| 1 | IRF2BPL, NEDAMSS
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| IRF2BPL Is Associated with Neurological Phenotypes.
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| Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network, Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM.
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| Am J Hum Genet 103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.
2018
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| 2 | IRF2BPL, NEDAMSS
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| De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
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| Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM Jr, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A.
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| Genet Med enet Med. 2018 Aug 31. doi: 10.1038/s41436-018-0143-0. [Epub ahead of print]
2018
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| 3 | FOXF2, IRF2BPL
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| Forkhead Box F2 Suppresses Gastric Cancer through a Novel FOXF2-IRF2BPL-β-Catenin Signaling Axis.
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| Higashimori A, Dong Y, Zhang Y, Kang W, Nakatsu G, Ng SSM, Arakawa T, Sung JJY, Chan FKL, Yu J.
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| Cancer Res 78(7):1643-1656. doi: 10.1158/0008-5472.CAN-17-2403. Epub 2018 Jan 26.
2018
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| 4 | GNRH1, IRF2BPL
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| Enhanced at Puberty-1 (Eap1) Expression Critically Regulates the Onset of Puberty Independent of Hypothalamic Kiss1 Expression.
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| Li C, Li P.
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| Cell Physiol Biochem 43(4):1402-1412. doi: 10.1159/000481872. Epub 2017 Oct 11.
2017
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| 5 | IRF2BPL
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| Hypothalamic EAP1 (enhanced at puberty 1) is required for menstrual cyclicity in nonhuman primates.
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| Dissen GA, Lomniczi A, Heger S, Neff TL, Ojeda SR.
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| Endocrinology 153(1):350-61. doi: 10.1210/en.2011-1541. Epub 2011 Nov 29.
2012
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| 6 | IRF2BPL
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| A single-nucleotide polymorphism in the EAP1 gene is associated with amenorrhea/oligomenorrhea in nonhuman primates.
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| Lomniczi A, Garcia-Rudaz C, Ramakrishnan R, Wilmot B, Khouangsathiene S, Ferguson B, Dissen GA, Ojeda SR.
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| Endocrinology 153(1):339-49. doi: 10.1210/en.2011-1540. Epub 2011 Nov 29.
2012
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| 7 | FASTKD2, IRF2BP1, IRF2BP2, IRF2BPL, ITGB3BP
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| A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.
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| Yeung KT, Das S, Zhang J, Lomniczi A, Ojeda SR, Xu CF, Neubert TA, Samuels HH.
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| Mol Cell Biol 31(11):2287-98. Epub 2011 Mar 28. 2011
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| 8 | IRF2BPL
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| Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.
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| Heger S, Mastronardi C, Dissen GA, Lomniczi A, Cabrera R, Roth CL, Jung H, Galimi F, Sippell W, Ojeda SR.
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| J Clin Invest 117(8):2145-54. 2007
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| 9 | IRF2BPL
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| Mapping of the bovine homologue of the human chromosome 14 open reading frame 4 (C14orf4) gene to BTA10q36.
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| Drögemüller C, Kuiper H, Spötter A, Williams JL, Distl O.
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| Anim Genet 35(6):498-9. No abstract available.
2004
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| 10 | ABLIM2, ACSS1, ATCAY, ATP13A1, BRSK1, CAPRIN2, CCDC132, CDH23, CHAMP1, COL27A1, EHMT1, FBN3, FNDC1, GMPPB, GPR123, GPS2, HHIPL1, IRF2BPL, JPH4, KBTBD8, KIAA1841, KIRREL3, KIRREL3, MEGF10, MEGF11, MLK4, NTNG2, PHF17, PHYHIPL, RANGAP1, SEMA6C, SLX4, SPIRE2, SRRM4, ST6GAL2, SYVN1, TTBK1, VCPIP1, WDR22, ZNF286A, ZNF333, ZNF512, ZNF528
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| Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O.
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| DNA Res 8(2):85-95. 2001
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| 11 | IRF2BPL
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| Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.
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| Rampazzo A, Pivotto F, Occhi G, Tiso N, Bortoluzzi S, Rowen L, Hood L,Nava A, Danieli GA.
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| Biochem Biophys Res Commun 278(3):766-74. 2000
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