Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders

Journal of Biochemistry

Volumn 140, Issue 4, 2006, Pages 491-499

  Yokoyama, Satoru ^a   Takeda, Kazuhisa ^a   Shibahara, Shigeki ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Auditory pigmentary disorder; EDNRB; MITF; SOX10; Sp1

Indexed keywords

ENDOTHELIN B RECEPTOR; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MUTANT PROTEIN; PROTEIN 428INS6; PROTEIN E189X; PROTEIN Q377X; PROTEIN S135T; TRANSCRIPTION FACTOR SOX10; TRANSCRIPTION FACTOR SP1;

ARTICLE; DISEASE CLASSIFICATION; HUMAN; HUMAN CELL; MEGACOLON; PHENOTYPIC VARIATION; PROMOTER REGION; PROTEIN FUNCTION; SYNDROME; WAARDENBURG SYNDROME; YEMENITE DEAF BLIND HYPOPIGMENTATION SYNDROME;

ANIMALS; CELL LINE, TUMOR; COLOBOMA; DEAFNESS; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION; HIGH MOBILITY GROUP PROTEINS; HUMANS; HYPOPIGMENTATION; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MUTATION; PROMOTER REGIONS (GENETICS); RECEPTOR, ENDOTHELIN B; SP1 TRANSCRIPTION FACTOR; SYNDROME; TRANS-ACTIVATION (GENETICS); TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 33845304972     PISSN: 0021924X     EISSN: None     Source Type: Journal    
DOI: 10.1093/jb/mvj177     Document Type: Article

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