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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Bibliografski detalji
Izdano u:J Am Soc Nephrol
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: American Society of Nephrology 2018
Teme:
Basic Research
Online pristup: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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