Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis

European Journal of Human Genetics

Volumn 18, Issue 1, 2010, Pages 19-25

  Mues, Gabriele ^a   Tardivel, Aubry ^b   Willen, Laure ^b   Kapadia, Hitesh ^a   Seaman, Robyn ^a   Frazier Bowers, Sylvia ^c   Schneider, Pascal ^b   D'Souza, Rena N ^a  

^a TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

Ectodysplasin A mutations; EDAR; functional analysis; selective tooth agenesis

Indexed keywords

ECTODYSPLASIN A; EDAR RECEPTOR; MUTANT PROTEIN; TUMOR NECROSIS FACTOR; EDAR PROTEIN, HUMAN;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DENTITION; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPODONTIA; IN VITRO STUDY; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; RECEPTOR BINDING; SCHOOL CHILD; SEQUENCE HOMOLOGY; SIGNAL TRANSDUCTION; AMINO ACID SEQUENCE; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; TOOTH MALFORMATION;

AMINO ACID SEQUENCE; CELL LINE; CHILD; DNA MUTATIONAL ANALYSIS; ECTODYSPLASINS; EDAR RECEPTOR; FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; TOOTH ABNORMALITIES;

EID: 77449109242     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.127     Document Type: Article

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