The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

Human Molecular Genetics

Volumn 22, Issue 3, 2013, Pages 544-557

  Beygo, Jasmin ^a   Citro, Valentina ^b,c   Sparago, Angela ^c,d   De crescenzo, Agostina ^c   Cerrato, Flavia ^c   Heitmann, Melanie ^a   Rademacher, Katrin ^a   Guala, Andrea ^e   Enklaar, Thorsten ^f   Anichini, Cecilia ^g   Cirillo silengo, Margherita ^h   Graf, Notker ⁱ   Prawitt, Dirk ^f   Cubellis, Maria Vittoria ^b   Horsthemke, Bernhard ^a   Buiting, Karin ^a   Riccio, Andrea ^c,d  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c SECOND UNIVERSITY OF NAPLES   (Italy)

^d INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^e Ospedale Castelli   (Italy)

^f UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^g UNIVERSITY OF TURIN   (Italy)

^h UNIVERSITY OF SIENA   (Italy)

ⁱ Zentrum für Reproduktionsmedizin und Humangenetik   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; SOMATOMEDIN B; TRANSCRIPTION FACTOR CTCF;

ALLELE; ARTICLE; BINDING SITE; CELL CULTURE; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; DNA METHYLATION; FEMALE; GENE DELETION; GENE FUNCTION; GENE INACTIVATION; GENE SEQUENCE; GENOME IMPRINTING; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; WILD TYPE;

ALLELES; BINDING SITES; CELLS, CULTURED; CHROMATIN IMMUNOPRECIPITATION; CHROMOSOMES, HUMAN, PAIR 11; DNA METHYLATION; GENE DELETION; GENE EXPRESSION REGULATION; GENE SILENCING; GENETIC LOCI; GENOMIC IMPRINTING; HUMANS; INSULIN-LIKE GROWTH FACTOR II; PEDIGREE; PHENOTYPE; REPRESSOR PROTEINS; RNA, LONG UNTRANSLATED; SEQUENCE ANALYSIS, DNA;

EID: 84872373720     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds465     Document Type: Article

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