Functional analysis of novel mutations in PAX9 associated with familial oligodontia

Chinese Journal of Medical Genetics

Volumn 22, Issue 4, 2005, Pages 419-422

  Zhao, Ji Lin ^a   Chen, Yang Xi ^a   Bao, Lang ^b   Wu, Tuo Jiang ^a   Zhou, Li ^a  

^a SICHUAN UNIVERSITY   (China)

^b SICHUAN UNIVERSITY   (China)

Author keywords

Gene mutation; Oligodontia; PAX9 gene

Indexed keywords

CYTOSINE; DOUBLE STRANDED DNA; PAX9PD PROTEIN; PROTEIN; THYMINE; UNCLASSIFIED DRUG;

ARTICLE; DENTITION; DNA BINDING; FAMILIAL DISEASE; GEL MOBILITY SHIFT ASSAY; GENE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; GENE TARGETING; HUMAN; OLIGODONTIA; PATHOGENESIS; PAX9 GENE; PERIODONTAL DISEASE; PLASMID; POLYMERASE CHAIN REACTION;

ANODONTIA; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FAMILY HEALTH; HUMANS; MUTATION; PAX9 TRANSCRIPTION FACTOR; POLYMERASE CHAIN REACTION;

EID: 23844556442     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Stockton DW, Das P, Goldenberg M, et al. Mutation of PAX9 is associated with oligodontia. Nat Genet, 2000, 24:18-19.
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5. Jumlongras D, Lin JY, Chapra A, et al. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Hum Genet, 2004, 114:242-249.
6. Mensah JK, Ogawa T, Kapadia H, et al. Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. J Biol Chem, 2004, 279:5924-5933.