| 1 | CHNG2, LHX1, MDFH, MRKH, PAX8, WNT4
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| Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome
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| Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z. Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L.
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| Am J Hum Genet. Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. 2021
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| 2 | MECOM, PAX8
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| PAX8 and MECOM are interaction partners driving ovarian cancer.2021 PMID:
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| Voshol J, Bechter E, Hamon J, Meyerhofer M, Erdmann D, Fischer M, Stachyra T, Freuler F, Gutmann S, Fernández C, Schmelzle T, Naumann U, Roma G, Lawrenson K, Nieto-Oberhuber C, Cobos-Correa A, Ferretti S, Schübeler D, Galli GG.
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| Nat Commun. Apr 26;12(1):2442. doi: 10.1038/s41467-021-22708-w. 2021
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| 3 | NRP2, PAX8
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| Neuropilin-2 Is a Newly Identified Target of PAX8 in Thyroid Cells.
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| Lucci V, Di Palma T, Zannini M.
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| PLoS One 10(6):e0128315. doi: 10.1371/journal.pone.0128315. eCollection 2015.
2015
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| 4 | PAX2, PAX8
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| PAX8 and PAX2 expression in endocervical adenocarcinoma in situ and high-grade squamous dysplasia.
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| Shukla A, Thomas D, Roh MH.
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| Int J Gynecol Pathol 32(1):116-21. doi: 10.1097/PGP.0b013e318257df46.
2013
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| 5 | CHNG2, PAX8
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| Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
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| Narumi S, Araki S, Hori N, Muroya K, Yamamoto Y, Asakura Y, Adachi M, Hasegawa T.
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| Eur J Endocrinol 167(5):625-32. doi: 10.1530/EJE-12-0410. Epub 2012 Aug 16. 2012
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| 6 | CDH16, PAX8
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| An essential role for Pax8 in the transcriptional regulation of cadherin-16 in thyroid cells.
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| de Cristofaro T, Di Palma T, Fichera I, Lucci V, Parrillo L, De Felice M, Zannini M.
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| Mol Endocrinol 26(1):67-78. doi: 10.1210/me.2011-1090. Epub 2011 Dec 1.
2012
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| 7 | PAX8
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| The defects in development and apoptosis of cardiomyocytes in mice lacking the transcriptional factor Pax-8.
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| Yang D, Lai D, Huang X, Shi X, Gao Z, Huang F, Zhou X, Geng YJ.
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| Int J Cardiol 154(1):43-51. doi: 10.1016/j.ijcard.2010.08.057. Epub 2010 Sep 20.
2012
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| 8 | PAX8
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| PAX8 promotes tumor cell growth by transcriptionally regulating E2F1 and stabilizing RB protein.
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| Li CG, Nyman JE, Braithwaite AW, Eccles MR.
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| Oncogene 30(48):4824-34. doi: 10.1038/onc.2011.190. Epub 2011 May 23.
2011
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| 9 | PAX2, PAX8
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| PAX2 and PAX8 expression in primary and metastatic müllerian epithelial tumors: a comprehensive comparison.
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| Ozcan A, Liles N, Coffey D, Shen SS, Truong LD.
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| Am J Surg Pathol 35(12):1837-47. doi: 10.1097/PAS.0b013e31822d787c.
2011
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| 10 | PAX8
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| Identification of novel Pax8 targets in FRTL-5 thyroid cells by gene silencing and expression microarray analysis.
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| Di Palma T, Conti A, de Cristofaro T, Scala S, Nitsch L, Zannini M.
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| PLoS One 6(9):e25162. doi: 10.1371/journal.pone.0025162. Epub 2011 Sep 23.
2011
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| 11 | PAX8
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| Pax8: a marker for carcinoma of Müllerian origin in serous effusions.
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| Tong GX, Devaraj K, Hamele-Bena D, Yu WM, Turk A, Chen X, Wright JD, Greenebaum E.
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| Diagn Cytopathol 39(8):567-74. doi: 10.1002/dc.21426. Epub 2010 Jul 6.
2011
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| 12 | CHNG2, PAX8
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| Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.
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| Mahjoubi F, Mohammadi MM, Montazeri M, Aminii M, Hashemipour M.
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| Arq Bras Endocrinol Metabol 54(6):555-9. 2010
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| 13 | CHNG2, PAX8
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| Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism.
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| Di Palma T, Zampella E, Filippone MG, Macchia PE, Ris-Stalpers C, de Vroede M, Zannini M.
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| Clin Endocrinol (Oxf) 73(6):808-14. doi: 10.1111/j.1365-2265.2010.03851.x. 2010
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| 14 | PAX8
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| Expression of PAX8 in normal and neoplastic renal tissues: an immunohistochemical study.
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| Tong GX, Yu WM, Beaubier NT, Weeden EM, Hamele-Bena D, Mansukhani MM, O'Toole KM.
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| Mod Pathol 22(9):1218-27. doi: 10.1038/modpathol.2009.88. Epub 2009 Jun 12.
2009
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| 15 | PAX8
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| PAX8 regulates telomerase reverse transcriptase and telomerase RNA component in glioma.
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| Chen YJ, Campbell HG, Wiles AK, Eccles MR, Reddel RR, Braithwaite AW, Royds JA.
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| Cancer Res 68(14):5724-32.PMID: 18632625 2008
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| 16 | PAX8, PPARG
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| PAX8-peroxisome proliferator-activated receptor gamma (PPARgamma) disrupts normal PAX8 or PPARgamma transcriptional function and stimulates follicular thyroid cell growth.
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| Au AY, McBride C, Wilhelm KG Jr, Koenig RJ, Speller B, Cheung L, Messina M, Wentworth J, Tasevski V, Learoyd D, Robinson BG, Clifton-Bligh RJ.
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| Endocrinology 147(1):367-76. Epub 2005 Sep 22. 2006
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| 17 | PAX8, PPARG
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| Expression profiling reveals a distinct transcription signature in follicular thyroid carcinomas with a PAX8-PPAR(gamma) fusion oncogene.
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| Lui WO, Foukakis T, Liden J, Thoppe SR, Dwight T, Hoog A, Zedenius J, Wallin G, Reimers M, Larsson C.
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| Oncogene 24(8):1467-76. 2005
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| 18 | PAX8, EP300
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| Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.
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| Grasberger H, Ringkananont U, Lefrancois P, Abramowicz M, Vassart G, Refetoff S.
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| Mol Endocrinol 19(7):1779-91. Epub 2005 Feb 17. 2005
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| 19 | WBP2, PAX8
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| WBP-2, a WW domain binding protein, interacts with the thyroid-specific transcription factor Pax8.
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| Nitsch R, Di Palma T, Mascia A, Zannini M.
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| Biochem J 377(Pt 3):553-60. 2004
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| 20 | PAX8, TTF1
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| The paired domain-containing factor Pax8 and the homeodomain-containing factor TTF-1 directly interact and synergistically activate transcription.
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| Di Palma T, Nitsch R, Mascia A, Nitsch L, Di Lauro R, Zannini M.
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| J Biol Chem 278(5):3395-402. 2003
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| 21 | CBWD1, CBWD2, FAM138A, FOXD4, FOXD4L1, PAX8, RABL2A, RPL23AP7, PSD4, FOXD4L3
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| Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions.
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| Fan Y, Newman T, Linardopoulou E, Trask BJ.
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| Genome Res 12(11):1663-72. 2002
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| 22 | CHNG2, PAX8
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| Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.
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| Vilain C, Rydlewski C, Duprez L, Heinrichs C, Abramowicz M, Malvaux P, Renneboog B, Parma J, Costagliola S, Vassart G.
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| J Clin Endocrinol Metab 86(1):234-8. 2001
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| 23 | PAX8, DIDAN
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| PAX8-PPARgamma1 fusion in oncogene human thyroid carcinoma.
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| Kroll TG, Sarraf P, Pecciarini L, Chen CJ, Mueller E, Spiegelman BM, Fletcher JA.
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| Science 289(5483):1357-60. 2000
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| 24 | PAX8
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| Expression of Pax-8, p53 and bcl-2 in human benign and malignant thyroid diseases.
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| Puglisi F, Cesselli D, Damante G, Pellizzari L, Beltrami CA, Di Loreto C.
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| Anticancer Res 20(1A):311-6. 2000
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| 25 | PAX8
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| Pax8 has a key role in thyroid cell differentiation.
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| Pasca di Magliano M, Di Lauro R, Zannini M.
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| Proc Natl Acad Sci U S A 97(24):13144-9. 2000
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| 26 | PAX8
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| Follicular cells of the thyroid gland require Pax8 gene function.
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| Mansouri A, et al.
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| Nat Genet 19 : 87-90. 1998
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| 27 | CHNG2, PAX8
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| PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.
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| Macchia PE, et al.
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| Nat Genet 19 : 83-86. 1998
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| 28 | PAX8
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| Pax-8 protein levels regulate thyroglobulin gene expression.
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| Fabbro D, Pellizzari L, Mercuri F, Tell G, Damante G.
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| J Mol Endocrinol 21 : 347-354. 1998
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| 29 | PAX8
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| F329L polymorphism in the human PAX8 gene.
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| Torban E, Pelletier J, Goodyer P.
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| Am J Med Genet 72(2):186-7. 1997
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| 30 | PAX8
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| PAX 8 regulates human WT1 transcription through a novel DNA binding site.
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| Fraizer GC, Shimamura R, Zhang X, Saunders GF.
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| J Biol Chem 272(49):30678-87. 1997
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| 31 | PAX2, PAX4, PAX5, PAX7, PAX8, PAX9
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| Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9.
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| Stapleton P, et al.
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| Nat Genet 3 : 292-298. 1993
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| 32 | PAX8
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| PAX8, a human paired box gene : isolation and expression in developing thyroid, kidney and Wilms' tumors.
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| Poleev A, et al.
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| Development 116 : 611-623. 1992
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