Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip

Nature Genetics

Volumn 40, Issue 11, 2008, Pages 1341-1347

  Rahimov, Fedik ^a   Marazita, Mary L ^b   Visel, Axel ^c   Cooper, Margaret E ^b   Hitchler, Michael J ^a   Rubini, Michele ^d   Domann, Frederick E ^a   Govil, Manika ^b   Christensen, Kaare ^e   Bille, Camille ^e   Melbye, Mads ^f   Jugessur, Astanand ^g   Lie, Rolv T ^g   Wilcox, Allen J ^h   Fitzpatrick, David R ⁱ   Green, Eric D ^j   Mossey, Peter A ^k   Little, Julian ^l   Steegers Theunissen, Regine P ^m   Pennacchio, Len A ^c   Schutte, Brian C ^a   Murray, Jeffrey C ^a   more..

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^d UNIVERSITY OF FERRARA   (Italy)

^e UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^f STATENS SERUM INSTITUT   (Denmark)

^g UNIVERSITY OF BERGEN   (Norway)

^h NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

ⁱ WESTERN GENERAL HOSPITAL   (United Kingdom)

^j NATIONAL INSTITUTES OF HEALTH   (United States)

^k UNIVERSITY OF DUNDEE   (United Kingdom)

^l UNIVERSITY OF OTTAWA   (Canada)

^m ERASMUS MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTERFERON REGULATORY FACTOR 6; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR AP 2ALPHA; UNCLASSIFIED DRUG; INTERFERON REGULATORY FACTOR; IRF6 PROTEIN, HUMAN; IRF6 PROTEIN, MOUSE; TRANSCRIPTION FACTOR AP 2;

ALLELE; ARTICLE; BINDING SITE; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; GEL MOBILITY SHIFT ASSAY; GENE DISRUPTION; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN EXPRESSION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; CASE CONTROL STUDY; ENHANCER REGION; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; RISK; TRANSGENIC MOUSE;

ALLELES; ANIMALS; BASE SEQUENCE; BINDING SITES; CASE-CONTROL STUDIES; CLEFT LIP; CONSERVED SEQUENCE; ENHANCER ELEMENTS, GENETIC; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INTERFERON REGULATORY FACTORS; MICE; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; ODDS RATIO; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; TRANSCRIPTION FACTOR AP-2;

EID: 55049105999     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.242     Document Type: Article

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