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The prevalence of dental agenesis, supernumerary teeth and odontoma in a Chinese paediatric population: an epidemiological study. [PDF]
Shen Z, Wei J, Zhang J, Zhang Y, Yao J.
europepmc +1 more source
Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis. [PDF]
Samarkhanova D, Zhabagin M, Nadirov N.
europepmc +1 more source
Developmental gene expression in skull-base chordomas and chondrosarcomas. [PDF]
Vanderheijden C +6 more
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Paired box 9 (PAX9) is a transcription factor of the PAX family functioning as both a transcriptional activator and repressor. Its functional roles in the embryonic development of various tissues and organs have been well studied. However, its roles and molecular mechanisms in cancer development are largely unknown.
Xiaoxin Chen +2 more
exaly +4 more sources
Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns
The purpose of this research was to investigate and identify PAX9 gene variants in four Chinese families with non-syndromic tooth agenesis. We identified pathogenic gene variants by whole-exome sequencing (WES) and Sanger sequencing and then studied the effects of these variants on function by bioinformatics analysis and in vitro experiments.
Hangbo Liu +2 more
exaly +4 more sources
Mammalian tooth development depends on activation of odontogenic potential in the presumptive dental mesenchyme by the Msx1 and Pax9 transcription factors. We recently reported that the zinc finger transcription factor Osr2 was expressed in a lingual-to-buccal gradient pattern surrounding the developing mouse molar tooth germs and mice lacking Osr2 ...
Zunyi Zhang +2 more
exaly +4 more sources
Pax genes and organogenesis: Pax9 meets tooth development
peer reviewedPax genes encode a family of transcription factors that play key roles during embryogenesis. They are required for the development of a variety of organs including the nervous and muscular system, skeleton, eye, ear, kidney, thymus, and ...
Annette Neubüser +2 more
exaly +2 more sources
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Mutation of PAX9 is associated with oligodontia
Nature Genetics, 2000We identified a frameshift mutation in the paired domain of PAX9 following genome-wide analysis of a family segregating autosomal dominant oligodontia. Affected members have normal primary dentition but lacked most permanent molars.
D W, Stockton +4 more
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Mutations in the PAX9 gene in sporadic oligodontia
Orthodontics & Craniofacial Research, 2010Oligodontia, a congenital lack of six or more teeth, is often associated with mutations in the PAX9 gene; therefore, we searched for mutations in this gene.In the present work, we sequenced fragments of the PAX9 gene in individuals with sporadic oligodontia. Next, we genotyped some mutations we found in patients with oligodontia and individuals without
Janik-Papis, Katarzyna +2 more
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A novel PAX9 mutation causing oligodontia
Archives of Oral Biology, 2017An extended family presenting with several members affected by developmentally missing teeth was investigated by analysis of the MSX1 and PAX9 genes.Saliva samples were collected and DNA extracted. Primers were designed to span the exons and intron-exon junctions of the MSX1 and PAX9 genes.
Eiman Mohammed, Daw +3 more
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