Functional analysis of natural mutations in two TWIST protein motifs

Human Mutation

Volumn 25, Issue 6, 2005, Pages 550-556

  Funato, Noriko ^a   Twigg, Stephen R F ^b   Higashihori, Norihisa ^a   Ohyama, Kimie ^a   Wall, Steven A ^c   Wilkie, Andrew O M ^b,c,d   Nakamura, Masataka ^a  

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c Raddiffe Infirmary   (United Kingdom)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

CDKN1A (p21 WAF1 CIP1); Craniosynostosis; Nuclear localization signal; Polymorphism; Saethre Chotzen syndrome; TWIST1

Indexed keywords

ALANINE; GLYCINE; TRANSCRIPTION FACTOR TWIST;

ACROCEPHALOSYNDACTYLY; ARTICLE; CRANIOFACIAL SYNOSTOSIS; EMBRYO DEVELOPMENT; GENE MUTATION; HUMAN; INVERTEBRATE; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN MOTIF; PROTEIN VARIANT; STRUCTURE ACTIVITY RELATION; TRANSCRIPTION REGULATION; VERTEBRATE;

AMINO ACID MOTIFS; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; CYCLIN-DEPENDENT KINASE INHIBITOR P21; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR LOCALIZATION SIGNALS; NUCLEAR PROTEINS; P300-CBP TRANSCRIPTION FACTORS; PROMOTER REGIONS (GENETICS); PROMOTER REGIONS, GENETIC; TRANS-ACTIVATION (GENETICS); TRANSCRIPTIONAL ACTIVATION; TWIST TRANSCRIPTION FACTOR;

INVERTEBRATA; VERTEBRATA;

EID: 20344378714     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20176     Document Type: Article

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