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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Am Soc Nephrol
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society of Nephrology 2018
Pynciau:
Basic Research
Mynediad Ar-lein: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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