A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction

Gene

Volumn 359, Issue 1-2, 2005, Pages 44-52

  Masotti, Cibele ^a   Armelin Correa, Lucia M ^a   Splendore, Alessandra ^b   Lin, Chin J ^a   Barbosa, Angela ^a,c   Sogayar, Mari C ^a   Passos Bueno, Maria Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^c INSTITUTO BUTANTAN   (Brazil)

Author keywords

Clinical variability in Treacher Collins syndrome; Functional SNP; Modifier allele; TCOF1 promoter

Indexed keywords

TRANSCRIPTION FACTOR;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA BINDING; DNA FLANKING REGION; GEL MOBILITY SHIFT ASSAY; GENE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; PATIENT; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; SCREENING; SINGLE NUCLEOTIDE POLYMORPHISM; SPECIES IDENTIFICATION; TREACHER COLLINS FRANCESCHETTI SYNDROME GENE;

ALLELES; ANIMALS; BASE SEQUENCE; BINDING, COMPETITIVE; BRAZIL; CELL LINE, TUMOR; DNA MUTATIONAL ANALYSIS; DOGS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENETIC SCREENING; GENETIC VECTORS; HUMANS; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PAN TROGLODYTES; PEDIGREE; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); PROTEIN BINDING; RATS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, NUCLEIC ACID; SPECIES SPECIFICITY; TRANSFECTION; YY1 TRANSCRIPTION FACTOR;

EID: 25144480919     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2005.06.004     Document Type: Article

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