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
exaly +4 more sources
Transcriptional analysis of the human PAX9 promoter [PDF]
OBJECTIVES: PAX9 belongs to the Pax family of transcriptional factor genes. This gene is expressed in embryonic tissues such as somites, pharyngeal pouch endoderm, distal limb buds and neural crest-derived mesenchyme.
Carolina Vieira de Almeida +4 more
doaj +7 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.
Miao Yu, Jinglei Zheng, Dong Han
exaly +4 more sources
Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants [PDF]
Studies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective To report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype ...
Jiabao REN +11 more
doaj +5 more sources
To investigate the effect of PAX9 on the progression of cervical cancer (CC). PAX9 expression was quantified in CC tissues and adjacent normal tissues, as well as human CC cell lines and human cervical epithelial cells (HCerEpiC).
Chun-Xiao Zhang
exaly +2 more sources
Tooth agenesis patterns and variants in PAX9: A systematic review
Mutations in PAX9 are the most common genetic cause of tooth agenesis (TA). The aim of this study was to systematically review the profiles of the TA and PAX9 variants and establish their genotype-phenotype correlation.
Narin Intarak +4 more
doaj +3 more sources
A Combination of Variants in SEPTIN9 and MSX1 Genes Leads to the Formation of Orofacial Clefts. [PDF]
Double‐depleted Xenopus embryos of xMSX1 and xSEPTIN9 exhibited orofacial clefts, and wild‐type but not variants in human MSX1 and human SEPTIN9 mRNAs could rescue the phenotype of morphants, indicating that variants in MSX1 and SEPTIN9, each individually tolerated, synergistically disrupt craniofacial morphogenesis to cause orofacial clefts.
Uuganbayar U +13 more
europepmc +2 more sources
Unlocking predictive genetic factors with artificial intelligence: relationship between dental impaction and hypodontia evaluated via association-rule algorithms: a case–control study [PDF]
Artificial intelligence (AI)-driven genetic analysis is crucial for the advancement of personalized dental treatments. Despite progress in genetic research, its clinical application remains limited.
Nora Alhazmi +7 more
doaj +2 more sources
Chromatin Remodeller BRD9 Orchestrates Odontoblastic Differentiation via Coordinating RUNX2-KLF4. [PDF]
During odontoblast lineage commitment, the chromatin remodeller BRD9 acts as a critical epigenetic coordinator, orchestrating the chromatin landscape to facilitate synergistic binding of key transcription factors RUNX2 and KLF4 to target loci for odontogenesis.
Zeng W +8 more
europepmc +2 more sources
Genetic architecture of craniofacial morphogenesis: roles of PAX3, PAX7, and PAX9 [PDF]
Craniofacial morphogenesis is a highly coordinated developmental process governed by complex genetic and molecular interactions. Among these, the PAX family of transcription factors plays a pivotal role in the regulation of neural crest specification ...
Kun Wang +12 more
doaj +2 more sources

