Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation

Clin Genet. 2023 Aug;104(2):272-274. doi: 10.1111/cge.14339. Epub 2023 Apr 11.

Authors

Qin Wang¹, Rui Gu¹, Fu-Wei Li², Wei-Yue Gu², Jian-Jiang Zhang¹

Affiliations

¹ Department of Pediatrics, First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
² Beijing Chigene Translational Medicine Research Center Co. Ltd., Beijing, China.

PMID: 37041680
DOI: 10.1111/cge.14339

Abstract

Partially enlarged structure of NUP133: wild-type (upper) and mutant p.Lys966Asn (lower).

Keywords: NUP133; children; gene mutation; steroid-resistant nephrotic syndrome.

© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Humans
Mutation
Nephrotic Syndrome* / drug therapy
Nephrotic Syndrome* / genetics
Nuclear Pore
Nuclear Pore Complex Proteins / genetics

Substances

Nuclear Pore Complex Proteins