| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-80 |
Sentence |
denotes |
A novel missense mutation in the paired domain of human PAX9 causes oligodontia. |
| T2 |
81-184 |
Sentence |
denotes |
PAX9 and MSX1 are transcription factors that play essential roles in craniofacial and limb development. |
| T3 |
185-293 |
Sentence |
denotes |
In humans, mutations in both genes are associated with nonsyndromic and syndromic oligodontia, respectively. |
| T4 |
294-378 |
Sentence |
denotes |
We screened one family with nonsyndromic oligodontia for mutations in PAX9 and MSX1. |
| T5 |
379-547 |
Sentence |
denotes |
Single stranded conformational polymorphism (SSCP) analysis and sequencing revealed a novel heterozygous C139T transition in PAX9 in the affected members of the family. |
| T6 |
548-619 |
Sentence |
denotes |
There were no mutations detected in the entire coding sequence of MSX1. |
| T7 |
620-801 |
Sentence |
denotes |
The C139T mutation, predicted to result in the substitution of an arginine by a tryptophan (R47W) in the N-terminal subdomain, affected conserved residues in the PAX9 paired domain. |
| T8 |
802-1003 |
Sentence |
denotes |
To elucidate the pathogenic mechanism producing oligodontia phenotype caused by this mutation, we analyzed the binding of wild-type and mutant PAX9 paired domain protein to double-stranded DNA targets. |
| T9 |
1004-1157 |
Sentence |
denotes |
The R47W mutation dramatically reduced DNA binding suggesting that the mutant protein with consequent haploinsufficiency results in a clinical phenotype. |
