GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome

BACKGROUND: Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of CKD. The discovery of monogenic causes of SRNS has revealed specific pathogenetic pathways, but these monogenic causes do not explain all cases of SRNS. METHODS: To identify novel monogenic causes of SRNS, we screened 665...

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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: Hermle, Tobias, Schneider, Ronen, Schapiro, David, Braun, Daniela A., van der Ven, Amelie T., Warejko, Jillian K., Daga, Ankana, Widmeier, Eugen, Nakayama, Makiko, Jobst-Schwan, Tilman, Majmundar, Amar J., Ashraf, Shazia, Rao, Jia, Finn, Laura S., Tasic, Velibor, Hernandez, Joel D., Bagga, Arvind, Jalalah, Sawsan M., El Desoky, Sherif, Kari, Jameela A., Laricchia, Kristen M., Lek, Monkol, Rehm, Heidi L., MacArthur, Daniel G., Mane, Shrikant, Lifton, Richard P., Shril, Shirlee, Hildebrandt, Friedhelm
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2018
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6065084/
https://ncbi.nlm.nih.gov/pubmed/29959197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2017121312
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