Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis

We performed next-generation sequencing in patients with familial steroid-sensitive nephrotic syndrome (SSNS) and identified a homozygous segregating variant (p.H310Y) in the gene encoding clavesin-1 (CLVS1) in a consanguineous family with 3 affected individuals. Knockdown of the clavesin gene in ze...

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Detalles Bibliográficos
Autores principales: Lane, Brandon M., Chryst-Stangl, Megan, Wu, Guanghong, Shalaby, Mohamed, El Desoky, Sherif, Middleton, Claire C., Huggins, Kinsie, Sood, Amika, Ochoa, Alejandro, Malone, Andrew F., Vancini, Ricardo, Miller, Sara E., Hall, Gentzon, Kim, So Young, Howell, David N., Kari, Jameela A., Gbadegesin, Rasheed
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/PMC9018043/
https://www.ncbi.nlm.nih.gov/pubmed/34874915
http://dx.doi.org/10.1172/jci.insight.152102

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9018043/
https://www.ncbi.nlm.nih.gov/pubmed/34874915
http://dx.doi.org/10.1172/jci.insight.152102

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