Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes

Journal of Proteome Research

Volumn 11, Issue 12, 2012, Pages 6111-6123

  Gimigliano, Anna ^a   Mannini, Linda ^b   Bianchi, Laura ^a   Puglia, Michele ^a   Deardorff, Matthew A ^c   Menga, Stefania ^b   Krantz, Ian D ^c   Musio, Antonio ^b   Bini, Luca ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b CNR   (Italy)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

2D DIGE; c Myc; cohesion; Cornelia de Lange syndrome; dysregulated protein expression; proteomic profile; SMC1A; SMC3

Indexed keywords

COHESIN; MYC PROTEIN; PROTEIN; SMC1A PROTEIN; SMC3 PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CELL LINE; CONTROLLED STUDY; DE LANGE SYNDROME; DOWN REGULATION; GENE MUTATION; GENOMIC INSTABILITY; HUMAN; OXIDATIVE STRESS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEOMICS;

AMINO ACID SEQUENCE; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CHONDROITIN SULFATE PROTEOGLYCANS; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; FEMALE; GENE EXPRESSION REGULATION; GENOMIC INSTABILITY; HUMANS; MALE; MASS SPECTROMETRY; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; OXIDATIVE STRESS; PHENOTYPE; PHOSPHOPROTEINS; PRIMARY CELL CULTURE; PROTEIN INTERACTION MAPS; PROTEIN STRUCTURE, TERTIARY; PROTEOME; PROTEOMICS; PROTO-ONCOGENE PROTEINS C-MYC; TRANSCRIPTION, GENETIC; TWO-DIMENSIONAL DIFFERENCE GEL ELECTROPHORESIS;

EID: 84870863653     PISSN: 15353893     EISSN: 15353907     Source Type: Journal    
DOI: 10.1021/pr300760p     Document Type: Article

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