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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Detalles Bibliográficos
Autores principales: Kaimori, Jun-Ya, Kikkawa, Yamato, Motooka, Daisuke, Namba-Hamano, Tomoko, Takuwa, Ayako, Okazaki, Atsuko, Kobayashi, Kaori, Tanigawa, Arisa, Kotani, Yuko, Uno, Yoshihiro, Yoshimi, Kazuto, Hattori, Koki, Asahina, Yuta, Kajimoto, Sachio, Doi, Yohei, Oka, Tatsufumi, Sakaguchi, Yusuke, Mashimo, Tomoji, Sekiguchi, Kiyotoshi, Nakaya, Akihiro, Nomizu, Motoyoshi, Isaka, Yoshitaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9746903/
https://www.ncbi.nlm.nih.gov/pubmed/36173685
http://dx.doi.org/10.1172/jci.insight.158378

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