Citations for
1MCPH24, NPHS12, NPHS13, NUP107, NUP205, NUP37, NUP93, SRN6
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
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.
J Clin Invest 128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4. 2018
2NPHS12, NPHS13, NUP205, NUP93, XPO5
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
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.
Nat Genet 48(4):457-65. doi: 10.1038/ng.3512. Epub 2016 Feb 15. 2016
3NUP188, NUP205, NUP93
HOXA repression is mediated by nucleoporin Nup93 assisted by its interactors Nup188 and Nup205.
Labade AS, Karmodiya K, Sengupta K.
Epigenetics Chromatin 9:54. eCollection 2016. 2016
4NUP188, NUP93
Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.
Del Viso F, Huang F, Myers J, Chalfant M, Zhang Y, Reza N, Bewersdorf J, Lusk CP, Khokha MK.
Dev Cell 38(5):478-92. doi: 10.1016/j.devcel.2016.08.002. Epub 2016 Sep 1. 2016
5NUP155, NUP62, NUP93
A negative loop within the nuclear pore complex controls global chromatin organization.
Breuer M, Ohkura H.
Genes Dev 29(17):1789-94. doi: 10.1101/gad.264341.115. 2015
6NUP93
The diverse roles of the Nup93/Nic96 complex proteins - structural scaffolds of the nuclear pore complex with additional cellular functions.
Vollmer B, Antonin W.
Biol Chem 395(5):515-28. doi: 10.1515/hsz-2013-0285. Review. 2014
7NUP93
The C-terminal domain of Nup93 is essential for assembly of the structural backbone of nuclear pore complexes.
Sachdev R, Sieverding C, Flötenmeyer M, Antonin W.
Mol Biol Cell 23(4):740-9. doi: 10.1091/mbc.E11-09-0761. Epub 2011 Dec 14. 2012
8NDC1, NUP153, NUP160, NUP93
Heart failure induces significant changes in nuclear pore complex of human cardiomyocytes.
Tarazón E, Rivera M, Roselló-Lletí E, Molina-Navarro MM, Sánchez-Lázaro IJ, Espańa F, Montero JA, Lago F, González-Juanatey JR, Portolés M.
PLoS One 7(11):e48957. doi: 10.1371/journal.pone.0048957. Epub 2012 Nov 12. 2012
9NUP188, NUP93
The nucleoporin Nup188 controls passage of membrane proteins across the nuclear pore complex.
Theerthagiri G, Eisenhardt N, Schwarz H, Antonin W.
J Cell Biol 189(7):1129-42. Epub 2010 Jun 21. 2010
10NUP205, NUP93
Specific nucleoporin requirement for Smad nuclear translocation.
Chen X, Xu L.
Mol Cell Biol 30(16):4022-34. Epub 2010 Jun 14. 2010
11NUP205, NUP35, NUP93
Early embryonic requirement for nucleoporin Nup35/NPP-19 in nuclear assembly.
Ródenas E, Klerkx EP, Ayuso C, Audhya A, Askjaer P.
Dev Biol 327(2):399-409. Epub 2008 Dec 30. 2009
12NDC1, NUP205, NUP35, NUP93
The conserved transmembrane nucleoporin NDC1 is required for nuclear pore complex assembly in vertebrate cells.
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.
Mol Cell 22(1):93-103. 2006
13NUP93, NUP98
Caspases target only two architectural components within the core structure of the nuclear pore complex.
Patre M, Tabbert A, Hermann D, Walczak H, Rackwitz HR, Cordes VC, Ferrando-May E.
J Biol Chem 281(2):1296-304. Epub 2005 Nov 14. 2006
14NUP205, NUP93
Caenorhabditis elegans nucleoporins Nup93 and Nup205 determine the limit of nuclear pore complex size exclusion in vivo.
Galy V, Mattaj IW, Askjaer P.
Mol Biol Cell 14(12):5104-15. Epub 2003 Aug 22. 2003
15NUP205, NUP93
Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly.
Grandi P, Dang T, Pané N, Shevchenko A, Mann M, Forbes D, Hurt E.
Mol Biol Cell 8(10):2017-38. 1997
16ARID4B, BOP1, CACNA2D2, CCT5, CKAP5, CTR9, DCLRE1A, DGKD, DHX34, EIF3A, EIF4A3, EMC1, EMC2, EXOSC7, FAM175B, FAM53B, GANAB, GGA3, GIT2, GPD1L, INPP5E, KEAP1, KIAA0082, KIAA0087, KIAA0114, KIAA0125, KIAA0141, 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
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.
Nagase T, Miyajima N, Tanaka A, Sazuka T, Seki N, Sato S, Tabata S,Ishikawa K, Kawarabayasi Y, Kotani H, et al.
DNA Res 2(1):37-43. 1995