Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia

European Journal of Human Genetics

Volumn 19, Issue 8, 2011, Pages 844-850

  Kamamoto, Munefumi ^a,b   MacHida, Junichiro ^a   Yamaguchi, Seishi ^a,b   Kimura, Masashi ^a,b   Ono, Takao ^c   Jezewski, Peter A ^d   Higashi, Yujiro ^b   Nakayama, Atsuo ^b   Shimozato, Kazuo ^a   Tokita, Yoshihito ^b  

^a AICHI GAKUIN UNIVERSITY   (Japan)

^b INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^c RIKEN   (Japan)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; SERINE; TRANSCRIPTION FACTOR MSX1; TRANSCRIPTION FACTOR PAX9;

ADULT; AGENESIS; ALLELE; ANIMAL CELL; ARTICLE; CLEFT FACE; CLEFT PALATE; CODON; COHORT ANALYSIS; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE ACTIVITY; GENE FREQUENCY; GENE FUNCTION; GENE REPRESSION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPODONTIA; IN VITRO STUDY; JAPANESE; MALE; MOLAR TOOTH; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN DETERMINATION; TOOTH; UNILATERAL CLEFT LIP;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; ANODONTIA; ASIAN CONTINENTAL ANCESTRY GROUP; CELL NUCLEUS; DINUCLEOTIDE REPEATS; FEMALE; HUMANS; JAPAN; MALE; MOLECULAR SEQUENCE DATA; MSX1 TRANSCRIPTION FACTOR; MYOD PROTEIN; PEDIGREE; PENETRANCE; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC; SEQUENCE ALIGNMENT; SMOKING;

EID: 79960618944     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.47     Document Type: Article

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