Recombinant Human Paired box protein Pax-9 (PAX9)

1. focus on associations between mutations in PAX9 and occurrence of congenitally missing teeth and/or other variations in human teeth (review). PMID: 28155232
2. low expression levels of PAX9 were significantly associated with poor survival in ESCC patients following surgery. PAX9 may be an independent prognostic factor for ESCC patient survival. PMID: 28560390
3. Study highlights PAX9 as a novel marker of prognostication in chronic lymphocytic leukemia as its expression was significantly associated with high risk of treatment initiation, shorter time to first treatment and overall survival. PMID: 28572861
4. in vitro functional analysis creating PAX9 minigene construct did apparently show no effect on the splice-site migration. It is therefore proposed that haploinsufficiency of PAX9 is the causal factor for tooth agenesis in this family. PMID: 28847717
5. Statistically significant relations were found between detected 22 variations in PAX9 gene and tooth size and were detected in which 18 of them are novel. PMID: 28040065
6. The AG and GG genotypes at rs2073244 and the CC genotype at rs4904210 may strengthen the association between cytomegalovirus infection and low birth weight. PMID: 26333297
7. results demonstrate a new initiation codon mutation in the PAX9 gene; this mutation probably caused the oligodontia in the investigated Chinese family through haplo-insufficiency PMID: 26571067
8. previously unknown heterozygous g.9527G>T mutation in the PAX9 gene in monozygotic twins with oligodontia & 3 additional affected family members. mutation is located in intron 2, splice site between exon 2 and intron 2. PMID: 25683653
9. A direct effect of rs12882923 and rs12883049 polymorphisms on the dental agenesis was excluded. PMID: 26707046
10. analysis provided evidence for gene-gene interaction between FGF3 (rs4980700) and PAX9 (rs2073242), increasing risk for isolated oral clefts (p = 0.0003). FGF3 is associated with oral clefts and may interact with PAX9. PMID: 24697712
11. The meta-analysis results revealed 4 genetic sites of the PAX9 gene involved in hypodontia cases. PMID: 25501211
12. Probably other genes can determine phenotypical patterns of dental agenesis in the families studied, different than the ones described in the mutations of PAX9 PMID: 24316698
13. Polymorphisms in the promoter region of PAX9 gene may have an influence on the transcriptional factors and activity of this gene. PMID: 24160254
14. Identification of novel mutations in the paired domain of PAX9 in two unrelated Japanese patients with sporadic non-syndromic oligodontia. PMID: 24436340
15. Family study; 11 yr old male proband + relatives confirming a frameshift mutation in a family with autosomal-dominant hypodontia. PMID: 24028587
16. The genotype/phenotype correlation in congenital anodontia cannot be verified, as there was only one pedigree analyzed PMID: 23857653
17. mutations in this gene have been associated with non-syndromic tooth agenesis PMID: 22747565
18. A family with tooth agenesis had a homozygous point mutation at the 718 position (G to C) in exon 3 (a nonpaired domain) of PAX9. PMID: 19641755
19. A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser) causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile) causing hypodontia were identified and correlated with the phenotypic presentations in the family. PMID: 23227268
20. Common variants in PAX9 contributed to morphological variation in permanent teeth in humans. PMID: 22810112
21. The SNP rs7142363 in the PAX9 gene contributes to nonsyndromic cleft lip/palate. PMID: 22976623
22. Two novel missense mutations in Chinese families causing oligodontia: Leu27Pro (L27P) and Ile29Thr (I29T) in the paired-domain of PAX9. Analysis of homologous PAX proteins indicated that these two substitutions may affect the function of the PAX9 protein. PMID: 22277187
23. reduced transcriptional activity of the novel nonsense codon mutated PAX9 protein suggested that the severe phenotype may result from haploinsufficiency of PAX9. PMID: 22058014
24. findings may imply that the PAX9 A240P mutation is a risk factor for oligodontia in the Chinese population. PMID: 21530942
25. Pax9hapl a may have a protective effect against sporadic oligodontia PMID: 22185249
26. A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia. PMID: 21443745
27. Common variants located out of the DNA binding domain of the PAX9 gene can be related to tooth agenesis. PMID: 21111400
28. a set of variants in PAX9 and 101 other genes related with dentition can define at least some dental morphological differences between Sub-Saharan Africans and non-Africans, probably associated with adaptations after the modern human exodus from Africa. PMID: 21298044
29. This study describes how the same mutation is responsible for a form of dental agenesis--less severe in the number of missing teeth--leading to hypodontia instead of oligodontia. Mutations of the same gene cause different phenotypes. PMID: 21434731
30. 322insG mutation causes insufficient function of PAX9 protein and haploinsufficiency as a genetic model of familial non-syndromic oligodontia PMID: 21098475
31. A polymorphism in the PAX9 gene was detected in individuals with maxillary lateral incisor agenesis, the frequency of which was not, however, statistically different from that in the control population. PMID: 20660504
32. investigation of transcriptional activity of specific regions of promoter region of PAX9 gene: sequences present between -1106 and +92 are important for expression of PAX9 PMID: 20941745
33. mutations of the PAX9 gene may represent polymorphism associated with sporadic oligodontia PMID: 20618716
34. The findings in this patient illustrate the role of the PAX9 gene in tooth development and provide the first example of a de novo deletion of 14q13.3 manifesting primarily with oligodontia. PMID: 20485064
35. Families with a posterior pattern of tooth agenesis showed changes in the PAX9 gene. PMID: 19816326
36. Smaller tooth crown dimensions recorded in the affected family members show that the effect of the PAX9 mutation is seen not only in the congenitally missing teeth but also in smaller crown size throughout the dentition. PMID: 18653171
37. haploinsufficiency is associated with autosomal dominant hypodontia PMID: 11941488
38. Report a case of erroneous direct sequencing, in which a single nucleotide polymorphism (SNP) in the human PAX9 gene was mistyped due to allele-dependent PCR amplification. PMID: 12107448
39. BF-1 and PAX9 interact with PLU-1 via a novel conserved sequence motif (Ala-X-Ala-Ala-X-Val-Pro-X4-Val-Pro-X8-Pro, termed the VP motif) PMID: 12657635
40. G151A transition might be responsible for sporadic form of tooth agenesis PMID: 12786960
41. There was a significant reduction in PAX9 expression in fetuses with the Jarcho-Levin syndrome. PMID: 12833407
42. PAX9 has a role in tooth development in humans PMID: 14607846
43. A missense mutation in the paired domain of PAX9 causes non-syndromic anodontia. PMID: 14689302
44. mutation of the initiation codon causes oligodontia PMID: 15615874
45. The functional defects in DNA binding of mutant 109(InsG) PAX9 and 139(C--> T) PAX9, as well as loss-of-function of PAX9 most likely result in its haploinsufficiency during the patterning of dentition and the subsequent loss of posterior teeth. PMID: 16086281
46. Sequencing of PAX9 gene revealed a novel frameshift mutation and a novel missense mutation in Chinese patients with oligodontia. PMID: 16191360
47. Mutations in PAX9 constitute a causative factor in nonsyndromic oligodontia. PMID: 16333316
48. Ile87Phe protein shows that both wild-type and mutant proteins are synthesized in mammalian cells and that the mutation does not alter the nuclear localization of the mutant protein in a family with molar oligodontia. PMID: 16479262
49. calcitonin gene expression could be directly activated by Nkx2.1, whereas Pax9 is not involved in transcription from the 2kbp calcitonin promoter PMID: 17412341
50. A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. PMID: 17697174

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HGNC: 8623

OMIM: 167416

KEGG: hsa:5083

STRING: 9606.ENSP00000355245

UniGene: Hs.132576