Citations for
Evidence for intermediate mesoderm and kidney progenitor cell specification by Pax2 and PTIP dependent mechanisms.
Ranghini EJ, Dressler GR.
Dev Biol 399(2):296-305. doi: 10.1016/j.ydbio.2015.01.005. Epub 2015 Jan 21. 2015
The Groucho-associated phosphatase PPM1B displaces Pax transactivation domain interacting protein (PTIP) to switch the transcription factor Pax2 from a transcriptional activator to a repressor.
Abraham S, Paknikar R, Bhumbra S, Luan D, Garg R, Dressler GR, Patel SR.
J Biol Chem 290(11):7185-94. doi: 10.1074/jbc.M114.607424. Epub 2015 Jan 28. 2015
The potential signal pathway between PAX2 and CD2AP in the renal interstitial fibrosis disease.
Xu HL, Ou C, Rong L, Zhou TB.
J Recept Signal Transduct Res 34(4):290-8. doi: 10.3109/10799893.2013.876045. Epub 2014 Jan 28. 2014
PAX8 and PAX2 expression in endocervical adenocarcinoma in situ and high-grade squamous dysplasia.
Shukla A, Thomas D, Roh MH.
Int J Gynecol Pathol 32(1):116-21. doi: 10.1097/PGP.0b013e318257df46. 2013
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, Decramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L.
Hum Mutat 33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31. 2012
Signaling pathways of PAX2 and its role in renal interstitial fibrosis and glomerulosclerosis.
Zhou TB.
J Recept Signal Transduct Res 32(6):298-303. doi: 10.3109/10799893.2012.738231. Epub 2012 Nov 9. Review. 2012
PAX2 protein induces expression of cyclin D1 through activating AP-1 protein and promotes proliferation of colon cancer cells.
Zhang HS, Yan B, Li XB, Fan L, Zhang YF, Wu GH, Li M, Fang J.
J Biol Chem 287(53):44164-72. doi: 10.1074/jbc.M112.401521. Epub 2012 Nov 7. 2012
A p53-Pax2 pathway in kidney development: implications for nephrogenesis.
Saifudeen Z, Liu J, Dipp S, Yao X, Li Y, McLaughlin N, Aboudehen K, El-Dahr SS.
PLoS One 7(9):e44869. doi: 10.1371/journal.pone.0044869. Epub 2012 Sep 12. 2012
PAX2 is an antiapoptotic molecule with deregulated expression in medulloblastoma.
Burger MC, Brucker DP, Baumgarten P, Ronellenfitsch MW, Wanka C, Hasselblatt M, Eccles MR, Klingebiel T, Weller M, Rieger J, Mittelbronn M, Steinbach JP.
Int J Oncol 41(1):235-41. doi: 10.3892/ijo.2012.1446. Epub 2012 Apr 25. 2012
Hnf1b and Pax2 cooperate to control different pathways in kidney and ureter morphogenesis.
Paces-Fessy M, Fabre M, Lesaulnier C, Cereghini S.
Hum Mol Genet 21(14):3143-55. doi: 10.1093/hmg/dds141. Epub 2012 Apr 17. 2012
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA.
Genet Med 13(5):437-442. 2011
12MEN1, PAX2, WT1
Tumor suppressor menin represses paired box gene 2 expression via Wilms tumor suppressor protein-polycomb group complex.
Xu B, Zeng DQ, Wu Y, Zheng R, Gu L, Lin X, Hua X, Jin GH.
J Biol Chem 286(16):13937-44. Epub 2011 Mar 4. 2011
Renal coloboma syndrome.
Schimmenti LA.
Eur J Hum Genet 19(12):1207-12. doi: 10.1038/ejhg.2011.102. Epub 2011 Jun 8. Review. 2011
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
Thomas R, Sanna-Cherchi S, Warady BA, Furth SL, Kaskel FJ, Gharavi AG.
Pediatr Nephrol 26(6):897-903. doi: 10.1007/s00467-011-1826-9. Epub 2011 Mar 5. 2011
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.
Cross SH, McKie L, West K, Coghill EL, Favor J, Bhattacharya S, Brown SD, Jackson IJ.
Hum Mol Genet 20(2):223-34. doi: 10.1093/hmg/ddq457. Epub 2010 Oct 13. 2011
16PAX2, PAX8
PAX2 and PAX8 expression in primary and metastatic müllerian epithelial tumors: a comprehensive comparison.
Ozcan A, Liles N, Coffey D, Shen SS, Truong LD.
Am J Surg Pathol 35(12):1837-47. doi: 10.1097/PAS.0b013e31822d787c. 2011
Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human.
Alur RP, Vijayasarathy C, Brown JD, Mehtani M, Onojafe IF, Sergeev YV, Boobalan E, Jones M, Tang K, Liu H, Xia CH, Gong X, Brooks BP.
PLoS Genet 6(3):e1000870.PMID: 20221250 2010
PAX2 mutations in fetal renal hypodysplasia.
Martinovic-Bouriel J, Benachi A, Bonnière M, Brahimi N, Esculpavit C, Morichon N, Vekemans M, Antignac C, Salomon R, Encha-Razavi F, Attié-Bitach T, Gubler MC.
Am J Med Genet A 152A(4):830-5.PMID: 20358591 2010
An intron 9 containing splice variant of PAX2.
Busse A, Rietz A, Schwartz S, Thiel E, Keilholz U.
J Transl Med 7:36.PMID: 19467152 2009
PAX2 expression in low malignant potential ovarian tumors and low-grade ovarian serous carcinomas.
Tung CS, Mok SC, Tsang YT, Zu Z, Song H, Liu J, Deavers MT, Malpica A, Wolf JK, Lu KH, Gershenson DM, Wong KK.
Mod Pathol 22(9):1243-50. Epub 2009 Jun 12.PMID: 19525924 2009
PAX2 oncogene negatively regulates the expression of the host defense peptide human beta defensin-1 in prostate cancer.
Bose SK, Gibson W, Bullard RS, Donald CD.
Mol Immunol 46(6):1140-8. Epub 2008 Dec 31. 2009
WNT5A is regulated by PAX2 and may be involved in blastemal predominant Wilms tumorigenesis.
Tamimi Y, Ekuere U, Laughton N, Grundy P.
Neoplasia 10(12):1470-80.PMID: 19048125 2008
In vivo validation of PAX2 as a target for renal cancer therapy.
Hueber PA, Iglesias D, Chu LL, Eccles M, Goodyer P.
Cancer Lett 265(1):148-55. Epub 2008 Apr 24.PMID: 18439754 2008
Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype.
Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, Dello Strologo L.
Clin Nephrol 67(1):1-4.PMID: 17269592 2007
The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex.
Patel SR, Kim D, Levitan I, Dressler GR.
Dev Cell 13(4):580-92.PMID: 17925232 2007
Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.
Marini M, Giacopelli F, Seri M, Ravazzolo R.
Eur J Hum Genet 13(6):789-92. 2005
Hypomethylation-linked activation of PAX2 mediates tamoxifen-stimulated endometrial carcinogenesis.
Wu H, Chen Y, Liang J, Shi B, Wu G, Zhang Y, Wang D, Li R, Yi X, Zhang H, Sun L, Shang Y.
Nature 438(7070):981-7. 2005
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.
Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Juppner H, Alexander SI.
J Am Soc Nephrol 16(9):2754-61. Epub 2005 Jul 27. Review. 2005
Expression of the PAX2 oncogene in human breast cancer and its role in progesterone-dependent mammary growth.
Silberstein GB, Dressler GR, Van Horn K.
Oncogene 21(7):1009-16. 2002
PAX2 mutations in oligomeganephronia.
Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M.
Kidney Int 59(2):457-62. 2001
PAX2 gene mutation in a family with isolated renal hypoplasia.
Nishimoto K, Iijima K, Shirakawa T, Kitagawa K, Satomura K, Nakamura H, Yoshikawa N.
J Am Soc Nephrol 12(8):1769-72. 2001
PAX2 gene mutation in a family with isolated renal hypoplasia.
Nishimoto K, Iijima K, Shirakawa T, Kitagawa K, Satomura K, Nakamura H, Yoshikawa N.
J Am Soc Nephrol 12(8):1769-72. 2001
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.
Porteous S, Torban E, Cho NP, Cunliffe H, Chua L, McNoe L, Ward T, Souza C, Gus P, Giugliani R, Sato T, Yun K, Favor J, Sicotte M, Goodyer P, Eccles M.
Hum Mol Genet 9(1):1-11 2000
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Auge J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attie-Bitach T.
Eur J Hum Genet 8(11):820-6. 2000
35PAX2, NR2E1
The orphan nuclear receptor Tlx regulates Pax2 and is essential for vision.
Yu RT, Chiang MY, Tanabe T, Kobayashi M, Yasuda K, Evans RM, Umesono K.
Proc Natl Acad Sci U S A 97(6):2621-5. 2000
36PAX2, WT1
WT1 and PAX-2 podocyte expression in Denys-Drash syndrome and isolated diffuse mesangial sclerosis.
Yang Y, et al.
Am J Pathol 154(1):181-92. 1999
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.
Eccles MR, et al.
Clin Genet 56(1):1-9. 1999
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome.
Schimmenti LA, et al.
Hum Mutat 14(5):369-376 1999
Pax2 in development and renal disease.
Dressler GR, Woolf AS.
Int J Dev Biol 43(5):463-8. Review 1999
A novel paired domain DNA recognition motif can mediate Pax2 repression of gene transcription.
Havik B, Ragnhildstveit E, Lorens JB, Saelemyr K, Fauske O, Knudsen LK, Fjose A.
Biochem Biophys Res Commun 266(2):532-41. 1999
Identification of two single nucleotide polymorphisms in exon 8 of PAX2.
Shim HH, Nakamura BN, Cantor RM, Schimmenti LA.
Mol Genet Metab 68(4):507-10. 1999
42ETS1, PAX2, PAX3, PAX5
The highly conserved beta-hairpin of the paired DNA-binding domain is required for assembly of Pax-Ets ternary complexes.
Wheat W, Fitzsimmons D, Lennox H, Krautkramer SR, Gentile LN, McIntosh LP, Hagman J.
Mol Cell Biol 19(3):2231-41. 1999
Absence of PAX2 gene mutations in patients with primary familial vesicoureteric reflux.
Choi KL, et al.
J Med Genet 35 : 338-339. 1998
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.
Cunliffe HE, et al.
J Med Genet 35 : 806-812. 1998
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).
Devriendt K, et al.
Hum Genet 103 : 149-153. 1998
Cloning and characterization of the human PAX2 promoter.
Stayner CK, et al.
J Biol Chem 273 : 25472-25479. 1998
Localisation of a 10q breakpoint within the PAX2 gene in patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.
Narahara K, et al.
J Med Genet 34 : 213-216. 1997
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.
Schimmenti LA, et al.
Am J Hum Genet 60 : 869-878. 1997
An integrated physical and genetic map spanning chromosome band 10q24.
Gray IC, Fallowfield J, Ford S, Nobile C, Volpi EV, Spurr NK.
Genomics 43(1):85-8. 1997
PAX2 mutation identified in a patient with renal-coloboma syndrome and vesicoureteric reflux (VUR) : analysis of 43 patients with coloboma and/or urogenital anormalies. (abstr)
Eccles MR, et al.
Am J Hum Genet 61 : A332. 1997
Alternative splicing in PAX2 generates a new reading frame and an extended conserved coding region at the carboxy terminus.
Tavassoli K, Ruger W, Horst J.
Hum Genet 101(3):371-5. 1997
Genomic structure of the human PAX2 gene.
Sanyanusin P, et al.
Genomics 35 : 258-261. 1996
The PAX2 transcription factor is expressed in cystic and hyperproliferative dysplastic epithelial in human kidney malformations.
Winyard PJD, et al.
J Clin Invest 98 : 451-459. 1996
The mouse Pax2 1Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney.
Favor J, et al.
Proc Natl Acad Sci U S A 93 : 13870-13875. 1996
Mutation of PAX2 in two siblings with renal-coloboma syndrome.
Sanyanusin P, et al.
Hum Mol Genet 4 : 2183-2184. 1995
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
Schimmenti LA, et al.
Am J Med Genet 59 : 204-208. 1995
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Sanyanusin P, et al.
Nat Genet 9 : 358-363. 1995
Congenital nephrotic syndrome of the finnish type is not associated with the pax-2 gene despite the promising transgenic animal model.
KestilŠ M, et al.
Genomics 19 : 570-572. 1994
Alternative messenger RNA forms and open reading frames within an additional conserved region of the human PAX-2 gene.
Ward TA, Nebel A, Reeve AE, Eccles MR.
Cell Growth Differ 5(9):1015-21.PMID: 7819127 1994
60PAX2, 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
Cloning and chromosomal localization of human pax2 gene to 10q22.1-q24.3.
Eccles M, et al.
Am J Hum Genet 49S : 403. 1991