Gene Symbol: Pax9
Description: paired box 9
Alias: Pax-9, paired box protein Pax-9, paired box gene 9
Species: mouse
Products:     Pax9

Top Publications

  1. McGlinn E, van Bueren K, Fiorenza S, Mo R, Poh A, Forrest A, et al. Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development. Mech Dev. 2005;122:1218-33 pubmed
    ..In particular, we demonstrated that the genes encoding the paired box transcription factor Pax9, the Notch ligand Jagged1 and the cell surface receptor Cdo are dependent on Gli3 for correct expression in the ..
  2. Pauws E, Hoshino A, Bentley L, Prajapati S, Keller C, Hammond P, et al. Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes. Hum Mol Genet. 2009;18:4171-9 pubmed publisher
    ..These findings could have important implications for the molecular diagnosis in patients with isolated SMCP and/or unexplained choanal atresia...
  3. Burgess R, Rawls A, Brown D, Bradley A, Olson E. Requirement of the paraxis gene for somite formation and musculoskeletal patterning. Nature. 1996;384:570-3 pubmed
    ..These results demonstrate that paraxis regulates somite morphogenesis, and that the function of somites is to pattern the axial skeleton and skeletal muscles. ..
  4. Nakatomi M, Wang X, Key D, Lund J, Turbe Doan A, Kist R, et al. Genetic interactions between Pax9 and Msx1 regulate lip development and several stages of tooth morphogenesis. Dev Biol. 2010;340:438-49 pubmed publisher
    ..b>Pax9 and Msx1 are co-expressed during craniofacial development, and mice that are single homozygous mutant for either ..
  5. Liu W, Sun X, Braut A, Mishina Y, Behringer R, Mina M, et al. Distinct functions for Bmp signaling in lip and palate fusion in mice. Development. 2005;132:1453-61 pubmed
    ..Our data uncover a Bmp4-Bmpr1a genetic pathway that functions in lip fusion, and reveal that Bmp signaling has distinct roles in lip and palate fusion...
  6. Funato N, Nakamura M, Richardson J, Srivastava D, Yanagisawa H. Tbx1 regulates oral epithelial adhesion and palatal development. Hum Mol Genet. 2012;21:2524-37 pubmed publisher
    ..Our present study reveals new pathogenesis of incomplete and submucous cleft palate during mammalian palatogenesis. ..
  7. Peters H, Wilm B, Sakai N, Imai K, Maas R, Balling R. Pax1 and Pax9 synergistically regulate vertebral column development. Development. 1999;126:5399-408 pubmed
    The paralogous genes Pax1 and Pax9 constitute one group within the vertebrate Pax gene family...
  8. Cordes R, Schuster Gossler K, Serth K, Gossler A. Specification of vertebral identity is coupled to Notch signalling and the segmentation clock. Development. 2004;131:1221-33 pubmed
    ..Together, these results provide genetic evidence that precisely regulated levels of Notch activity as well as cyclic Lfng activity are critical for positional specification of the anteroposterior body axis in the paraxial mesoderm. ..
  9. Denaxa M, Sharpe P, Pachnis V. The LIM homeodomain transcription factors Lhx6 and Lhx7 are key regulators of mammalian dentition. Dev Biol. 2009;333:324-36 pubmed publisher
    ..Our experiments demonstrate that the redundant activities of the LIM homeodomain proteins Lhx6 and Lhx7 are critical for craniofacial development and patterning of mammalian dentition. ..

More Information


  1. Jonker L, Kist R, Aw A, Wappler I, Peters H. Pax9 is required for filiform papilla development and suppresses skin-specific differentiation of the mammalian tongue epithelium. Mech Dev. 2004;121:1313-22 pubmed
    ..How this region-specific differentiation is genetically controlled is largely unknown. We show here that Pax9, which is expressed in the epithelium of the tongue but not in skin, regulates several aspects of tongue-specific ..
  2. Chen J, Lan Y, Baek J, Gao Y, Jiang R. Wnt/beta-catenin signaling plays an essential role in activation of odontogenic mesenchyme during early tooth development. Dev Biol. 2009;334:174-85 pubmed publisher
    ..Expression of Msx1 and Pax9, two essential tooth mesenchyme transcription factors downstream of Bmp and Fgf signaling, respectively, were not ..
  3. Dassule H, Lewis P, Bei M, Maas R, McMahon A. Sonic hedgehog regulates growth and morphogenesis of the tooth. Development. 2000;127:4775-85 pubmed
    ..These studies demonstrate that Shh regulates growth and determines the shape of the tooth. However, Shh signaling is not essential for differentiation of ameloblasts or odontoblasts. ..
  4. Leitges M, Neidhardt L, Haenig B, Herrmann B, Kispert A. The paired homeobox gene Uncx4.1 specifies pedicles, transverse processes and proximal ribs of the vertebral column. Development. 2000;127:2259-67 pubmed
    ..The mesenchymal anlagen for these elements are formed initially, but condensation and chondrogenesis do not occur. Hence, Uncx4.1 is required for the maintenance and differentiation of particular elements of the axial skeleton. ..
  5. Zhou J, Gao Y, Lan Y, Jia S, Jiang R. Pax9 regulates a molecular network involving Bmp4, Fgf10, Shh signaling and the Osr2 transcription factor to control palate morphogenesis. Development. 2013;140:4709-18 pubmed publisher
    ..Whereas gene knockout studies in mice have shown that both the Osr2 and Pax9 transcription factors are essential regulators of palatogenesis, little is known about the molecular mechanisms ..
  6. Kist R, Greally E, Peters H. Derivation of a mouse model for conditional inactivation of Pax9. Genesis. 2007;45:460-4 pubmed
    b>Pax9 is required for the formation of a variety of organs during mouse development. The function of Pax9 at postnatal stages is unknown since homozygosity of the null allele (Pax9(lacZ)) causes neonatal lethality...
  7. Sonnesen L, Nolting D, Kjaer K, Kjaer I. Association between the development of the body axis and the craniofacial skeleton studied by immunohistochemical analyses using collagen II, Pax9, Pax1, and Noggin antibodies. Spine (Phila Pa 1976). 2008;33:1622-6 pubmed publisher
    ..axis, the cranial base, and the craniofacial area were studied by immunohistochemical analyses using Collagen II, Pax9, Pax1, and Noggin antibodies...
  8. Kist R, Watson M, Wang X, Cairns P, Miles C, Reid D, et al. Reduction of Pax9 gene dosage in an allelic series of mouse mutants causes hypodontia and oligodontia. Hum Mol Genet. 2005;14:3605-17 pubmed
    ..teeth (hypodontia and oligodontia) are a common developmental abnormality in humans and heterozygous mutations of PAX9 have recently been shown to underlie a number of familial, non-syndromic cases...
  9. Hill P, Götz K, Ruther U. A SHH-independent regulation of Gli3 is a significant determinant of anteroposterior patterning of the limb bud. Dev Biol. 2009;328:506-16 pubmed publisher
    ..Furthermore, we present evidence that the anteroposterior grading of GLI3 activity by the action of SHH is supported by a prototype patterning, which regulates Gli3 independently from SHH. ..
  10. Sasaki Y, O Kane S, Dixon J, Dixon M, Ferguson M. Temporal and spatial expression of Pax9 and Sonic hedgehog during development of normal mouse palates and cleft palates in TGF-beta3 null embryos. Arch Oral Biol. 2007;52:260-7 pubmed
    Transforming growth factor-beta (TGF-beta3) gene disruption causes cleft secondary palate. Pax9 and Sonic hedgehog (Shh) genes are involved in the patterning of vertebrate embryonic tissues, including the facial skeleton...
  11. Liu F, Chu E, WATT B, Zhang Y, Gallant N, Andl T, et al. Wnt/beta-catenin signaling directs multiple stages of tooth morphogenesis. Dev Biol. 2008;313:210-24 pubmed
  12. 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
  13. Hrabe de Angelis M, McIntyre J, Gossler A. Maintenance of somite borders in mice requires the Delta homologue DII1. Nature. 1997;386:717-21 pubmed
  14. Alappat S, Zhang Z, Suzuki K, Zhang X, Liu H, Jiang R, et al. The cellular and molecular etiology of the cleft secondary palate in Fgf10 mutant mice. Dev Biol. 2005;277:102-13 pubmed
    ..Our results demonstrate that mesenchymally expressed Fgf10 is necessary for the survival of MEE cells and for the normal expression of Jagged2 and Tgfbeta3 in the palatal epithelium during mammalian palatogenesis...
  15. Peters H, Balling R. Teeth. Where and how to make them. Trends Genet. 1999;15:59-65 pubmed
    ..The mesenchymal transcription factors Msx1 and Pax9 are initially regulated by epithelial FGFs and BMPs, but subsequently they function upstream of these signaling ..
  16. 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...
  17. Mansouri A, Voss A, Thomas T, Yokota Y, Gruss P. Uncx4.1 is required for the formation of the pedicles and proximal ribs and acts upstream of Pax9. Development. 2000;127:2251-8 pubmed
    ..The loss of proximal ribs in Pax1/Pax9 double mutants and the data presented here argue for a role of Uncx4...
  18. Trumpp A, Depew M, Rubenstein J, Bishop J, Martin G. Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch. Genes Dev. 1999;13:3136-48 pubmed
    ..Because the mutant mice resemble humans with first arch syndromes that include agnathia, our results raise the possibility that some of these syndromes are caused by mutations that affect FGF8 signaling in BA1 ectoderm...
  19. Song Z, Liu C, Iwata J, Gu S, Suzuki A, Sun C, et al. Mice with Tak1 deficiency in neural crest lineage exhibit cleft palate associated with abnormal tongue development. J Biol Chem. 2013;288:10440-50 pubmed publisher
    ..Tak1 thus functions to regulate tongue development by controlling Fgf10 expression and could represent a candidate gene for mutation in human PRS clefting...
  20. Murray S, Oram K, Gridley T. Multiple functions of Snail family genes during palate development in mice. Development. 2007;134:1789-97 pubmed
  21. Neubüser A, Koseki H, Balling R. Characterization and developmental expression of Pax9, a paired-box-containing gene related to Pax1. Dev Biol. 1995;170:701-16 pubmed
    b>Pax9, a recently identified mouse paired-box-containing gene, is highly homologous to Pax1 and belongs to the same subfamily as Pax1, Hup48, PAX9, and pox meso...
  22. Lan Y, Ovitt C, Cho E, Maltby K, Wang Q, Jiang R. Odd-skipped related 2 (Osr2) encodes a key intrinsic regulator of secondary palate growth and morphogenesis. Development. 2004;131:3207-16 pubmed
    ..Furthermore, we show that the Osr2 mutants exhibit altered gene expression patterns, including those of Osr1, Pax9 and Tgfb3, during palate development...
  23. Bussen M, Petry M, Schuster Gossler K, Leitges M, Gossler A, Kispert A. The T-box transcription factor Tbx18 maintains the separation of anterior and posterior somite compartments. Genes Dev. 2004;18:1209-21 pubmed
    ..In summary, Tbx18 appears to act downstream of Mesp2 and Delta/Notch signaling to maintain the separation of anterior and posterior somite compartments. ..
  24. Peters H, Neubüser A, Kratochwil K, Balling R. Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev. 1998;12:2735-47 pubmed
    Pax genes have been shown to play important roles in mammalian development and organogenesis. Pax9, a member of this transcription factor family, is expressed in somites, pharyngeal pouches, mesenchyme involved in craniofacial, tooth, and ..
  25. Liu W, Selever J, Lu M, Martin J. Genetic dissection of Pitx2 in craniofacial development uncovers new functions in branchial arch morphogenesis, late aspects of tooth morphogenesis and cell migration. Development. 2003;130:6375-85 pubmed
    ..Moreover, our results uncover a new function of Pitx2 in regulation of cell motility in craniofacial development. ..
  26. Madsen B, Spencer Dene B, Poulsom R, Hall D, Lu P, Scott K, et al. Characterisation and developmental expression of mouse Plu-1, a homologue of a human nuclear protein (PLU-1) which is specifically up-regulated in breast cancer. Mech Dev. 2002;119 Suppl 1:S239-46 pubmed
    ..The temporal and spatial expression patterns of the transcription factors Bf-1 and Pax9, recently found to bind to PLU-1 through the PLU domain overlap with Plu-1 expression during development...
  27. Lan Y, Jiang R. Sonic hedgehog signaling regulates reciprocal epithelial-mesenchymal interactions controlling palatal outgrowth. Development. 2009;136:1387-96 pubmed publisher
  28. Cui Y, Peng Y, Tian Q. Expression of man, a formin homology domain-containing gene in the mouse limb. Sheng Li Xue Bao. 2005;57:433-8 pubmed
    ..Here we report the isolation of a novel cDNA, man, from the mouse limb, which contains two conserved FH1 and FH2 domains. Its expression is described and possible functional significance is discussed. ..
  29. Bulut Karslioglu A, Perrera V, Scaranaro M, de la Rosa Velazquez I, van de Nobelen S, Shukeir N, et al. A transcription factor-based mechanism for mouse heterochromatin formation. Nat Struct Mol Biol. 2012;19:1023-30 pubmed publisher
    ..We have identified the transcription factors Pax3 and Pax9 as redundant regulators of mouse heterochromatin, as they repress RNA output from major satellite repeats by ..
  30. Mammoto T, Mammoto A, Jiang A, Jiang E, Hashmi B, Ingber D. Mesenchymal condensation-dependent accumulation of collagen VI stabilizes organ-specific cell fates during embryonic tooth formation. Dev Dyn. 2015;244:713-23 pubmed publisher
  31. ten Berge D, Brouwer A, Korving J, Martin J, Meijlink F. Prx1 and Prx2 in skeletogenesis: roles in the craniofacial region, inner ear and limbs. Development. 1998;125:3831-42 pubmed
    ..A single, or no incisor was present in the lower jaw, and ectopic expression of Fgf8 and Pax9 was found medially in the mandibular arch...
  32. Neubüser A, Peters H, Balling R, Martin G. Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation. Cell. 1997;90:247-55 pubmed
    ..Here we have identified Pax9 as a marker for prospective tooth mesenchyme prior to the first morphological manifestation of odontogenesis...
  33. Kuta A, Mao Y, Martin T, Ferreira de Sousa C, Whiting D, Zakaria S, et al. Fat4-Dchs1 signalling controls cell proliferation in developing vertebrae. Development. 2016;143:2367-75 pubmed publisher
    ..Thus, we have identified a new pathway crucial for the development of the vertebrae and our data indicate that novel mechanisms of Fat4-Dchs1 signalling have evolved to control cell proliferation within the developing vertebrae. ..
  34. Stafford D, Brunet L, Khokha M, Economides A, Harland R. Cooperative activity of noggin and gremlin 1 in axial skeleton development. Development. 2011;138:1005-14 pubmed publisher
    ..We confirmed reduction of Pax1 and Pax9 expression in Nog mutants, but found that Nog;Grem1 double mutants completely fail to initiate sclerotome ..
  35. Lana Elola E, Tylzanowski P, Takatalo M, Alakurtti K, Veistinen L, Mitsiadis T, et al. Noggin null allele mice exhibit a microform of holoprosencephaly. Hum Mol Genet. 2011;20:4005-15 pubmed publisher
  36. 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 ..
  37. 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. ..
  38. Mansouri A, Stoykova A, Gruss P. Pax genes in development. J Cell Sci Suppl. 1994;18:35-42 pubmed
    ..To date three Pax genes have been shown to be mutated in undulated, Splotch and small eye, respectively. In man, Pax-3 is mutated in the Waardenburg syndrome, while in aniridia Pax-6 is mutated. ..
  39. Takahashi Y, Takagi A, Hiraoka S, Koseki H, Kanno J, Rawls A, et al. Transcription factors Mesp2 and Paraxis have critical roles in axial musculoskeletal formation. Dev Dyn. 2007;236:1484-94 pubmed
    ..1, and Bapx1 are regulated by Paraxis and that Pax9 expression was severely affected in the Mesp2/Paraxis double-null embryo...
  40. Mansouri A, Goudreau G, Gruss P. Pax genes and their role in organogenesis. Cancer Res. 1999;59:1707s-1709s; discussion 1709s-1710s pubmed
    ..In particular, they are involved in the regulation of early steps in organ development. They act to define the regional specification of distinct germ layers. ..
  41. Peters H, Neubüser A, Balling R. Pax genes and organogenesis: Pax9 meets tooth development. Eur J Oral Sci. 1998;106 Suppl 1:38-43 pubmed
    ..roles of many of the nine known Pax genes have been analyzed in great detail, a functional analysis of Pax9 has just begun...
  42. Rodrigo I, Hill R, Balling R, Munsterberg A, Imai K. Pax1 and Pax9 activate Bapx1 to induce chondrogenic differentiation in the sclerotome. Development. 2003;130:473-82 pubmed
    We have previously shown that the paired-box transcription factors Pax1 and Pax9 synergistically act in the proper formation of the vertebral column...
  43. Hamachi T, Sasaki Y, Hidaka K, Nakata M. Association between palatal morphogenesis and Pax9 expression pattern in CL/Fr embryos with clefting during palatal development. Arch Oral Biol. 2003;48:581-7 pubmed
    The CL/Fr mouse strain develops cleft lip and palate (CLP) spontaneously. In this study, Pax9 mRNA expression was investigated in the palatal shelves during palatal morphogenesis to assess the correlation between secondary palatal ..
  44. Liu W, Lan Y, Pauws E, Meester Smoor M, Stanier P, Zwarthoff E, et al. The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice. Development. 2008;135:3959-68 pubmed publisher
    ..Overexpression of Mn1 in NIH3T3 cells also increased endogenous Tbx22 mRNA expression in a dose-dependent manner. These data indicate that Mn1 and Tbx22 function in a novel molecular pathway regulating mammalian palate development. ..
  45. 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...
  46. Sivakamasundari V, Kraus P, Jie S, Lufkin T. Pax1(EGFP): new wildtype and mutant EGFP mouse lines for molecular and fate mapping studies. Genesis. 2013;51:420-9 pubmed publisher
    ..They can be also be used in parallel to investigate the stage- and tissue-specific molecular functions of Pax1. ..
  47. Fujimori S, Novak H, Weissenböck M, Jussila M, Gonçalves A, Zeller R, et al. Wnt/?-catenin signaling in the dental mesenchyme regulates incisor development by regulating Bmp4. Dev Biol. 2010;348:97-106 pubmed publisher
    ..This provides a mechanism whereby the number of incisors arising from one placode can be varied through local alterations of a mesenchymal signaling circuit involving ?-catenin, Lef1, Tcf1 and Bmp4. ..
  48. Beckers J, Schlautmann N, Gossler A. The mouse rib-vertebrae mutation disrupts anterior-posterior somite patterning and genetically interacts with a Delta1 null allele. Mech Dev. 2000;95:35-46 pubmed
    ..However, fine genetic mapping places rv into an interval on chromosome seven that does not contain a gene encoding a known component of the Notch signaling pathway. ..
  49. Skuntz S, Mankoo B, Nguyen M, Hustert E, Nakayama A, Tournier Lasserve E, et al. Lack of the mesodermal homeodomain protein MEOX1 disrupts sclerotome polarity and leads to a remodeling of the cranio-cervical joints of the axial skeleton. Dev Biol. 2009;332:383-95 pubmed publisher
    ..Hence, Meox1 is part of a regulatory circuit that serves an essential, non-redundant function in the maintenance of rostro-caudal sclerotome polarity and axial skeleton formation. ..
  50. Adham I, Gille M, Gamel A, Reis A, Dressel R, Steding G, et al. The scoliosis (sco) mouse: a new allele of Pax1. Cytogenet Genome Res. 2005;111:16-26 pubmed
    ..The percentage of CD90+ cells is also reduced but in contrast to other Pax1 mutants no alteration of the expression level of the CD90 (Thy-1) could be found. ..
  51. Hetzer Egger C, Schorpp M, Haas Assenbaum A, Balling R, Peters H, Boehm T. Thymopoiesis requires Pax9 function in thymic epithelial cells. Eur J Immunol. 2002;32:1175-81 pubmed
    The epithelial thymic anlage develops from the third pharyngeal pouch. Pax9 is expressed in the entire pharyngeal endoderm, and its function is required for normal development of organs derived from pharyngeal pouches...
  52. Oommen S, Otsuka Tanaka Y, Imam N, Kawasaki M, Kawasaki K, Jalani Ghazani F, et al. Distinct roles of microRNAs in epithelium and mesenchyme during tooth development. Dev Dyn. 2012;241:1465-72 pubmed publisher
    ..To investigate the role of miRNAs in tooth development, we examined mice with either mesenchymal (Wnt1Cre/Dicer(fl/fl)) or epithelial (ShhCre/Dicer(fl/fl)) conditional deletion of Dicer, which is essential for miRNA processing...
  53. 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...
  54. Tanaka M, Schinke M, Liao H, Yamasaki N, Izumo S. Nkx2.5 and Nkx2.6, homologs of Drosophila tinman, are required for development of the pharynx. Mol Cell Biol. 2001;21:4391-8 pubmed
    ..Furthermore, the development of the atrium was less advanced in the double-mutant embryos, indicating that these two genes are essential for both pharyngeal and cardiac development. ..
  55. Edlund R, Ohyama T, Kantarci H, Riley B, Groves A. Foxi transcription factors promote pharyngeal arch development by regulating formation of FGF signaling centers. Dev Biol. 2014;390:1-13 pubmed publisher
    ..Our results suggest that Foxi3 may play a role in the establishment of signaling centers in the branchial arches that are required for neural crest survival, patterning and the subsequent development of branchial arch derivatives. ..
  56. Furumoto T, Miura N, Akasaka T, Mizutani Koseki Y, Sudo H, Fukuda K, et al. Notochord-dependent expression of MFH1 and PAX1 cooperates to maintain the proliferation of sclerotome cells during the vertebral column development. Dev Biol. 1999;210:15-29 pubmed
    ..Thus, both the Mfh1 and the Pax1 gene products cooperate to mediate Sonic hedgehog-dependent proliferation of sclerotome cells. ..
  57. Grotewold L, Ruther U. The Fused toes (Ft) mouse mutation causes anteroposterior and dorsoventral polydactyly. Dev Biol. 2002;251:129-41 pubmed
    ..In addition, our analysis reveals a specific requirement of the genes deleted by the Ft mutation in hindlimb morphogenesis. ..
  58. Li D, Sakuma R, Vakili N, Mo R, Puviindran V, Deimling S, et al. Formation of proximal and anterior limb skeleton requires early function of Irx3 and Irx5 and is negatively regulated by Shh signaling. Dev Cell. 2014;29:233-40 pubmed publisher
    ..Our data provide genetic evidence supporting the concept of early specification and progressive determination of anterior limb pattern. ..
  59. Watanabe T, Tarttelin E, Neubüser A, Kimura M, Solter D. Fine genetic mapping defines the genetic order of Pax9, Tcf3a, and Acrodysplasia (Adp). Mamm Genome. 1994;5:768-70 pubmed
    ..This chromosomal region contains three loci, Pax9, Tcf3a, and Acrodysplasia (Adp), which seem to play an important role in pattern formation during mouse ..
  60. 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...
  61. Zhou J, Gao Y, Zhang Z, Zhang Y, Maltby K, Liu Z, et al. Osr2 acts downstream of Pax9 and interacts with both Msx1 and Pax9 to pattern the tooth developmental field. Dev Biol. 2011;353:344-53 pubmed publisher
    ..development depends on activation of odontogenic potential in the presumptive dental mesenchyme by the Msx1 and Pax9 transcription factors...
  62. Hill P, Wang B, Ruther U. The molecular basis of Pallister Hall associated polydactyly. Hum Mol Genet. 2007;16:2089-96 pubmed
    ..The presented findings help to understand the previously enigmatic emergence of Pallister-Hall associated polydactyly and thus add to the understanding of the pathogenic mode of the action of GLI3(PHS). ..
  63. Mitsiadis T, Graf D, Luder H, Gridley T, Bluteau G. BMPs and FGFs target Notch signalling via jagged 2 to regulate tooth morphogenesis and cytodifferentiation. Development. 2010;137:3025-35 pubmed publisher
    ..Together, these results demonstrate that Notch signalling mediated by Jag2 is indispensable for normal tooth development...
  64. Krebs O, Schreiner C, Scott W, Bell S, Robbins D, Goetz J, et al. Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud. Development. 2003;130:6037-47 pubmed
    ..We propose that the double anterior zeugopod and symmetrical central polydactyly are due to an increased and uniform concentration of the Gli3 repressor form because of lowered Shh signaling. ..
  65. Aoto K, Shikata Y, Imai H, Matsumaru D, Tokunaga T, Shioda S, et al. Mouse Shh is required for prechordal plate maintenance during brain and craniofacial morphogenesis. Dev Biol. 2009;327:106-20 pubmed publisher
    ..These findings provide new insight into the mechanism underlying HPE pathoetiology during dynamic brain and craniofacial morphogenesis. ..
  66. Thomason H, Dixon M, Dixon J. Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling. Dev Biol. 2008;321:273-82 pubmed publisher
    ..Our results are consistent with a role for Tp63 in the regulation of Bmp signaling controlling the growth, modelling and fusion events underlying facial development and shed new light on the complex abnormality of facial clefting. ..
  67. Teppner I, Becker S, de Angelis M, Gossler A, Beckers J. Compartmentalised expression of Delta-like 1 in epithelial somites is required for the formation of intervertebral joints. BMC Dev Biol. 2007;7:68 pubmed
    ..Our data suggest that the restricted Dll1 expression in caudal epithelial somites may be particularly required for the proper development of the intervertebral joint forming compartment. ..
  68. Ko S, Chung I, Xu X, Oka S, Zhao H, Cho E, et al. Smad4 is required to regulate the fate of cranial neural crest cells. Dev Biol. 2007;312:435-47 pubmed
    ..Taken together, our data show that TGF-beta/BMP signals rely on Smad-dependent pathways in the ectomesenchyme to mediate epithelial-mesenchymal interactions that control craniofacial organogenesis...
  69. Krebs L, Bradley C, Norton C, Xu J, Oram K, Starling C, et al. The Notch-regulated ankyrin repeat protein is required for proper anterior-posterior somite patterning in mice. Genesis. 2012;50:366-74 pubmed publisher
  70. Okubo T, Kawamura A, Takahashi J, Yagi H, Morishima M, Matsuoka R, et al. Ripply3, a Tbx1 repressor, is required for development of the pharyngeal apparatus and its derivatives in mice. Development. 2011;138:339-48 pubmed publisher
    ..Ripply3 represses Tbx1-induced expression of Pax9 in luciferase assays in vitro, and Ripply3-deficient embryos exhibit upregulated Pax9 expression...
  71. Almaidhan A, Cesario J, Landin Malt A, Zhao Y, Sharma N, Choi V, et al. Neural crest-specific deletion of Ldb1 leads to cleft secondary palate with impaired palatal shelf elevation. BMC Dev Biol. 2014;14:3 pubmed publisher the Ldb1 mutant palatal shelves, cell proliferation was abnormal in the anterior, and the expression of Wnt5a, Pax9 and Osr2, which regulate palatal shelf elevation, was also altered...
  72. Yamagishi C, Yamagishi H, Maeda J, Tsuchihashi T, Ivey K, Hu T, et al. Sonic hedgehog is essential for first pharyngeal arch development. Pediatr Res. 2006;59:349-54 pubmed
    ..These results demonstrate that epithelial-mesenchymal signaling and transcriptional events coordinated by Shh, partly via Fgf8, is essential for cell survival and tissue outgrowth of the developing PA1. ..
  73. Lu M, Cheng H, Kern M, Potter S, Tran B, Diekwisch T, et al. prx-1 functions cooperatively with another paired-related homeobox gene, prx-2, to maintain cell fates within the craniofacial mesenchyme. Development. 1999;126:495-504 pubmed
    ..Expression of two markers for tooth development, pax9 and patched, were downregulated...