| 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 | NUP188, NUP37, NUP43
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| Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.
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| Haskell GT, Jensen BC, Samsa LA, Marchuk D, Huang W, Skrzynia C, Tilley C, Seifert BA, Rivera-Muñoz EA, Koller B, Wilhelmsen KC, Liu J, Alhosaini H, Weck KE, Evans JP, Berg JS.
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| Circ Cardiovasc Genet 10(3). pii: e001443. doi: 10.1161/CIRCGENETICS.116.001443.
2017
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| 3 | NUP37, TEAD1, YAP1
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| NUP37, a positive regulator of YAP/TEAD signaling, promotes the progression of hepatocellular carcinoma.
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| Luo X, Liu Y, Feng W, Lei L, Du Y, Wu J, Wang S.
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| Oncotarget 8(58):98004-98013. doi: 10.18632/oncotarget.20336. eCollection 2017 Nov 17.
2017
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| 4 | AHCTF1, NUP37
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| Molecular basis for Nup37 and ELY5/ELYS recruitment to the nuclear pore complex.
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| Bilokapic S, Schwartz TU.
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| Proc Natl Acad Sci U S A 109(38):15241-6.
2012
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| 5 | NUP37
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| Structural evolution of the membrane-coating module of the nuclear pore complex.
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| Liu X, Mitchell JM, Wozniak RW, Blobel G, Fan J.
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| Proc Natl Acad Sci U S A 109(41):16498-503. doi: 10.1073/pnas.1214557109.
2012
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| 6 | NUP37
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| Cell-cycle-dependent phosphorylation of the nuclear pore Nup107-160 subcomplex.
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| Glavy JS, Krutchinsky AN, Cristea IM, Berke IC, Boehmer T, Blobel G, Chait BT.
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| Proc Natl Acad Sci U S A 104(10):3811-6.
2007
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| 7 | NUP37, NUP43, SEH1L
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| The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis.
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| Loiodice I, Alves A, Rabut G, Van Overbeek M, Ellenberg J, Sibarita JB, Doye V.
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| Mol Biol Cell 15(7):3333-44. Epub 2004 May 14. 2004
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| 8 | NUP35, NUP37, NUP43
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| Proteomic analysis of the mammalian nuclear pore complex.
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| Cronshaw JM, Krutchinsky AN, Zhang W, Chait BT, Matunis MJ.
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| J Cell Biol 158(5):915-27. Epub 2002 Aug 26. 2002
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