Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2004-8-26
pubmed:abstractText
In this study, we sought to determine the association between tooth agenesis and DNA sequence variation in the genes MSX1 and PAX9 in an ethnically diverse human population. Since cleft lip/palate is also associated with both tooth agenesis and the gene TGFA, we included TGFA in the analysis as well. Cheek swab samples were obtained for DNA analysis from 116 case/parent trios. Probands had at least one developmentally missing tooth, excluding third molars. Genotyping was performed by single-strand conformational polymorphism or kinetic polymerase chain-reaction assays. Transmission distortion of the marker alleles and DNA sequence analysis was performed. Results showed that tooth agenesis is associated with markers of the genes MSX1 and TGFA. No mutations were found in MSX1 or PAX9 coding regions. There were statistically significant data suggesting that MSX1 interacts with PAX9. These findings suggest that MSX1, PAX9, and TGFA play a role in isolated dental agenesis.
pubmed:grant
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
D
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0022-0345
pubmed:author
pubmed:issnType
Print
pubmed:volume
83
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
723-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:15329380-Adolescent, pubmed-meshheading:15329380-Adult, pubmed-meshheading:15329380-Alleles, pubmed-meshheading:15329380-Anodontia, pubmed-meshheading:15329380-Base Pairing, pubmed-meshheading:15329380-Child, pubmed-meshheading:15329380-DNA-Binding Proteins, pubmed-meshheading:15329380-Exons, pubmed-meshheading:15329380-Female, pubmed-meshheading:15329380-Genetic Markers, pubmed-meshheading:15329380-Genotype, pubmed-meshheading:15329380-Haplotypes, pubmed-meshheading:15329380-Homeodomain Proteins, pubmed-meshheading:15329380-Humans, pubmed-meshheading:15329380-Introns, pubmed-meshheading:15329380-MSX1 Transcription Factor, pubmed-meshheading:15329380-Male, pubmed-meshheading:15329380-Middle Aged, pubmed-meshheading:15329380-PAX9 Transcription Factor, pubmed-meshheading:15329380-Polymerase Chain Reaction, pubmed-meshheading:15329380-Polymorphism, Single-Stranded Conformational, pubmed-meshheading:15329380-Sequence Analysis, DNA, pubmed-meshheading:15329380-Transcription Factors, pubmed-meshheading:15329380-Transforming Growth Factor alpha
pubmed:year
2004
pubmed:articleTitle
MSX1, PAX9, and TGFA contribute to tooth agenesis in humans.
pubmed:affiliation
Department of Pediatrics, University of Iowa, Iowa City 52242-1083, USA. alexandre-vieira@uiowa.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.