Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

American Journal of Human Genetics

Volumn 95, Issue 1, 2014, Pages 85-95

  Schulte, Eva C ^a,b   Kousi, Maria ^c   Tan, Perciliz L ^c   Tilch, Erik ^b,d   Knauf, Franziska ^b   Lichtner, Peter ^b,d   Trenkwalder, Claudia ^e,f   Högl, Birgit ^g   Frauscher, Birgit ^g   Berger, Klaus ^h   Fietze, Ingo ⁱ   Hornyak, Magdolna ^a,j,k   Oertel, Wolfgang H ^l   Bachmann, Cornelius G ^f,m   Zimprich, Alexander ⁿ   Peters, Annette ^b   Gieger, Christian ^b   Meitinger, Thomas ^b,d,o   Müller Myhsok, Bertram ^o,p,q   Katsanis, Nicholas ^c   Winkelmann, Juliane ^a,b,d,o,r   more..

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e PARACELSUS ELENA KLINIK   (Germany)

^f UNIVERSITY OF GÖTTINGEN   (Germany)

^g INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^h UNIVERSITY OF MÜNSTER   (Germany)

ⁱ CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^j UNIVERSITY OF FREIBURG   (Germany)

^k Diakoniewerk München Maxvorstadt   (Germany)

^l PHILIPPS UNIVERSITY MARBURG   (Germany)

^m Andreas Bannowsky Ltd   (Germany)

ⁿ MEDICAL UNIVERSITY OF VIENNA   (Austria)

^o Germany 3 Munich Cluster for Systems Neurology   (Germany)

^p MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^q UNIVERSITY OF LIVERPOOL   (United Kingdom)

^r STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; MEIS1 HOMEOPROTEIN; UNCLASSIFIED DRUG; DNA; MEIS1 PROTEIN; MESSENGER RNA; TRANSCRIPTION FACTOR; UNTRANSLATED RNA; MYELOID ECOTROPIC VIRAL INTEGRATION SITE 1 PROTEIN; TUMOR PROTEIN;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; EMBRYO; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; IN VIVO STUDY; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MASS SPECTROMETRY; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RARE DISEASE; RESTLESS LEGS SYNDROME; BINDING SITE; DNA BINDING; EXON; GENE FREQUENCY; GENE LOCUS; GENE OVEREXPRESSION; GENE TARGETING; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; INTRON; SUPERIOR COLLICULUS; ZEBRA FISH; ANIMAL; EMBRYOLOGY; GENETIC COMPLEMENTATION; GENETICS;

ANIMALS; GENETIC COMPLEMENTATION TEST; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION; MASS SPECTROMETRY; NEOPLASM PROTEINS; RESTLESS LEGS SYNDROME; ZEBRAFISH;

EID: 84903987375     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.06.005     Document Type: Article

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