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Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
Journal article   Open access  Peer reviewed

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A Lawson, Weizhen Tan, Tobias Hermle, Jillian K Warejko, Shirlee Shril, …
Nature communications, Vol.9(1), pp.1960-14
17/05/2018
DOI: https://doi.org/10.1038/s41467-018-04193-w
PMCID: PMC5958119
PMID: 29773874

Abstract

Adult Animals Child Child, Preschool Disease Models, Animal DNA Mutational Analysis Drug Resistance - genetics Exome Sequencing Female Gene Knockdown Techniques Glucocorticoids - pharmacology Glucocorticoids - therapeutic use HEK293 Cells High-Throughput Nucleotide Sequencing Humans Infant Male Mice Mice, Inbred C57BL Mice, Knockout Middle Aged Mutation Nephrotic Syndrome - drug therapy Nephrotic Syndrome - genetics Pedigree Podocytes Protein Interaction Maps - genetics rhoA GTP-Binding Protein - genetics rhoA GTP-Binding Protein - metabolism RNA, Small Interfering - metabolism Treatment Outcome
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https://doi.org/10.1038/s41467-018-04193-wView
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