An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression

Journal of Clinical Investigation

Volumn 115, Issue 4, 2005, Pages 900-909

  Niedermaier, Michael ^a,b   Schwabe, Georg C ^a,c   Fees, Stephan ^d   Helmrich, Anne ^c,e   Brieske, Norbert ^a   Seemann, Petra ^a   Hecht, Jochen ^a   Seitz, Volkhard ^a   Stricker, Sigmar ^a   Leschik, Gundula ^c   Schrock, Evelin ^c,e   Selby, Paul B ^f   Mundlos, Stefan ^a,c  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b FREIE UNIVERSITÄT BERLIN   (Germany)

^c HUMBOLDT UNIVERSITY   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^f RiskMuTox   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BASE PAIRING; BRACHYDACTYLY; CARTILAGE CELL; CELL DIFFERENTIATION; CHROMOSOME 5; CHROMOSOME INVERSION; CONTROLLED STUDY; DOWN REGULATION; EMBRYO; GENE; GENE EXPRESSION; GENE INACTIVATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GLI1 3 GENE; HETEROZYGOTE; HOMOZYGOTE; MOUSE; MOUSE MUTANT; NONHUMAN; PATCHED GENE; PHALANX; PHENOTYPE; PRIMORDIUM; PRIORITY JOURNAL; PROTEIN EXPRESSION; PTHLH GENE; SEQUENCE ANALYSIS; SHH GENE; SPECIES COMPARISON; UPREGULATION;

ANIMALS; CHROMOSOMES, HUMAN, PAIR 5; EMBRYO; FOOT; FOOT DEFORMITIES, CONGENITAL; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HEDGEHOG PROTEINS; HUMANS; IN SITU HYBRIDIZATION; INVERSION, CHROMOSOME; JOINTS; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MORPHOGENESIS; OSTEOGENESIS; PHENOTYPE; TRANS-ACTIVATORS;

EID: 20144387066     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI200523675     Document Type: Article

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