Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Human Molecular Genetics

Volumn 18, Issue 3, 2009, Pages 418-427

  Revenkova, Ekaterina ^a   Focarelli, Maria Luisa ^b,c   Susani, Lucia ^b,c   Paulis, Marianna ^b,c   Bassi, Maria Teresa ^d   Mannini, Linda ^b   Frattini, Annalisa ^b,c   Delia, Domenico ^e   Krantz, Ian ^f   Vezzoni, Paolo ^b,c   Jessberger, Rolf ^g   Musio, Antonio ^b,h  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b CNR   (Italy)

^c HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^d SCIENTIFIC INSTITUTE   (Italy)

^e NATIONAL CANCER INSTITUTE   (Italy)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^h ISTITUTO TOSCANO TUMORI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SMC1A; TRANSCRIPTION FACTOR SMC3; UNCLASSIFIED DRUG;

ARTICLE; BINDING AFFINITY; CHROMOSOME SEGREGATION; CONTROLLED STUDY; DE LANGE SYNDROME; DNA BINDING; DNA CROSS LINKING; DNA DETERMINATION; FEMALE; GENETIC ASSOCIATION; GENOMIC INSTABILITY; HUMAN; HUMAN CELL; IONIZING RADIATION; MALE; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DNA INTERACTION; PROTEIN FUNCTION; RADIOSENSITIVITY; SISTER CHROMATID;

CELL CYCLE PROTEINS; CELL LINE; CELLS, CULTURED; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; DNA; DNA DAMAGE; DNA-BINDING PROTEINS; FEMALE; HUMANS; MUTATION; PROTEIN BINDING; PROTEOCHONDROITIN SULFATES;

EID: 58749104967     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn369     Document Type: Article

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