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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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PAX9 mutations and genetic synergism in familial tooth agenesis
Annals of the New York Academy of Sciences, 2023Abstract Familial tooth agenesis (FTA) is one of the most common craniofacial anomalies in humans. Loss‐of‐function mutations in PAX9 and WNT10A have been known to cause FTA with various expressivity.
Kuan‐Yu Chu +9 more
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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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Pax1 and Pax9 synergistically regulate vertebral column development
Development, 1999Abstract The paralogous genes Pax1 and Pax9 constitute one group within the vertebrate Pax gene family. They encode closely related transcription factors and are expressed in similar patterns during mouse embryogenesis, suggesting that Pax1 and Pax9 act in similar developmental pathways.
Peters H +5 more
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Novel PAX9 Mutations Cause Non-syndromic Tooth Agenesis
Journal of Dental Research, 2014PAX9 is a transcription factor expressed in the tooth mesenchyme during tooth morphogenesis. In Pax9-null mice, tooth development is arrested at the bud stage. In humans, heterozygous mutations in PAX9 have been associated with non-syndromic tooth agenesis, predominantly in the molars.
S N, Mitsui +6 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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A Novel Mutation in Human PAX9 Causes Molar Oligodontia
Journal of Dental Research, 2002Experimental and animal studies, as well as genetic mutations in man, have indicated that the development of dentition is under the control of several genes. So far, mutations in MSX1 and PAX9 have been associated with dominantly inherited forms of human tooth agenesis that mainly involve posterior teeth.
S A, Frazier-Bowers +7 more
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Pax genes and organogenesis: Pax9 meets tooth development
European Journal of Oral Sciences, 1998Pax 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 pancreas. Whereas the developmental roles of many of the nine known Pax genes have been analyzed in great detail, a ...
Peters, Heiko +2 more
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Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia
Human Genetics, 2002We recently identified a frame-shift mutation in the PAX9 gene as the underlying cause for hypodontia involving permanent molar teeth segregating in an autosomal dominant pattern in a single large family (Stockton et al. 2000). Here we report a small nuclear family in which a father and his daughter are affected with severe hypodontia, involving ...
Parimal, Das +6 more
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Paired box 9 (PAX9) is one of the best‐known transcription factors involved in the development of human dentition. Mutations in PAX9 gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental ...
O. Bonczek, V.J. Balcar, O. Šerý
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