Restless Legs Syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon

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Restless legs syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon.

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 ze...

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MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels.

Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible urge to move the legs at night, which is often accompanied by unpleasant sensations. A recent genomewide association study identified an association between RLS and intronic markers from the MEIS1 gene. Comparative genomic analysis indicates that MEIS1 is the only gene encompassed in this evolutionar...

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MEIS1 variant as a determinant of autonomic imbalance in Restless Legs Syndrome

Restless Legs Syndrome (RLS) is a genetically complex neurological disorder in which overlapping genetic risk factors may contribute to the diversity and heterogeneity of the symptoms. The main goal of the study was to investigate, through analysis of heart rate variability (HRV), whether in RLS patients the MEIS1 polymorphism at risk influences the sympathovagal regulation in different sleep s...

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Sensory profile in primary restless legs syndrome and restless legs syndrome associated with small fibre neuropathy.

Sir, The association of restless legs syndrome with polyneuropathy, especially with involvement of small sensory fibres, is suggested by several observations (Iannaccone et al., 1995; Polydefkis et al., 2000; Gemignani et al., 2006); however, it is still controversial (Hattan et al., 2009). Bachmann et al. (2010) investigated 34 consecutive outpatients with restless legs syndrome from their Mov...

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ژورنال

عنوان ژورنال: Genome Research

سال: 2014

ISSN: 1088-9051

DOI: 10.1101/gr.166751.113