Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate

Human Genetics

Volumn 134, Issue 2, 2015, Pages 147-158

  Fu, Xiazhou ^a   Cheng, Yibin ^a   Yuan, Jia ^a   Huang, Chunhua ^a   Cheng, Hanhua ^a   Zhou, Rongjia ^a  

^a WUHAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE; T BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR ETS 1; TRANSCRIPTION FACTOR TBX22; UNCLASSIFIED DRUG; ETS1 PROTEIN, HUMAN; TBX22 PROTEIN, HUMAN;

ADULT; ARTICLE; BINDING SITE; CHROMATIN IMMUNOPRECIPITATION; CLEFT PALATE; CLINICAL ARTICLE; COS 7 CELL LINE; FEMALE; GEL MOBILITY SHIFT ASSAY; GENETIC TRANSFECTION; HETEROZYGOTE; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MALE; PHENOTYPE; PHYLOGENY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; CLINICAL TRIAL; DNA RESPONSIVE ELEMENT; FAMILY; GENE DELETION; GENETICS; HEK293 CELL LINE; INFANT; METABOLISM; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKED DISORDER;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; CLEFT PALATE; FAMILY; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HEK293 CELLS; HUMANS; INFANT; MALE; MIDDLE AGED; PEDIGREE; PHYLOGENY; PROTO-ONCOGENE PROTEIN C-ETS-1; RESPONSE ELEMENTS; SEQUENCE DELETION; T-BOX DOMAIN PROTEINS;

EID: 84925535759     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-014-1503-8     Document Type: Article

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