ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression

Human Molecular Genetics

Volumn 21, Issue 7, 2012, Pages 1639-1647

  Shoubridge, Cheryl ^a,b   Tan, May Huey ^a,b   Seiboth, Grace ^a   Gécz, Jozef ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARISTALESS RELATED HOMEOBOX PROTEIN; DNA; HOMEODOMAIN PROTEIN; LUCIFERASE; LYSINE; PROLINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LMO1; TRANSCRIPTION FACTOR SHOX2; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN MALFORMATION; CHROMATIN IMMUNOPRECIPITATION; CONTROLLED STUDY; DISEASE SEVERITY; DNA BINDING; GEL MOBILITY SHIFT ASSAY; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GENE OVEREXPRESSION; GENE REPRESSION; GENE TARGETING; HUMAN; HUMAN CELL; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; REAL TIME POLYMERASE CHAIN REACTION; REPORTER GENE; TRANSCRIPTION INITIATION; WILD TYPE; X LINKED INFANTILE SPASM WITH INTELLECTUAL DISABILITY;

ACTIVE TRANSPORT, CELL NUCLEUS; CELL NUCLEUS; DNA; DNA-BINDING PROTEINS; HEK293 CELLS; HOMEODOMAIN PROTEINS; HUMANS; LIM DOMAIN PROTEINS; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; REPRESSOR PROTEINS; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 84858228881     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr601     Document Type: Article

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