PAX9

Summary

Gene Symbol: PAX9
Description: paired box 9
Alias: STHAG3, paired box protein Pax-9, paired domain gene 9
Species: human
Products:     PAX9

Top Publications

  1. Hetzer Egger C, Schorpp M, Boehm T. Evolutionary conservation of gene structures of the Pax1/9 gene family. Biochim Biophys Acta. 2000;1492:517-21 pubmed
    Based on amino acid sequence comparisons, Pax1 and Pax9 genes are considered to form a subgroup of vertebrate Pax genes...
  2. Kapadia H, Frazier Bowers S, Ogawa T, D Souza R. Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis. Eur J Hum Genet. 2006;14:403-9 pubmed
    Autosomal dominant mutations in the gene encoding the paired box containing transcription factor PAX9 are associated with nonsyndromic human tooth agenesis that primarily affect posterior dentition...
  3. Tallon Walton V, Manzanares Céspedes M, Arte S, Carvalho Lobato P, Valdivia Gandur I, Garcia Susperregui A, et al. Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies. Eur J Oral Sci. 2007;115:427-32 pubmed
    ..The previously undescribed PAX9 mutation was observed in the paired box (exon 2); this was a heterozygote transition of C175 to T, implying the ..
  4. Wang J, Jian F, Chen J, Wang H, Lin Y, Yang Z, et al. Sequence analysis of PAX9, MSX1 and AXIN2 genes in a Chinese oligodontia family. Arch Oral Biol. 2011;56:1027-34 pubmed publisher
    ..genetic mutations in nonsyndromic oligodontia in a Chinese family and to gain insight into the role of mutations of PAX9, MSX1 and AXIN2 in oligodontia phenotypes...
  5. Hansen L, Kreiborg S, Jarlov H, Niebuhr E, Eiberg H. A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. Eur J Oral Sci. 2007;115:330-3 pubmed
    ..Analyses of PAX9 and MSX1 in nine families with hypodontia and oligodontia revealed one new PAX9 mutation. A LOD score of Z = 1...
  6. Stockton D, Das P, Goldenberg M, D Souza R, Patel P. Mutation of PAX9 is associated with oligodontia. Nat Genet. 2000;24:18-9 pubmed
  7. Mensah J, Ogawa T, Kapadia H, Cavender A, D Souza R. Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans. J Biol Chem. 2004;279:5924-33 pubmed
    b>Pax9 is a paired domain-containing transcription factor that plays an essential role in the patterning of murine dentition...
  8. Klein M, Nieminen P, Lammi L, Niebuhr E, Kreiborg S. Novel mutation of the initiation codon of PAX9 causes oligodontia. J Dent Res. 2005;84:43-7 pubmed
    ..Several studies have shown that MSX1 and PAX9 play a role in early tooth development...
  9. Ogawa T, Kapadia H, Feng J, Raghow R, Peters H, D Souza R. Functional consequences of interactions between Pax9 and Msx1 genes in normal and abnormal tooth development. J Biol Chem. 2006;281:18363-9 pubmed
    b>Pax9 and Msx1 encode transcription factors that are known to be essential for the switch in odontogenic potential from the epithelium to the mesenchyme...

More Information

Publications117 found, 100 shown here

  1. Pan Y, Wang L, Ma J, Zhang W, Wang M, Zhong W, et al. PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case-control study in southeast China. Eur J Oral Sci. 2008;116:98-103 pubmed publisher
    Tooth agenesis is one of the most common developmental disorders in humans. The PAX9 gene, which plays an important role in odontogenesis, is associated with familial and sporadic tooth agenesis...
  2. Wang Y, Wu H, Wu J, Zhao H, Zhang X, Mues G, et al. Identification and functional analysis of two novel PAX9 mutations. Cells Tissues Organs. 2009;189:80-7 pubmed publisher
    The paired-domain transcription factor PAX9 plays a critical role in tooth development, as heterozygous mutations in PAX9 have been shown to be associated with human tooth agenesis...
  3. Wang Y, Groppe J, Wu J, Ogawa T, Mues G, D Souza R, et al. Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9. Hum Mol Genet. 2009;18:2863-74 pubmed publisher
    Mutations in the paired-domain transcription factor PAX9 are associated with non-syndromic tooth agenesis that preferentially affects posterior dentition...
  4. Paixão Côrtes V, Braga T, Salzano F, Mundstock K, Mundstock C, Bortolini M. PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis. Arch Oral Biol. 2011;56:337-44 pubmed publisher
    The molecular variation of paired domain box gene 9 (PAX9) was previously investigated by our research group and a high degree of evolutionary conservation in coding and non-coding regions was observed except in exon 3...
  5. Paixão Côrtes V, Meyer D, Pereira T, Mazieres S, Elion J, Krishnamoorthy R, et al. Genetic variation among major human geographic groups supports a peculiar evolutionary trend in PAX9. PLoS ONE. 2011;6:e15656 pubmed publisher
    ..nine South Amerindian, three African and one Eskimo populations were studied in relation to the Paired box gene 9 (PAX9) exon 3 (138 base pairs) as well as its 5'and 3'flanking intronic segments (232 bp and 220 bp, respectively) and ..
  6. Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, et al. Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. Eur J Hum Genet. 2001;9:743-6 pubmed
    ..Here we report a nonsense mutation in the PAX9 gene that is associated with molar tooth agenesis in a Finnish family...
  7. Lammi L, Halonen K, Pirinen S, Thesleff I, Arte S, Nieminen P. A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. Eur J Hum Genet. 2003;11:866-71 pubmed
    Mutations in PAX9 have been described for families in which inherited oligodontia characteristically involves permanent molars. Our study analysed one large family with dominantly inherited oligodontia clinically and genetically...
  8. Zhao J, Chen Y, Bao L, Xia Q, Wu T, Zhou L. [Novel mutations of PAX9 gene in Chinese patients with oligodontia]. Zhonghua Kou Qiang Yi Xue Za Zhi. 2005;40:266-70 pubmed
    To investigate the mutational characteristics of PAX9 gene in Chinese patients with congenital oligodontia and thus to provide a molecular basis for studying the pathogenesis of oligodontia...
  9. Mostowska A, Biedziak B, Trzeciak W. A novel mutation in PAX9 causes familial form of molar oligodontia. Eur J Hum Genet. 2006;14:173-9 pubmed
    b>PAX9 is a paired domain transcription factor that plays a critical role in odontogenesis. All mutations of PAX9 identified to date have been associated with nonsyndromic form of tooth agenesis...
  10. Zhao J, Hu Q, Chen Y, Luo S, Bao L, Xu Y. A novel missense mutation in the paired domain of human PAX9 causes oligodontia. Am J Med Genet A. 2007;143A:2592-7 pubmed
    b>PAX9 and MSX1 are transcription factors that play essential roles in craniofacial and limb development. In humans, mutations in both genes are associated with nonsyndromic and syndromic oligodontia, respectively...
  11. Kula K, Trimmell J, Lu Y, Briscoe P, Feng J. Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report. World J Orthod. 2008;9:e55-61 pubmed
    ..in a family whose members all presented with multiple and variable tooth agenesis is related to a mutation of the PAX9 gene. The family was examined and its histories recorded...
  12. Das P, Stockton D, Bauer C, Shaffer L, D Souza R, Wright T, et al. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia. Hum Genet. 2002;110:371-6 pubmed
    We 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)...
  13. Mostowska A, Kobielak A, Biedziak B, Trzeciak W. Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia. Eur J Oral Sci. 2003;111:272-6 pubmed
    ..It has been reported that selective tooth agenesis is associated with mutations in human MSX and PAX9 genes...
  14. Jumlongras D, Lin J, Chapra A, Seidman C, Seidman J, Maas R, et al. A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia. Hum Genet. 2004;114:242-9 pubmed
    b>PAX9, a paired domain transcription factor, has important functions in craniofacial and limb development...
  15. Peres R, Scarel Caminaga R, do Espírito Santo A, Line S. Association between PAX-9 promoter polymorphisms and hypodontia in humans. Arch Oral Biol. 2005;50:861-71 pubmed
    ..These results indicate that polymorphisms in the promoter region of PAX 9 gene may have an influence on the transcriptional activity of this gene and are associated with hypodontia in humans. ..
  16. Pawlowska E, Janik Papis K, Poplawski T, Blasiak J, Szczepanska J. Mutations in the PAX9 gene in sporadic oligodontia. Orthod Craniofac Res. 2010;13:142-52 pubmed publisher
    Oligodontia, a congenital lack of six or more teeth, is often associated with mutations in the PAX9 gene; therefore, we searched for mutations in this gene...
  17. Trejo Remigio D, Jacinto Alemán L, Leyva Huerta E, Navarro Bustos B, Portilla Robertson J. Ectodermal and ectomesenchymal marker expression in primary cell lines of complex and compound odontomas: a pilot study. Minerva Stomatol. 2019;68:132-141 pubmed publisher
    ..MTT, immunocytochemistry and RT-PCR assays of CD34, Sox2, Amel, Ambn, p21, EDAR, Msx1, Msx2, Pax9, RUNX2, BSP, OPN, Barx1 and GAPDH (control) were performed...
  18. Qin H, Cai J. Axis inhibition protein 2 polymorphisms may be a risk factor for families with isolated oligodontia. Mol Med Rep. 2015;11:1899-904 pubmed publisher
    The objective of the present study was to search for Msh homeobox 1 (MSX1), paired box gene 9 (PAX9), ectodysplasin‑A (EDA) and axis inhibition protein 2 (AXIN2) variants in a family with isolated oligodontia and analyse the ..
  19. Guo X, Lin W, Bao J, Cai Q, Pan X, Bai M, et al. A Comprehensive cis-eQTL Analysis Revealed Target Genes in Breast Cancer Susceptibility Loci Identified in Genome-wide Association Studies. Am J Hum Genet. 2018;102:890-903 pubmed publisher
    ..single-nucleotide polymorphisms (SNPs), rs11552449 (DCLRE1B), rs7257932 (SSBP4), rs3747479 (MRPS30), rs2236007 (PAX9), and rs73134739 (ATG10), could significantly change promoter activities of their target genes compared to ..
  20. Abu Siniyeh A, Khabour O, Owais A. The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population. Appl Clin Genet. 2018;11:145-149 pubmed publisher
    ..Several genes have been shown to be involved in the development of hypodontia such as paired box gene 9 (PAX9)...
  21. Chen X, Huang H, Wang H, Guo F, Du X, Ma L, et al. Characterization of zebrafish Pax1b and Pax9 in fin bud development. Biomed Res Int. 2014;2014:309385 pubmed publisher
    Both Pax1 and Pax9 belong to the important paired box gene family (PAX), which mainly participates in animal development and sclerotome differentiation...
  22. Yue H, Liang J, Yang K, Hua B, Bian Z. Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis. Eur J Oral Sci. 2016;124:228-33 pubmed publisher
    ..genes have been associated with non-syndromic tooth agenesis, including msh homeobox 1 (MSX1), paired box 9 (PAX9), axis inhibition protein 2 (AXIN2), ectodysplasin A (EDA), and wingless-type MMTV integration site family member ..
  23. Ribeiro M, Teixeira G, Martins L, Marques M, de Souza A, Line S. G-quadruplex formation enhances splicing efficiency of PAX9 intron 1. Hum Genet. 2015;134:37-44 pubmed publisher
    ..e., interaction of four guanines (G-tracts) bounded by Hoogsteen hydrogen bonding). Human PAX9 intron 1 has a putative G-quadruplex-forming region located near exon 1, which is present in all known sequenced ..
  24. Hlousková A, Bonczek O, Izakovicová Hollá L, Lochman J, Soukalová J, Stembírek J, et al. Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population. Neuro Endocrinol Lett. 2015;36:452-7 pubmed
    ..Among genes involved in tooth morphogenesis, mutations in PAX9, MSX1, AXIN2, WNT10a, and EDA genes have been associated with tooth agenesis...
  25. Zheng Y, Cai J, Hutchins A, Jia L, Liu P, Yang D, et al. Remission for Loss of Odontogenic Potential in a New Micromilieu In Vitro. PLoS ONE. 2016;11:e0152893 pubmed publisher
    ..transcriptomic alteration and, specifically, the downregulation of some dental mesenchyme-specific genes, such as Pax9, Msx1, and Pdgfr?...
  26. Ichikawa E, Watanabe A, Nakano Y, Akita S, Hirano A, Kinoshita A, et al. PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. J Hum Genet. 2006;51:38-46 pubmed
    ..to investigate, in a Japanese population, relationships between CL/P or CPO and seven candidate genes (TGFB3, DLX3, PAX9, CLPTM1, TBX10, PVRL1, TBX22) that showed positive associations in other populations and are expressed in the oral/..
  27. Sull J, Liang K, Hetmanski J, Fallin M, Ingersoll R, Park J, et al. Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations. Eur J Hum Genet. 2009;17:831-9 pubmed publisher
    ..and 40 from Korea) were genotyped for 34 single nucleotide polymorphisms (SNPs) in the PAX3, PAX6, PAX7, and PAX9 genes. We performed the transmission disequilibrium test (TDT) on individual SNPs...
  28. Grejtakova D, Gabrikova Dojcakova D, Boronova I, Kyjovska L, Hubcejova J, Fecenkova M, et al. WNT10A variants in relation to nonsyndromic hypodontia in eastern Slovak population. J Genet. 2018;97:1169-1177 pubmed
    ..to search for the variants in wingless-type MMTV-integration site family member (WNT10A), paired box 9 (PAX9) and axis inhibitor 2 (AXIN2) genes, and investigate their potential role in the pathogenesis of non-..
  29. Vieira A, D Souza R, Mues G, Deeley K, Hsin H, Küchler E, et al. Candidate gene studies in hypodontia suggest role for FGF3. Eur Arch Paediatr Dent. 2013;14:405-10 pubmed publisher
    ..08; GLI3 rs929387, p = 0.03; GLI3 haplotype rs929387-rs846266, p = 0.002; and PAX9 rs2073242, p = 0.03...
  30. Li S, Morley M, Lu M, Zhou S, Stewart K, French C, et al. Foxp transcription factors suppress a non-pulmonary gene expression program to permit proper lung development. Dev Biol. 2016;416:338-46 pubmed publisher
    ..high levels of transcriptional regulators not normally expressed in the developing lung, including Pax2, Pax8, Pax9 and the Hoxa9-13 cluster...
  31. Kobielak A, Kobielak K, Wisniewski A, Mostowska A, Biedziak B, Trzeciak W. The novel polymorphic variants within the paired box of the PAX9 gene are associated with selective tooth agenesis. Folia Histochem Cytobiol. 2001;39:111-2 pubmed
    It has been reported that two genes MSX1 and PAX9, which encode transcription factors, are associated with selective tooth agenesis...
  32. Prathibha Y, Senthilkumaran B. Involvement of pax2 in ovarian development and recrudescence of catfish: a role in steroidogenesis. J Endocrinol. 2016;231:181-195 pubmed
    ..pax2 was isolated from the ovary of catfish, Clarias batrachus, along with its other Pax family members, pax1 and pax9 Tissue distribution and ontogeny expression analysis indicated the prevalence of pax2 but not pax1 and pax9 in ..
  33. Huang Y, Yang Y, Jiang M, Lin M, Li S, Lin Y. Immortalization and characterization of human dental mesenchymal cells. J Dent. 2015;43:576-82 pubmed publisher
    ..cell line displayed a higher proliferation rate, expressed several tooth-specific markers including Msx1, Pax9, Lhx6, Barx1, and Runx2, and maintained the ability to differentiate and form mineralized nodules...
  34. Nishiguchi Y, Ohmoto M, Koki J, Enomoto T, Kominami R, Matsumoto I, et al. Bcl11b/Ctip2 is required for development of lingual papillae in mice. Dev Biol. 2016;416:98-110 pubmed publisher
    ..In addition, expression of Pax9, required for morphogenesis of filiform papillae and its downstream target genes, hard keratins, almost disappeared ..
  35. Song T, Wu D, Wang Y, Li H, Yin N, Zhao Z. SNPs and interaction analyses of IRF6, MSX1 and PAX9 genes in patients with non?syndromic cleft lip with or without palate. Mol Med Rep. 2013;8:1228-34 pubmed publisher
    ..The genes interferon regulatory factor 6 (IRF6), muscle segment homeobox 1 (MSX1) and paired box gene 9 (PAX9) are important for the development of the maxillofacial region and dentition...
  36. Jia S, Zhou J, Wee Y, Mikkola M, Schneider P, D Souza R. Anti-EDAR Agonist Antibody Therapy Resolves Palate Defects in Pax9-/- Mice. J Dent Res. 2017;96:1282-1289 pubmed publisher
    ..Here, we use the well-characterized model of the Pax9-/- mouse, which displays a consistent phenotype of a secondary cleft palate, to test a novel therapeutic...
  37. Jankovska I, Pilmane M, Akota I. Expression of gene proteins, interleukins and β-defensin in cleft-affected tissue. Stomatologija. 2017;19:103-108 pubmed
    ..have been taken, and stained with immunohistochemistry for β-defensin 2, IL4, IL6, IL7, IL8, IL10 and MSX1, RYK, PAX9, IRF6 gene proteins. Results showed prominent expression of IL10 (mean value 47.28±4...
  38. Hsu D, Acharya C, Balakumaran B, Riedel R, Kim M, Stevenson M, et al. Characterizing the developmental pathways TTF-1, NKX2-8, and PAX9 in lung cancer. Proc Natl Acad Sci U S A. 2009;106:5312-7 pubmed publisher
    We investigated the clinical implications of lung developmental transcription factors (TTF-1, NKX2-8, and PAX9) that we recently discovered as cooperating oncogenes activated by way of gene amplification at chromosome 14q13 in lung cancer...
  39. Dai J, Yu H, Si J, Fang B, Shen S. Irf6-Related Gene Regulatory Network Involved in Palate and Lip Development. J Craniofac Surg. 2015;26:1600-5 pubmed publisher
    ..results showed that many CL/P candidate genes have relation with Irf6, and 9 of these genes, including Msx1, Pvrl1, Pax9, Jag2, Irf6, Tgfb3, Rara, Gli2, and Tgfb2, were enriched into the CL/P gene group...
  40. Haddaji Mastouri M, De Coster P, Zaghabani A, Trabelsi S, May Y, Saad A, et al. Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis. Arch Oral Biol. 2016;71:110-116 pubmed publisher
    ..factors during initiation and early morphogenesis of the tooth germ, and the first actors identified were MSX1 and PAX9. In this study, we focalized on a Tunisian family with a non-syndromic autosomal dominant form of tooth agenesis...
  41. Kantaputra P, Kapoor S, Verma P, Kaewgahya M, Kawasaki K, Ohazama A, et al. Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation. Eur J Med Genet. 2017;60:695-700 pubmed publisher
    ..his parents ruled out mutations in 11 known hypodontia-associated genes including WNT10A, MSX1, EDA, EDAR, EDARADD, PAX9, AXIN2, GREM2, NEMO, KRT17, and TFAP2B...
  42. Peck S, Peck L, Kataja M. Concomitant occurrence of canine malposition and tooth agenesis: evidence of orofacial genetic fields. Am J Orthod Dentofacial Orthop. 2002;122:657-60 pubmed
    ..findings with results from recent molecular studies, we suggest that transcription factors such as MSX1 and PAX9, which have been associated with agenesis of molars, might be involved in the genetic control of Mn.I2...
  43. Phan M, Conte F, Khandelwal K, Ockeloen C, Bartzela T, Kleefstra T, et al. Tooth agenesis and orofacial clefting: genetic brothers in arms?. Hum Genet. 2016;135:1299-1327 pubmed
    ..provided 9 genomic loci and 26 gene candidates underlying the co-occurrence of the two congenital defects: MSX1, PAX9, IRF6, TP63, KMT2D, KDM6A, SATB2, TBX22, TGFα, TGFβ3, TGFβR1, TGFβR2, FGF8, FGFR1, KISS1R, WNT3, WNT5A, ..
  44. Mendoza Fandino G, Gee J, Ben Dor S, Gonzalez Quevedo C, Lee K, Kobayashi Y, et al. A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia. Clin Genet. 2011;80:265-72 pubmed publisher
    Mutations in the transcription factor PAX9 which plays a critical role in the switching of odontogenic potential from the epithelium to the mesenchyme during tooth development cause autosomal dominant non-syndromic hypodontia primarily ..
  45. Thekkeparambil Chandrabose S, Sriram S, Subramanian S, Cheng S, Ong W, Rozen S, et al. Amenable epigenetic traits of dental pulp stem cells underlie high capability of xeno-free episomal reprogramming. Stem Cell Res Ther. 2018;9:68 pubmed publisher
    ..Among these genes, it is found that overexpression of PAX9 and knockdown of HERV-FRD improved the efficiencies of iPS generation...
  46. Tatematsu T, Kimura M, Nakashima M, Machida J, Yamaguchi S, Shibata A, et al. An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family. PLoS ONE. 2015;10:e0128227 pubmed publisher
    Congenital tooth agenesis is caused by mutations in the MSX1, PAX9, WNT10A, or AXIN2 genes...
  47. Kantaputra P, Kaewgahya M, Hatsadaloi A, Vogel P, Kawasaki K, Ohazama A, et al. GREMLIN 2 Mutations and Dental Anomalies. J Dent Res. 2015;94:1646-52 pubmed publisher
    ..It has been associated with mutations in MSX1, PAX9, EDA, AXIN2, EDAR, EDARADD, and WNT10A...
  48. Stafford D, Dichmann D, Chang J, Harland R. Deletion of the sclerotome-enriched lncRNA PEAT augments ribosomal protein expression. Proc Natl Acad Sci U S A. 2017;114:101-106 pubmed publisher
    ..In addition to well-known early markers of sclerotome, such as Pax1, Pax9, and the Bapx2/Nkx3-2 homolog Nkx3-1, the long-noncoding RNA PEAT (Pax1 enhancer antisense transcript) was induced ..
  49. Mostowska A, Hozyasz K, Wojcicki P, Biedziak B, Paradowska P, Jagodzinski P. Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population. Birth Defects Res A Clin Mol Teratol. 2010;88:538-45 pubmed publisher
    ..We performed an analysis of 18 polymorphisms of FOXE1, IRF6, MSX1, PAX9, TBX10, FGF10, FGFR1, TGFalpha, TGFbeta3, SUMO1, and the chromosomal region 8q24 in a group of 175 patients with CL/..
  50. Lee J, Park J, Kim Y, Baek S. Association between PAX9 single-nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate. J Craniofac Surg. 2012;23:1262-6 pubmed publisher
    The purpose of this study was to investigate the contribution of PAX9 gene to the risk of nonsyndromic cleft lip with or without cleft palate (NS-CL/P)...
  51. Monsoro Burq A. PAX transcription factors in neural crest development. Semin Cell Dev Biol. 2015;44:87-96 pubmed publisher
    The nine vertebrate PAX transcription factors (PAX1-PAX9) play essential roles during early development and organogenesis...
  52. Chen H, Beasley A, Hu Y, Chen X. A Zebrafish Model for Studies on Esophageal Epithelial Biology. PLoS ONE. 2015;10:e0143878 pubmed publisher
    ..Expression of esophageal epithelial marker genes (Krt5, P63, Sox2 and Pax9) was detected by immunohistochemistry and in situ hybridization...
  53. Ohlemiller K, Kiener A, Gagnon P. QTL Mapping of Endocochlear Potential Differences between C57BL/6J and BALB/cJ mice. J Assoc Res Otolaryngol. 2016;17:173-94 pubmed publisher
    ..Candidate genes for Maced notably include Foxg1, Foxa1, Akap6, Nkx2-1, and Pax9. Noise exposure produced significant EP reductions in two RI strains as well as significant EP increases in two RI ..
  54. Villafuerte B, Natera de Benito D, González A, Mori M, Palomares M, Nevado J, et al. The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency. Eur J Med Genet. 2018;61:393-398 pubmed publisher
    ..A CGH-array identified a deletion of 3.32?Mb in chromosome 14q13.2-q21.1 containing 20 genes, including NKX2-1, PAX9 and two candidate genes (NFKB1A and PPP2R3C) involved in immune response...
  55. Zhu J, Yang X, Zhang C, Ge L, Zheng S. A novel nonsense mutation in PAX9 is associated with sporadic hypodontia. Mutagenesis. 2012;27:313-7 pubmed publisher
    ..The expression of Pax9 had been shown to specifically mark the mesenchymal regions at the prospective sites of all teeth prior to any ..
  56. Phillips C, Butler B, Fondon J, Mantilla Meluk H, Baker R. Contrasting evolutionary dynamics of the developmental regulator PAX9, among bats, with evidence for a novel post-transcriptional regulatory mechanism. PLoS ONE. 2013;8:e57649 pubmed publisher
    ..The paired-domain gene, PAX9, is known to be a key regulator of development, particularly of the face and teeth...
  57. de Araujo T, Secolin R, Félix T, de Souza L, Fontes M, Monlleó I, et al. A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population. J Craniomaxillofac Surg. 2016;44:16-20 pubmed publisher
    ..associated with the etiology of NSCLP, including MSX1, SPRY1, MSX2, PRSS35, TFAP2A, SHH, VAX1, TBX10, WNT11, PAX9, BMP4, JAG2, AXIN2, DVL2, KIF7, and TCBE3. Stepwise regression analysis revealed that 11 genes contributed to 15...
  58. Xiong F, Ji Z, Liu Y, Zhang Y, Hu L, Yang Q, et al. Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. Hum Mutat. 2017;38:95-104 pubmed publisher
    ..the pulp cavity and upregulation or downregulation of six major genes involved in odontogenesis: Dspp, Dmp1, Runx2, Pax9, Bmp2, and Dlx2...
  59. Gerber J, Richter T, Kremmer E, Adamski J, Hofler H, Balling R, et al. Progressive loss of PAX9 expression correlates with increasing malignancy of dysplastic and cancerous epithelium of the human oesophagus. J Pathol. 2002;197:293-7 pubmed
    ..In this study, PAX9-specific monoclonal antibodies have been generated and it has been shown that PAX9 protein is expressed in the ..
  60. Seki D, Takeshita N, Oyanagi T, Sasaki S, Takano I, Hasegawa M, et al. Differentiation of Odontoblast-Like Cells From Mouse Induced Pluripotent Stem Cells by Pax9 and Bmp4 Transfection. Stem Cells Transl Med. 2015;4:993-7 pubmed publisher
    ..Next, we differentiated iNCLCs into odontoblast-like cells by transfection of Pax9 and Bmp4 expression plasmids...
  61. Anthwal N, Peters H, Tucker A. Species-specific modifications of mandible shape reveal independent mechanisms for growth and initiation of the coronoid. Evodevo. 2015;6:35 pubmed publisher
    ..A necessary component of the intrinsic patterning is identified as the paired domain transcription factor Pax9. We also demonstrate that Sox9 plays a role independent of chondrogenesis in the growth of the coronoid process in ..
  62. Gentile M, De Mattia D, Pansini A, Schettini F, Buonadonna A, Capozza M, et al. 14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype. Am J Med Genet A. 2016;170:1884-8 pubmed publisher
    ..2016 Wiley Periodicals, Inc. ..
  63. Rani L, Mathur N, Gupta R, Gogia A, Kaur G, Dhanjal J, et al. Genome-wide DNA methylation profiling integrated with gene expression profiling identifies PAX9 as a novel prognostic marker in chronic lymphocytic leukemia. Clin Epigenetics. 2017;9:57 pubmed publisher
    ..based categories (Unmutated?=?39, Mutated?=?54) revealed significantly higher mRNA expression of CRY1 and PAX9 genes in the IGHV unmutated subgroup (p?<?0.001)...
  64. Mues G, Kapadia H, Wang Y, D Souza R. Genetics and human malformations. J Craniofac Surg. 2009;20 Suppl 2:1652-4 pubmed publisher
    ..In this report, we briefly review the roles of the PAX9, MSX1, AXIN2, and EDA genes in the causation of congenital tooth agenesis and the promise of molecular genetic ..
  65. Wang S, Chan H, Makovey I, Simmer J, Hu J. Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities. PLoS ONE. 2012;7:e51533 pubmed publisher
    ..Mutations in MSX1, PAX9, AXIN2, EDA and WNT10A can cause non-syndromic familial tooth agenesis...
  66. Gaczkowska A, Abdalla E, Dowidar K, Elhady G, Jagodzinski P, Mostowska A. De novo EDA mutations: Variable expression in two Egyptian families. Arch Oral Biol. 2016;68:21-8 pubmed publisher
    ..Direct sequencing of the coding regions including exon-intron boundaries of EDA, MSX1, PAX9, WNT10A and EDAR was performed in probands and their available family members...
  67. Watanabe M, Yasuoka Y, Mawaribuchi S, Kuretani A, Ito M, Kondo M, et al. Conservatism and variability of gene expression profiles among homeologous transcription factors in Xenopus laevis. Dev Biol. 2017;426:301-324 pubmed publisher
    ..1% vs 74.6%). Interestingly, nkx2-1, nkx2-8, and pax9, which reside consecutively in a postulated functional gene cluster, were deleted from the S chromosome, suggesting ..
  68. Li C, Lan Y, Krumlauf R, Jiang R. Modulating Wnt Signaling Rescues Palate Morphogenesis in Pax9 Mutant Mice. J Dent Res. 2017;96:1273-1281 pubmed publisher
    ..Here, we report that canonical Wnt signaling plays an important role in Pax9-mediated regulation of secondary palate development...
  69. Zhao J, Chen Y, Bao L, Wu T, Zhou L. [Functional analysis of novel mutations in PAX9 associated with familial oligodontia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005;22:419-22 pubmed
    ..The region of PAX9 paired domain (PAX9PD) was amplified and the expression plasmids were constructed in pGEXlambda -1T by PCR-based ..
  70. Capellini T, Zewdu R, Di Giacomo G, Asciutti S, Kugler J, Di Gregorio A, et al. Pbx1/Pbx2 govern axial skeletal development by controlling Polycomb and Hox in mesoderm and Pax1/Pax9 in sclerotome. Dev Biol. 2008;321:500-14 pubmed publisher
    ..Polycomb and Hox proteins in the paraxial mesoderm, while their subsequent morphogenesis depends partially on Pax1/Pax9 in the sclerotome...
  71. Feng J, Jing J, Li J, Zhao H, Punj V, Zhang T, et al. BMP signaling orchestrates a transcriptional network to control the fate of mesenchymal stem cells in mice. Development. 2017;144:2560-2569 pubmed publisher
    ..Specifically, we identified the transcription factors Pax9, Klf4, Satb2 and Lhx8 as being downstream of BMP signaling and expressed in a spatially restricted pattern that is ..
  72. Pinho T, Silva Fernandes A, Bousbaa H, Maciel P. Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis. Eur J Orthod. 2010;32:582-8 pubmed publisher
    ..The aim of this study was to search for mutations in the PAX9 and MSX1 genes and to investigate their potential association with the maxillary lateral incisor agenesis (MLIA) ..
  73. Ikegawa S, Mabuchi A, Ogawa M, Ikeda T. Allele-specific PCR amplification due to sequence identity between a PCR primer and an amplicon: is direct sequencing so reliable?. Hum Genet. 2002;110:606-8 pubmed
    ..Here we report a case of erroneous DS, in which a single nucleotide polymorphism (SNP) in the human PAX9 gene was mistyped due to allele-dependent PCR amplification...
  74. Arcuri C, Zito I, Santini F, Muzzi F, Panetta V, Squitti R. Understanding the implications of the PAX9 gene in tooth development. Eur J Paediatr Dent. 2011;12:245-8 pubmed
    Tooth agenesis is characterised by the congenital absence of one or more teeth. The Pax9 gene has been associated with nonsyndromic forms...
  75. Mu Y, Xu Z, Contreras C, McDaniel J, Donly K, Chen S. Mutational analysis of AXIN2, MSX1, and PAX9 in two Mexican oligodontia families. Genet Mol Res. 2013;12:4446-58 pubmed publisher
    The genes for axin inhibition protein 2 (AXIN2), msh homeobox 1 (MSX1), and paired box gene 9 (PAX9) are involved in tooth root formation and tooth development...
  76. Zhang W, Qu H, Zhang Y. PAX-9 polymorphism may be a risk factor for hypodontia: a meta-analysis. Genet Mol Res. 2014;13:9997-10006 pubmed publisher
    To evaluate the association between paired box 9 (PAX9) gene polymorphisms and tooth agenesis in isolated humans, we performed a comprehensive meta-analysis...
  77. Cheng N, Wang D, Zhou Z, Cheng Z, Dong L, Zhang R, et al. Interaction between HCMV infection and PAX9 gene polymorphisms in low birth weight infants. J Matern Fetal Neonatal Med. 2016;29:2040-3 pubmed publisher
    To investigate the interaction between human cytomegalovirus infection and PAX9 gene polymorphisms in low birth weight (LBW) infants...
  78. Xiong Z, Ren S, Chen H, Liu Y, Huang C, Zhang Y, et al. PAX9 regulates squamous cell differentiation and carcinogenesis in the oro-oesophageal epithelium. J Pathol. 2018;244:164-175 pubmed publisher
    b>PAX9 is a transcription factor of the PAX family characterized by a DNA-binding paired domain. Previous studies have suggested a potential role of PAX9 in squamous cell differentiation and carcinogenesis of the oro-oesophageal epithelium...
  79. Stapleton P, Weith A, Urbanek P, Kozmik Z, Busslinger M. Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9. Nat Genet. 1993;3:292-8 pubmed
    ..PAX-1 and PAX-7 map to chromosomal regions containing previously assigned disease loci. ..
  80. Suzuki M, Katagiri N, Ueda M, Tanaka S. Functional analysis of Nkx2.1 and Pax9 for calcitonin gene transcription. Gen Comp Endocrinol. 2007;152:259-66 pubmed
    ..1 induced a significant increase in the promoter transcription. Furthermore, we detected Pax1 and/or Pax9 gene expression in mammalian medullary thyroid carcinoma cell lines, rat rMTC and human TT cells, and in mammalian ..
  81. Gong Y, Feng H, He H, Ge Y. [Correlation between the phenotype and genotype of tooth agenesis patients by tooth agenesis code]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2010;32:254-9 pubmed publisher
    ..Patients with isolated hypodontia caused by PAX9 or MSX1 mutation reported before May 2007 were enrolled. The teeth missing rate and TAC code were recorded...
  82. Wang J, Xu Y, Chen J, Wang F, Huang R, Wu S, et al. PAX9 polymorphism and susceptibility to sporadic non-syndromic severe anodontia: a case-control study in southwest China. J Appl Oral Sci. 2013;21:256-64 pubmed publisher
    ..traits and genetic mutations in sporadic non-syndromic anodontia and to gain insight into the role of mutations of PAX9, MSX1, AXIN2 and EDA in anodontia phenotypes, especially for the PAX9...
  83. Mostowska A, Zadurska M, Rakowska A, Lianeri M, Jagodziński P. Novel PAX9 mutation associated with syndromic tooth agenesis. Eur J Oral Sci. 2013;121:403-11 pubmed publisher
    ..sequencing of the coding regions, including exon/intron boundaries of the msh homeobox 1 (MSX1), paired box 9 (PAX9), ectodysplasin A (EDA), and wingless-type MMTV integration site family, member 10 (WNT10A) genes, was carried out ..
  84. Isman E, Nergiz S, Acar H, Sari Z. PAX9 polymorphisms and susceptibility with sporadic tooth agenesis in Turkish populations: a case-control study. BMC Genomics. 2013;14:733 pubmed publisher
    ..Familial hypodontia is caused by mutations in PAX9, Msx1 and Axin2 genes...
  85. Hashmi B, Mammoto T, Weaver J, Ferrante T, Jiang A, Jiang E, et al. Mechanical induction of dentin-like differentiation by adult mouse bone marrow stromal cells using compressive scaffolds. Stem Cell Res. 2017;24:55-60 pubmed publisher
    ..increase expression of critical markers of tooth differentiation in vitro, including the key transcription factors Pax9 and Msx1...
  86. Daw E, Saliba C, Grech G, Camilleri S. A novel PAX9 mutation causing oligodontia. Arch Oral Biol. 2017;84:100-105 pubmed publisher
    ..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...
  87. Peters H, Schuster G, Neubüser A, Richter T, Hofler H, Balling R. Isolation of the Pax9 cDNA from adult human esophagus. Mamm Genome. 1997;8:62-4 pubmed
  88. Barrett A, Santangelo S, Tan K, Catchpole S, Roberts K, Spencer Dene B, et al. Breast cancer associated transcriptional repressor PLU-1/JARID1B interacts directly with histone deacetylases. Int J Cancer. 2007;121:265-75 pubmed
    ..Significantly, the expression of both proteins is seen in breast cancers. ..
  89. Brook A, Elcock C, Aggarwal M, Lath D, Russell J, Patel P, et al. Tooth dimensions in hypodontia with a known PAX9 mutation. Arch Oral Biol. 2009;54 Suppl 1:S57-62 pubmed publisher
    ..obtained from 10 family members from three generations affected by severe hypodontia with a missense mutation in PAX9 and 10 unaffected, unrelated controls...
  90. Haldeman Englert C, Biser A, Zackai E, Ming J. A 223-kb de novo deletion of PAX9 in a patient with oligodontia. J Craniofac Surg. 2010;21:837-9 pubmed publisher
    ..Abnormalities of PAX2, PAX3, PAX6, and PAX9 are associated with various congenital craniofacial anomalies, including tooth abnormalities...
  91. Militi D, Militi A, Cutrupi M, Portelli M, Rigoli L, Matarese G, et al. Genetic basis of non syndromic hypodontia: a DNA investigation performed on three couples of monozygotic twins about PAX9 mutation. Eur J Paediatr Dent. 2011;12:21-4 pubmed
    ..To date, over 200 candidate genes have been demonstrated to be active in tooth development. The genes Pax9 plays an important role in the initial stage of odontogenesis...
  92. Bergendal B, Klar J, Stecksen Blicks C, Norderyd J, Dahl N. Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. Am J Med Genet A. 2011;155A:1616-22 pubmed publisher
    ..lack of one or more permanent teeth) are highly heritable conditions associated with mutations in the AXIN2, MSX1, PAX9, EDA, and EDAR genes...