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Dokumenttyp:
journal article 
Autor(en):
Spieler, Derek; Kaffe, Maria; Knauf, Franziska; Bessa, José; Tena, Juan J; Giesert, Florian; Schormair, Barbara; Tilch, Erik; Lee, Heekyoung; Horsch, Marion; Czamara, Darina; Karbalai, Nazanin; von Toerne, Christine; Waldenberger, Melanie; Gieger, Christian; Lichtner, Peter; Claussnitzer, Melina; Naumann, Ronald; Müller-Myhsok, Bertram; Torres, Miguel; Garrett, Lillian; Rozman, Jan; Klingenspor, Martin; Gailus-Durner, Valérie; Fuchs, Helmut; Hrab? de Angelis, Martin; Beckers, Johannes; Hölter, S...    »
 
Titel:
Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon. 
Abstract:
Genome-wide association studies (GWAS) identified the MEIS1 locus for Restless Legs Syndrome (RLS), but causal single nucleotide polymorphisms (SNPs) and their functional relevance remain unknown. This locus contains a large number of highly conserved noncoding regions (HCNRs) potentially functioning as cis-regulatory modules. We analyzed these HCNRs for allele-dependent enhancer activity in zebrafish and mice and found that the risk allele of the lead SNP rs12469063 reduces enhancer activity in...    »
 
Zeitschriftentitel:
Genome Res 
Jahr:
2014 
Band / Volume:
24 
Heft / Issue:
Seitenangaben Beitrag:
592-603 
Sprache:
eng 
Print-ISSN:
1088-9051 
TUM Einrichtung:
Neurologische Klinik und Poliklinik; Institut für Humangenetik