A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects

A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects

The LAMA5 gene encodes laminin α5, an indispensable component of glomerular basement membrane and other types of basement membrane. A homozygous pathological variant in LAMA5 is known to cause a systemic developmental syndrome including glomerulopathy. However, the roles of heterozygous LAMA5 gene v...

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Bibliographic Details
Main Authors: Jun-Ya Kaimori, Yamato Kikkawa, Daisuke Motooka, Tomoko Namba-Hamano, Ayako Takuwa, Atsuko Okazaki, Kaori Kobayashi, Arisa Tanigawa, Yuko Kotani, Yoshihiro Uno, Kazuto Yoshimi, Koki Hattori, Yuta Asahina, Sachio Kajimoto, Yohei Doi, Tatsufumi Oka, Yusuke Sakaguchi, Tomoji Mashimo, Kiyotoshi Sekiguchi, Akihiro Nakaya, Motoyoshi Nomizu, Yoshitaka Isaka
Format: Article
Language:English
Published: American Society for Clinical investigation 2022-12-01
Series:JCI Insight
Subjects:
Genetics
Nephrology
Online Access:https://doi.org/10.1172/jci.insight.158378

Internet

https://doi.org/10.1172/jci.insight.158378

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