| 1 | MCPH24, NPHS12, NPHS13, NUP107, NUP205, NUP37, NUP93, SRN6
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| Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
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| Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F.
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| J Clin Invest 128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4.
2018
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| 2 | NPHS17, NUP107, NUP205, NUP85, NUP93, SRN6
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| Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
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| Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F
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| J Clin Invest. Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4 2018
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| 3 | NPHS12, NPHS13, NUP205, NUP93, XPO5
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| Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
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| Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, Hermle T, Kemper MJ, Pohl M, Ozaltin F, Konrad M, Bogdanovic R, Büscher R, Helmchen U, Serdaroglu E, Lifton RP, Antonin W, Hildebrandt F.
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| Nat Genet 48(4):457-65. doi: 10.1038/ng.3512. Epub 2016 Feb 15.
2016
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| 4 | NUP188, NUP205, NUP93
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| HOXA repression is mediated by nucleoporin Nup93 assisted by its interactors Nup188 and Nup205.
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| Labade AS, Karmodiya K, Sengupta K.
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| Epigenetics Chromatin 9:54. eCollection 2016.
2016
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| 5 | NUP188, NUP93
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| Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.
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| Del Viso F, Huang F, Myers J, Chalfant M, Zhang Y, Reza N, Bewersdorf J, Lusk CP, Khokha MK.
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| Dev Cell 38(5):478-92. doi: 10.1016/j.devcel.2016.08.002. Epub 2016 Sep 1.
2016
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| 6 | NUP155, NUP62, NUP93
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| A negative loop within the nuclear pore complex controls global chromatin organization.
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| Breuer M, Ohkura H.
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| Genes Dev 29(17):1789-94. doi: 10.1101/gad.264341.115.
2015
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| 7 | NUP93
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| The diverse roles of the Nup93/Nic96 complex proteins - structural scaffolds of the nuclear pore complex with additional cellular functions.
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| Vollmer B, Antonin W.
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| Biol Chem 395(5):515-28. doi: 10.1515/hsz-2013-0285. Review.
2014
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| 8 | NUP93
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| The C-terminal domain of Nup93 is essential for assembly of the structural backbone of nuclear pore complexes.
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| Sachdev R, Sieverding C, Flötenmeyer M, Antonin W.
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| Mol Biol Cell 23(4):740-9. doi: 10.1091/mbc.E11-09-0761. Epub 2011 Dec 14.
2012
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| 9 | NDC1, NUP153, NUP160, NUP93
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| Heart failure induces significant changes in nuclear pore complex of human cardiomyocytes.
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| Tarazón E, Rivera M, Roselló-Lletí E, Molina-Navarro MM, Sánchez-Lázaro IJ, España F, Montero JA, Lago F, González-Juanatey JR, Portolés M.
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| PLoS One 7(11):e48957. doi: 10.1371/journal.pone.0048957. Epub 2012 Nov 12.
2012
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| 10 | NUP188, NUP93
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| The nucleoporin Nup188 controls passage of membrane proteins across the nuclear pore complex.
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| Theerthagiri G, Eisenhardt N, Schwarz H, Antonin W.
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| J Cell Biol 189(7):1129-42. Epub 2010 Jun 21.
2010
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| 11 | NUP205, NUP93
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| Specific nucleoporin requirement for Smad nuclear translocation.
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| Chen X, Xu L.
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| Mol Cell Biol 30(16):4022-34. Epub 2010 Jun 14.
2010
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| 12 | NUP205, NUP35, NUP93
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| Early embryonic requirement for nucleoporin Nup35/NPP-19 in nuclear assembly.
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| Ródenas E, Klerkx EP, Ayuso C, Audhya A, Askjaer P.
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| Dev Biol 327(2):399-409. Epub 2008 Dec 30.
2009
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| 13 | NDC1, NUP205, NUP35, NUP93
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| The conserved transmembrane nucleoporin NDC1 is required for nuclear pore complex assembly in vertebrate cells.
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| Mansfeld J, Güttinger S, Hawryluk-Gara LA, Panté N, Mall M, Galy V, Haselmann U, Mühlhäusser P, Wozniak RW, Mattaj IW, Kutay U, Antonin W.
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| Mol Cell 22(1):93-103. 2006
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| 14 | NUP93, NUP98
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| Caspases target only two architectural components within the core structure of the nuclear pore complex.
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| Patre M, Tabbert A, Hermann D, Walczak H, Rackwitz HR, Cordes VC, Ferrando-May E.
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| J Biol Chem 281(2):1296-304. Epub 2005 Nov 14.
2006
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| 15 | NUP205, NUP93
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| Caenorhabditis elegans nucleoporins Nup93 and Nup205 determine the limit of nuclear pore complex size exclusion in vivo.
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| Galy V, Mattaj IW, Askjaer P.
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| Mol Biol Cell 14(12):5104-15. Epub 2003 Aug 22.
2003
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| 16 | NUP205, NUP93
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| Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly.
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| Grandi P, Dang T, Pané N, Shevchenko A, Mann M, Forbes D, Hurt E.
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| Mol Biol Cell 8(10):2017-38.
1997
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| 17 | ARID4B, BOP1, CACNA2D2, CCT5, CKAP5, CTR9, DCLRE1A, DELE1, DGKD, DHX34, EIF3A, EIF4A3, EMC1, EMC2, EXOSC7, FAM175B, FAM53B, GANAB, GGA3, GIT2, GPD1L, INPP5E, KEAP1, KIAA0082, KIAA0087, KIAA0114, KIAA0125, MAD2L1BP, MBTPS1, METAP1, MORC3, NCAPD2, NUP93, OEATC1, PASK, PMPCA, PRDX6, PSMD6, PUM1, RBM10, SAFB2, SART3, SCRIB, SERTAD2, SNRK, SPCS2, TAGLN2, THRAP4, TRIM14, TTLL12, UBAP2L, UBE4A, URB2, ZC3H3
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| Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.
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| Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S,Ishikawa K, Kawarabayasi Y, Kotani H, et al.
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| DNA Res 2(1):37-43. 1995
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