Benchmarking of Approaches for Gene Copy-Number Variation Analysis and Its Utility for Genetic Aberration Detection in High-Grade Serous Ovarian Carcinomas. [PDF]
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Evolution of cetacean-specific conserved non-coding elements suggests their role in the limb changes during secondary aquatic adaptation. [PDF]
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Developmental gene expression in skull-base chordomas and chondrosarcomas. [PDF]
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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.
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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.
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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,
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