Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission

Journal of Medical Genetics

Volumn 51, Issue 8, 2014, Pages 502-511

  Demars, Julie ^a,b   Shmela, Mansur Ennuri ^a,c   Khan, Abdul Waheed ^a,d   Lee, Kai Syin ^a   Azzi, Salah ^e   Dehais, Patrice ^b   Netchine, Irène ^e,f   Rossignol, Sylvie ^e,f   Bouc, Yves Le ^e,f   El Osta, Assam ^a,c,d   Gicquel, Christine ^a,c  

^a BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

^b UMR1388 GenPhySE   (France)

^c MONASH UNIVERSITY   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e INSERM   (France)

^f SORBONNE UNIVERSITÉ   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CIS ACTING ELEMENT; DNA; POTASSIUM CHANNEL KCNQ1; TRANS ACTING FACTOR; TRANSCRIPTION FACTOR CTCF; CCCTC-BINDING FACTOR; KCNQ1 PROTEIN, HUMAN; REPRESSOR PROTEIN;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; BINDING SITE; CHROMOSOME 11P; CHROMOSOME 11P15; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; DNA METHYLATION; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; GENOME IMPRINTING; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; PRIORITY JOURNAL; PROTEIN BINDING; REGULATORY SEQUENCE; RISK FACTOR; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; VERTICAL TRANSMISSION; GENETICS; MALE; METABOLISM; MUTATION;

BECKWITH-WIEDEMANN SYNDROME; BINDING SITES; DNA METHYLATION; FEMALE; HAPLOTYPES; HUMANS; INTRONS; KCNQ1 POTASSIUM CHANNEL; MALE; MUTATION; REPRESSOR PROTEINS;

EID: 84906101493     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102368     Document Type: Article

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