greinacher A, Koenig W, Nauck M, Rimmbach C, Völzke H, Peters A, Illig T, Ouwehand WH, Meitinger T, Wichmann HE, Döring A. Meisinger C, et al. Among authors: meitinger t. Am J Hum Genet. 2009 Jan;84(1):66-71. doi: 10.1016/j.ajhg.2008.11.015. Epub 2008 Dec 24. Am J Hum Genet. 2009. PMID: 19110211 Free PMC article.
Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels.
Oexle K, Ried JS, Hicks AA, Tanaka T, Hayward C, Bruegel M, Gögele M, Lichtner P, Müller-Myhsok B, Döring A, Illig T, Schwienbacher C, Minelli C, Pichler I, Fiedler GM, Thiery J, Rudan I, Wright AF, Campbell H, Ferrucci L, Bandinelli S, Pramstaller PP, Wichmann HE, Gieger C, Winkelmann J, Meitinger T. Oexle K, et al. Among authors: meitinger t. Hum Mol Genet. 2011 Mar 1;20(5):1042-7. doi: 10.1093/hmg/ddq538. Epub 2010 Dec 10. Hum Mol Genet. 2011. PMID: 21149283 Free PMC article.
Sampling GWAS subjects from risk populations.
Oexle K, Meitinger T. Oexle K, et al. Among authors: meitinger t. Genet Epidemiol. 2011 Apr;35(3):148-53. doi: 10.1002/gepi.20562. Epub 2011 Feb 16. Genet Epidemiol. 2011. PMID: 21328614
708 results