Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome - PubMed (original) (raw)

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. Braun DA, et al. J Clin Invest. 2018 Oct 1;128(10):4313-4328. doi: 10.1172/JCI98688. Epub 2018 Sep 4. J Clin Invest. 2018. PMID: 30179222 Free PMC article.

Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.

Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N. Fujita A, et al. Ann Neurol. 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370. Ann Neurol. 2018. PMID: 30427554

NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

Gambadauro A, Mangano GD, Galletta K, Granata F, Riva A, Massella L, Guzzo I, Farello G, Scorrano G, Di Francesco L, Di Donato G, Ianni C, Di Ludovico A, La Bella S, Striano P, Efthymiou S, Houlden H, Nardello R, Chimenz R. Gambadauro A, et al. Genes (Basel). 2023 Nov 27;14(12):2143. doi: 10.3390/genes14122143. Genes (Basel). 2023. PMID: 38136965 Free PMC article. Review.