Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated withspecific methylation patterns in Beckwith-Wiedemann syndrome

Human Molecular Genetics

Volumn 23, Issue 21, 2014, Pages 5763-5773

  Habib, Walid Abi ^a,b,c   Azzi, Salah ^a,b,c   Brioude, Frédéric ^a,b,c   Steunou, Virginie ^a   Thibaud, Nathalie ^c   Das Neves, Cristina ^c   Le Jule, Marilyne ^c   Chantot Bastaraud, Sandra ^d,e   Keren, Boris ^e   Lyonnet, Stanislas ^f   Michot, Caroline ^f   Rossi, Massimiliano ^g,h   Pasquier, Laurent ⁱ   Gicquel, Christine ^j   Rossignol, Sylvie ^a,c   Le Bouc, Yves ^a,b,c   Netchine, Irène ^a,b,c  

^a CENTRE DE RECHERCHE SAINT ANTOINE   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d Service deGénétique et D'EmbryologieMé dicales   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g HOSPICES CIVILS DE LYON   (France)

^h LYON NEUROSCIENCE RESEARCH CENTER   (France)

ⁱ RENNES UNIVERSITY HOSPITAL   (France)

^j BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

OCTAMER TRANSCRIPTION FACTOR 4; TRANSCRIPTION FACTOR SOX2; H19 LONG NON-CODING RNA; LONG UNTRANSLATED RNA; SOMATOMEDIN B; TRANSCRIPTION FACTOR SOX;

ARTICLE; BECKWITH WIEDEMANN SYNDROME; BINDING SITE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GAIN OF METHYLATION; GENE; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; GENETIC REGULATION; GENOME IMPRINTING; H19 GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; IGF2 GENE; MAJOR CLINICAL STUDY; MALE; METHYLATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PROTEIN MOTIF; BECKWITH-WIEDEMANN SYNDROME; CASE CONTROL STUDY; CHROMOSOME 11; DNA METHYLATION; GENE FREQUENCY; GENETICS; HETEROZYGOTE; METABOLISM; MUTATION; NUCLEOTIDE MOTIF; PEDIGREE; PHENOTYPE;

BASE SEQUENCE; BECKWITH-WIEDEMANN SYNDROME; BINDING SITES; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; FEMALE; GENE FREQUENCY; GENOMIC IMPRINTING; HETEROZYGOTE; HUMANS; INSULIN-LIKE GROWTH FACTOR II; MALE; MUTATION; NUCLEOTIDE MOTIFS; OCTAMER TRANSCRIPTION FACTOR-3; PEDIGREE; PHENOTYPE; RNA, LONG NONCODING; SEQUENCE DELETION; SOXB1 TRANSCRIPTION FACTORS;

EID: 84911458699     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu290     Document Type: Article

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