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International Journal of Molecular Sciences, 2022 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, Heiko Peters, Ralf Kist
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Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns
International Journal of Molecular Sciences, 2022 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.
Miao Yu, Dong Han, Hailan Feng
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The phenotype and genotype of PAX9 mutations causing tooth agenesis
Clinical Oral Investigations, 2023The purpose of this study was to identify associations between PAX9 mutations and clinical features of non-syndromic tooth agenesis patients.Non-syndromic tooth agenesis patients were found to have mutations by whole exome sequencing (WES). Additionally, conservation analysis and three-dimensional structure prediction were also applied to identify ...
Cailing, Jiang +5 more
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Mutations in the PAX9 gene in sporadic oligodontia
Orthodontics and 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
Tomasz Poplawski
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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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Identification of a nonsense mutation in the PAX9 gene in molar oligodontia [PDF]
European Journal of Human Genetics, 2001 Development of dentition is controlled by numerous genes, as has been shown by experimental animal studies and mutations that have been identified by genetic studies in man. Here we report a nonsense mutation in the PAX9 gene that is associated with molar tooth agenesis in a Finnish family. The A340T transversion creates a stop codon at lysine 114, and
Pekka Nieminen +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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Studies on Pax9–Msx1 protein interactions
Archives of Oral Biology, 2005Pax9 belongs to the Pax family of transcriptional regulators that are defined by a highly conserved DNA-binding region, the paired domain. Drosophila, mouse and human genetics have shown that Pax proteins play multiple roles in tissue patterning and organogenesis by mediating their functions in a highly tissue-specific manner. Members of the Pax family,
Takuya, Ogawa +3 more
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2008
Abstract The most common abnormality affecting the formation of the dentition is deviation from the usual number of the human permanent dentition (a total of 32 teeth in both jaws) or the deciduous dentition (20 total teeth in both jaws).
Pragna I Patel, Donald T Brown
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Abstract The most common abnormality affecting the formation of the dentition is deviation from the usual number of the human permanent dentition (a total of 32 teeth in both jaws) or the deciduous dentition (20 total teeth in both jaws).
Pragna I Patel, Donald T Brown
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Novel missense mutations in PAX9 causing oligodontia
Archives of Oral Biology, 2012We investigated the disease-causing gene of oligodontia in Chinese families and analysed the pathogenesis of mutations of this gene that results in oligodontia.Two families with oligodontia, but of different descent and 100 unrelated healthy controls were enrolled in our study. Genomic DNA was isolated from blood samples.
Jia, Liang +3 more
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