Laminin β2 variants associated with isolated nephropathy that impact matrix regulation

Laminin β2 variants associated with isolated nephropathy that impact matrix regulation

Mutations in LAMB2, encoding laminin β2, cause Pierson syndrome and occasionally milder nephropathy without extrarenal abnormalities. The most deleterious missense mutations that have been identified affect primarily the N-terminus of laminin β2. On the other hand, those associated with isolated nep...

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Bibliographic Details
Main Authors: Yamato Kikkawa, Taeko Hashimoto, Keiichi Takizawa, Seiya Urae, Haruka Masuda, Masumi Matsunuma, Yuji Yamada, Keisuke Hamada, Motoyoshi Nomizu, Helen Liapis, Masataka Hisano, Yuko Akioka, Kenichiro Miura, Motoshi Hattori, Jeffrey H. Miner, Yutaka Harita
Format: Article
Language:English
Published: American Society for Clinical investigation 2021-03-01
Series:JCI Insight
Subjects:
Cell biology
Nephrology
Online Access:https://doi.org/10.1172/jci.insight.145908

Internet

https://doi.org/10.1172/jci.insight.145908

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