| 1 | CPHD1, POU1F1
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| High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
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| Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA.
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| Am J Hum Genet. Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15 2021
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| 2 | LDHA, POU1F1
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| POU1F1 transcription factor induces metabolic reprogramming and breast cancer progression via LDHA regulation
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| Martínez-Ordoñez A, Seoane S, Avila L, Eiro N, Macía M, Arias E, Pereira F, García-Caballero T, Gómez-Lado N, Aguiar P, Vizoso F, Perez-Fernandez R.
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| Oncogene. Apr;40(15):2725-2740. doi: 10.1038/s41388-021-01740-6. Epub 2021 Mar 13. 2021
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| 3 | ADTRP, POU1F1, TFPI
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| ADTRP regulates TFPI expression via transcription factor POU1F1 involved in coronary artery disease
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| Luo C, Pook E, Wang F, Archacki SR, Tang B, Zhang W, Hu JS, Yang J, Leineweber K, Bechem M, Huang W, Song Y, Cheung SH, Laux V, Ke T, Ren X, Tu X, Chen Q, Wang QK, Xu C
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| gene Aug 30;753:144805. doi: 10.1016/j.gene.2020.144805. Epub 2020 May 20. 2020
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| 4 | CPHD1, POU1F1
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| A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.
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| Takagi M, Kamasaki H, Yagi H, Fukuzawa R, Narumi S, Hasegawa T.
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| Endocr J. Feb 27;64(2):229-234. doi: 10.1507/endocrj.EJ16-0361. Epub 2016 Nov 22. 2017
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| 5 | CPHD1, POU1F1
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| Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD
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| Sobrier ML, Tsai YC, Pérez C, Leheup B, Bouceba T, Duquesnoy P, Copin B, Sizova D, Penzo A, Stanger BZ, Cooke NE, Liebhaber SA, Amselem S.
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| Hum Mol Genet. Feb 1;25(3):472-83. doi: 10.1093/hmg/ddv486. Epub 2015 Nov 26. 2016
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| 6 | NUP98, POU1F1
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| POU1F1 is a novel fusion partner of NUP98 in acute myeloid leukemia with t(3;11)(p11;p15).
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| Lisboa S, Cerveira N, Bizarro S, Correia C, Vieira J, Torres L, Mariz JM, Teixeira MR.
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| Mol Cancer 12:5. doi: 10.1186/1476-4598-12-5.
2013
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| 7 | HMGA1, HMGA2, POU1F1
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| PIT1 upregulation by HMGA proteins has a role in pituitary tumorigenesis PMID:
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| F, Cappabianca P, Wierinckx A, Vitiello M, Lombardi G, Colao A, Trouillas J, Pierantoni GM, Fusco A, Fedele M.
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| Endocr Relat Cancer. Apr 10;19(2):123-35. doi: 10.1530/ERC-11-0135 2012
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| 8 | CHMP2B, DEL3QO, POU1F1, VGLL3
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| Homozygous microdeletion of the POU1F1, CHMP2B, and VGLL3 genes in chromosome 3-A novel syndrome.
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| Gat-Yablonski G, David RF, Bar M, Potievsky O, Phillip M, Lazar L.
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| Am J Med Genet A 155(9):2242-6. doi: 10.1002/ajmg.a.34136. Epub 2011 Aug 3.
2011
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| 9 | ANKH, POU1F1
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| The CPPDD-associated ANKH M48T mutation interrupts the interaction of ANKH with the sodium/phosphate cotransporter PiT-1.
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| Wang J, Tsui HW, Beier F, Tsui FW.
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| J Rheumatol 36(6):1265-72. Epub 2009 Apr 15.PMID: 19369455 2009
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| 10 | POU1F1, ZFHX3
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| Atbf1 is required for the Pit1 gene early activation.
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| Qi Y, Ranish JA, Zhu X, Krones A, Zhang J, Aebersold R, Rose DW, Rosenfeld MG, Carrière C.
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| Proc Natl Acad Sci U S A 105(7):2481-6. Epub 2008 Feb 13. 2008
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| 11 | POU1F1
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| Positive association between POU1F1 and mental retardation in young females in the Chinese Han population.
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| Sun Y, Zhang F, Gao J, Gao X, Guo T, Zhang K, Shi Y, Zheng Z, Tang W, Zheng Y, Li S, Li X, Feng G, Shen X, He L.
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| Hum Mol Genet 15(7):1237-43. Epub 2006 Feb 27. 2006
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| 12 | HESX1, PROP1, POU1F1, CPHD1, CPHD2, SOPT
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| Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.
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| Rainbow LA, Rees SA, Shaikh MG, Shaw NJ, Cole T, Barrett TG, Kirk JM.
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| Clin Endocrinol (Oxf) 62(2):163-8. 2005
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| 13 | OGN, POU1F1
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| The mimecan gene expressed in human pituitary and regulated by pituitary transcription factor-1 as a marker for diagnosing pituitary tumors.
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| Hu SM, Li F, Yu HM, Li RY, Ma QY, Ye TJ, Lu ZY, Chen JL, Song HD.
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| J Clin Endocrinol Metab 90(12):6657-64. Epub 2005 Sep 27. 2005
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| 14 | POU1F1
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| Structural characterization of the PIT-1/ETS-1 interaction: PIT-1 phosphorylation regulates PIT-1/ETS-1 binding.
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| Augustijn KD, Duval DL, Wechselberger R, Kaptein R, Gutierrez-Hartmann A, van der Vliet PC.
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| Proc Natl Acad Sci U S A 99(20):12657-62. 2002
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| 15 | POU1F1
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| Species-specific mechanisms control the activity of the Pit1/PIT1 phosphate transporter gene promoter in mouse and human.
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| Palmer G, Manen D, Bonjour JP, Caverzasio J.
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| Gene 279(1):49-62. 2001
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| 16 | GATA2, POU1F1
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| Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types.
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| Dasen JS, et al.
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| Cell 97(5):587-98. 1999
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| 17 | CPHD1, POU1F1
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| Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia : a clue to a PIT-1 mutation.
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| Ward L, et al.
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| J Pediatr 132 : 1036-1038. 1998
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