Ontology highlight
ABSTRACT:
SUBMITTER: Braun DA
PROVIDER: S-EPMC6159964 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Braun Daniela A DA Lovric Svjetlana S Schapiro David D Schneider Ronen R Marquez Jonathan J Asif Maria M Hussain Muhammad Sajid MS Daga Ankana A Widmeier Eugen E Rao Jia J Ashraf Shazia S Tan Weizhen W Lusk C Patrick CP Kolb Amy A Jobst-Schwan Tilman T Schmidt Johanna Magdalena JM Hoogstraten Charlotte A CA Eddy Kaitlyn K Kitzler Thomas M TM Shril Shirlee S Moawia Abubakar A Schrage Kathrin K Khayyat Arwa Ishaq A AIA Lawson Jennifer A JA Gee Heon Yung HY Warejko Jillian K JK Hermle Tobias T Majmundar Amar J AJ Hugo Hannah H Budde Birgit B Motameny Susanne S Altmüller Janine J Noegel Angelika Anna AA Fathy Hanan M HM Gale Daniel P DP Waseem Syeda Seema SS Khan Ayaz A Kerecuk Larissa L Hashmi Seema S Mohebbi Nilufar N Ettenger Robert R Serdaroğlu Erkin E Alhasan Khalid A KA Hashem Mais M Goncalves Sara S Ariceta Gema G Ubetagoyena Mercedes M Antonin Wolfram W Baig Shahid Mahmood SM Alkuraya Fowzan S FS Shen Qian Q Xu Hong H Antignac Corinne C Lifton Richard P RP Mane Shrikant S Nürnberg Peter P Khokha Mustafa K MK Hildebrandt Friedhelm F
The Journal of clinical investigation 20180904 10
Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion of SRNS remains unexplained. Recently, it was discovered that mutations of NUP93 and NUP205, encoding 2 proteins of the inner ring subunit of the nuclear pore complex (NPC), cause SRNS. Here, we describe mutations in genes encoding 4 components of the outer rings of the NPC, namely NUP107, NUP85, NUP133, and NU ...[more]