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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Vydáno v:J Am Soc Nephrol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2018
Témata:
Basic Research
On-line přístup: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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