| 1 | NKX2.1, PAX9, PPP2R3C
|
| The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency
|
| Villafuerte B, Natera-de-Benito D, González A, Mori MA, Palomares M, Nevado J, García-Miñaur S, Lapunzina P, González-Granado LI, Allende LM, Moreno JC.
|
| Eur J Med Genet. Jul;61(7):393-398. doi: 10.1016/j.ejmg.2018.02.007. Epub 2018 Feb 22. 2018
|
| 2 | PAX9
|
| Association of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations.
|
| Lee WC, Yamaguchi T, Watanabe C, Kawaguchi A, Takeda M, Kim YI, Haga S, Tomoyasu Y, Ishida H, Maki K, Park SB, Kimura R.
|
| J Hum Genet 57(10):654-9. doi: 10.1038/jhg.2012.90. Epub 2012 Jul 19.
2012
|
| 3 | MSX1, OSR2, PAX9
|
| Osr2 acts downstream of Pax9 and interacts with both Msx1 and Pax9 to pattern the tooth developmental field.
|
| Zhou J, Gao Y, Zhang Z, Zhang Y, Maltby KM, Liu Z, Lan Y, Jiang R.
|
| Dev Biol 353(2):344-53. Epub 2011 Mar 17.
2011
|
| 4 | FTA1, MSX1, OLD, PAX9
|
| PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis.
|
| Paixão-Côrtes VR, Braga T, Salzano FM, Mundstock K, Mundstock CA, Bortolini MC.
|
| Arch Oral Biol 56(4):337-44. Epub 2010 Dec 15.
2011
|
| 5 | HYD1, PAX9
|
| A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.
|
| Mendoza-Fandino GA, Gee JM, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers RM, Leal SM, Allayee H, Patel PI.
|
| Clin Genet 80(3):265-72. doi: 10.1111/j.1399-0004.2010.01529.x. Epub 2010 Sep 8.
2011
|
| 6 | FTA1, MSX1, OLD, PAX9
|
| Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis.
|
| Pinho T, Silva-Fernandes A, Bousbaa H, Maciel P.
|
| Eur J Orthod 32(5):582-8. Epub 2010 Jul 26.
2010
|
| 7 | HYD1, MSX1, PAX9
|
| Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.
|
| Wang Y, Groppe JC, Wu J, Ogawa T, Mues G, D'Souza RN, Kapadia H.
|
| Hum Mol Genet 18(15):2863-74. Epub 2009 May 9.
2009
|
| 8 | OLD, PAX9
|
| Identification and functional analysis of two novel PAX9 mutations.
|
| Wang Y, Wu H, Wu J, Zhao H, Zhang X, Mues G, D'Souza RN, Feng H, Kapadia H.
|
| Cells Tissues Organs 189(1-4):80-7. Epub 2008 Aug 14.PMID: 18701815 2009
|
| 9 | AI1C, AIH1, AIH2, AIH3, AIHHT, AIPH1, AIPH2, AMELX, AXIN1, DD2, DGI1, DLX3, DSPP, ENAM, FTA1, FTACC, KLK4, MMP20, MSX1, OLD, PAX9, STHAG5, ZNF22
|
| The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.
|
| Bailleul-Forestier I, Molla M, Verloes A, Berdal A.
|
| Eur J Med Genet 51(4):273-91. Epub 2008 Mar 26. Review.
2008
|
| 10 | PAX9, OLD
|
| A novel missense mutation in the paired domain of human PAX9 causes oligodontia.
|
| Zhao J, Hu Q, Chen Y, Luo S, Bao L, Xu Y.
|
| Am J Med Genet A 143(21):2592-7. 2007
|
| 11 | OLD, PAX9
|
| Identification of a novel mutation in the PAX9 gene in a family affected by oligodontia and other dental anomalies.
|
| Tallón-Walton V, Manzanares-Céspedes MC, Arte S, Carvalho-Lobato P, Valdivia-Gandur I, Garcia-Susperregui A, Ventura F, Nieminen P.
|
| Eur J Oral Sci 115(6):427-32.PMID: 18028048 2007
|
| 12 | PAX9
|
| Molecular characterization of a novel PAX9 missense mutation causing posterior tooth agenesis.
|
| Kapadia H, Frazier-Bowers S, Ogawa T, D'Souza RN.
|
| Eur J Hum Genet 14(4):403-9. 2006
|
| 13 | PAX9, TGFB3
|
| 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.
|
| Ichikawa E, Watanabe A, Nakano Y, Akita S, Hirano A, Kinoshita A, Kondo S, Kishino T, Uchiyama T, Niikawa N, Yoshiura K.
|
| J Hum Genet 51(1):38-46. Epub 2005 Oct 25. 2006
|
| 14 | GLI3,JAG1,PAX9
|
| Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development.
|
| McGlinn E, van Bueren KL, Fiorenza S, Mo R, Poh AM, Forrest A, Soares MB, Bonaldo Mde F, Grimmond S, Hui CC, Wainwright B, Wicking C.
|
| Mech Dev 122(11):1218-33. Epub 2005 Aug 1. 2005
|
| 15 | PAX9, OLD
|
| A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia.
|
| Jumlongras D, Lin JY, Chapra A, Seidman CE, Seidman JG, Maas RL, Olsen BR.
|
| Hum Genet 114(3):242-9. Epub 2003 Dec 19. 2004
|
| 16 | PAX9, HYD2
|
| Functional analysis of a mutation in PAX9 associated with familial tooth agenesis in humans.
|
| Mensah JK, Ogawa T, Kapadia H, Cavender AC, D'Souza RN.
|
| J Biol Chem 279(7):5924-33. Epub 2003 Nov 7. 2004
|
| 17 | HYD1, PAX9, OLD
|
| Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia.
|
| Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI.
|
| Am J Med Genet 118A(1):35-42. 2003
|
| 18 | FOXG1, KDM5B, PAX9
|
| Human PLU-1 Has transcriptional repression properties and interacts with the developmental transcription factors BF-1 and PAX9.
|
| Tan K, Shaw AL, Madsen B, Jensen K, Taylor-Papadimitriou J, Freemont PS.
|
| J Biol Chem 278(23):20507-13. Epub 2003 Mar 25. 2003
|
| 19 | PAX1, PAX9
|
| Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review.
|
| Bannykh SI, Emery SC, Gerber JK, Jones KL, Benirschke K, Masliah E.
|
| Am J Med Genet A 120(2):241-6. Review. 2003
|
| 20 | PAX9, HYD1
|
| Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.
|
| Das P, Stockton DW, Bauer C, Shaffer LG, D'Souza RN, Wright T, Patel PI.
|
| Hum Genet 110(4):371-6. Epub 2002 Mar 14. 2002
|
| 21 | PAX9, OLD
|
| Identification of a nonsense mutation in the PAX9 gene in molar oligodontia.
|
| Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleft I, Pirinen S.
|
| Eur J Hum Genet 9 : 743-746. 2001
|
| 22 | PAX9, OLD
|
| Mutation of PAX9 is associated with oligodontia.
|
| Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI.
|
| Nat Genet 24(1):18-9. No abstract available 2000
|
| 23 | DEL14QP, PAX9
|
| De novo deletion (14)(q11.2q13) including PAX9 : clinical and molecular findings.
|
| Schuffenhauer S, et al.
|
| J Med Genet 36 : 233-236. 1999
|
| 24 | PAX9
|
| Isolation of the PAX9 cDNA from adult human esophagus.
|
| Peters H, et al.
|
| Mamm Genome 8 : 62-64. 1997
|
| 25 | PAX2, PAX4, PAX5, PAX7, PAX8, PAX9
|
| Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.
|
| Stapleton P, et al.
|
| Nat Genet 3 : 292-298. 1993
|