Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

The nuclear pore complex (NPC) is a huge protein complex embedded in the nuclear envelope. It has central functions in nucleocytoplasmic transport, nuclear framework, and gene regulation. Nucleoporin 107 kDa (NUP107) is a component of the NPC central scaffold and is an essential protein in all eukar...

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Udgivet i:Am J Hum Genet
Main Authors: Miyake, Noriko, Tsukaguchi, Hiroyasu, Koshimizu, Eriko, Shono, Akemi, Matsunaga, Satoko, Shiina, Masaaki, Mimura, Yasuhiro, Imamura, Shintaro, Hirose, Tomonori, Okudela, Koji, Nozu, Kandai, Akioka, Yuko, Hattori, Motoshi, Yoshikawa, Norishige, Kitamura, Akiko, Cheong, Hae Il, Kagami, Shoji, Yamashita, Michiaki, Fujita, Atsushi, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Ohashi, Kenichi, Imamoto, Naoko, Ryo, Akihide, Ogata, Kazuhiro, Iijima, Kazumoto, Matsumoto, Naomichi
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4596915/
https://ncbi.nlm.nih.gov/pubmed/26411495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.08.013
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