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Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

Kidney Int Rep. 2020-12; 
Verena Klämbt, Youying Mao, Ronen Schneider, Florian Buerger, Hanan Shamseldin, Ana C Onuchic-Whitford, Konstantin Deutsch, Thomas M Kitzler, Makiko Nakayama, Amar J Majmundar, Nina Mann, Hannah Hugo, Eugen Widmeier, Weizhen Tan, Heidi L Rehm, Shrikant Mane, Richard P Lifton, Fowzan S Alkuraya, Shirlee Shril, Friedhelm Hildebrandt
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Mammalian Expression Human SYNPO cDNA clones were purchased (Genscript, Piscataway, NJ; OHu26207) Get A Quote

摘要

unassigned: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of chronic kidney disease during childhood. Identification of 63 monogenic human genes has delineated 12 distinct pathogenic pathways. unassigned: Here, we generated 2 independent sets of nephrotic syndrome (NS) candidate genes to augment the discovery of additional monogenic causes based on whole-exome sequencing (WES) data from 1382 families with NS. unassigned: We first identified 63 known monogenic causes of NS in mice from public databases and scientific publications, and 12 of these genes overlapped with the 63 known human monogenic SRNS genes. Second, we used a set of 64 genes that are regulated by the transcription f... More

关键词

pediatric nephrology, proteinuria, recessive disease, whole-exome sequencing