Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome.
Zhao F, Zhu JY, Richman A, Fu Y, Huang W, Chen N, Pan X, Yi C, Ding X, Wang S, Wang P, Nie X, Huang J, Yang Y, Yu Z, Han Z.
Zhao F, et al.
J Am Soc Nephrol. 2019 May;30(5):840-853. doi: 10.1681/ASN.2018080786. Epub 2019 Mar 25.
J Am Soc Nephrol. 2019.
PMID: 30910934
Free PMC article.
We performed in vivo functional validation studies on the NUP160 mutations using a Drosophila model. RESULTS: We identified two compound-heterozygous NUP160 mutations, NUP160(R1173) and NUP160(E803K) . ...CONCLUSIONS: Mutations in NUP160 are imp …
We performed in vivo functional validation studies on the NUP160 mutations using a Drosophila model. RESULTS: We identified two compo …