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

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

10.1038/s41467-018-04193-w

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Bibliographic Details
Main Authors:	Ashraf, S, Kudo, H, Rao, J
Other Authors:	BIOLOGY (NU)
Format:	Article
Published:	Nature Publishing Group 2020
Subjects:	caveolin 1 dexamethasone genomic DNA guanine nucleotide exchange factor guanosine triphosphatase protein Cdc42 Rho like small guanosine triphosphatase RhoA guanine nucleotide binding protein unclassified drug glucocorticoid small interfering RNA disease treatment enzyme activity gene expression genetic engineering mutation pathogen animal cell animal experiment animal model animal tissue Article CDK20 gene cell culture cell migration circular dichroism controlled study DLC1 gene enzyme activation female gene gene knockdown gene overexpression homozygote human human cell ITSN1 gene ITSN2 gene MAGI2 gene missense mutation mouse nephrotic syndrome nonhuman pathogenesis podocyte protein protein interaction sterile alpha motif TNS2 gene whole exome sequencing adult animal C57BL mouse child disease model dna mutational analysis drug resistance genetics HEK293 cell line high throughput sequencing infant knockout mouse male metabolism middle aged pedigree preschool child protein analysis treatment outcome Mus Adult Animals Child Child, Preschool Disease Models, Animal DNA Mutational Analysis Drug Resistance Female Gene Knockdown Techniques Glucocorticoids HEK293 Cells High-Throughput Nucleotide Sequencing Humans Infant Male Mice Mice, Inbred C57BL Mice, Knockout Middle Aged Mutation Nephrotic Syndrome Pedigree Podocytes Protein Interaction Maps rhoA GTP-Binding Protein RNA, Small Interfering Treatment Outcome Whole Exome Sequencing
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/178411
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Institution:	National University of Singapore

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Summary:	10.1038/s41467-018-04193-w