Results 1 to 10 of about 4,591 (213)

Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants [PDF]

Journal of Applied Oral Science, 2023
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, Ya ZHAO, Yunyun YUAN, Jing ZHANG, Yulin DING, Meikang LI, Yilin AN, Wenjing CHEN, Li ZHANG, Boyu LIU, Shushen ZHENG, Wenjing SHEN   +11 more
doaj   +4 more sources

Transcriptional analysis of the human PAX9 promoter [PDF]

Journal of Applied Oral Science, 2010
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, Simone Caixeta de Andrade, Cristiane Pereira Borges Saito, Liza Lima Ramenzoni, Sergio Roberto Peres Line   +4 more
doaj   +5 more sources

PAX9 in Cancer Development

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
exaly   +3 more sources

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.
Jinglei Zheng, Hailan Feng, Yang Liu
exaly   +3 more sources

PAX9 functions as a tumor suppressor gene for cervical cancer via modulating cell proliferation and apoptosis

Kaohsiung Journal of Medical Sciences, 2022
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

The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts [PDF]

Genetics Research , Volume 2026, Issue 1, 2026.
Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the development of the disease. Owing to the high heritability of NSOC, identifying susceptibility genes and loci is a central focus of ...
Haolang Zhao, Sidi Zhang, Haoyun Zhu, Zhonglin Jia, Irfan Ahmad   +4 more
wiley   +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]

Saudi Dental Journal
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, Ali Alaqla, Bader Almuzzaini, Mohammed Aldrees, Ghaida Alnaqa, Farah Almasoud, Seena K. Thomas, Hala Alshamlan   +7 more
doaj   +2 more sources

Tooth agenesis patterns and variants in PAX9: A systematic review

Japanese Dental Science Review, 2023
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, Karn Tongchairati, Kittipat Termteerapornpimol, Soranun Chantarangsu, Thantrira Porntaveetus   +4 more
doaj   +3 more sources

Osr2 acts downstream of Pax9 and interacts with both Msx1 and Pax9 to pattern the tooth developmental field

Developmental Biology, 2011
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 ...
Zhaoyang Liu, Yu Lan, Rulang Jiang
exaly   +3 more sources

Understanding the implications of the PAX9 Gene in tooth development [PDF]

European journal of paediatric dentistry, 2011
Tooth agenesis is characterised by the congenital absence of one or more teeth. The Pax9 gene has been associated with nonsyndromic forms.To investigate the molecular mechanisms, we evaluated specific haplotypes frequency in exon 3 of the Pax9 gene in 26 patients and 21 controls, using an Italian population.Presence of His239His and the Ala240Pro were ...
Arcuri, C, Muzzi, F, Panetta, V, Santini, F, Squitti, R, Zito, I   +5 more
core   +4 more sources