Recessive Mutations in
SYNPO2
monogenic kidney disease
nephrotic syndrome
Journal
Kidney international reports
ISSN: 2468-0249
Titre abrégé: Kidney Int Rep
Pays: United States
ID NLM: 101684752
Informations de publication
Date de publication:
Feb 2021
Feb 2021
Historique:
received:
05
09
2020
revised:
10
10
2020
accepted:
27
10
2020
entrez:
22
2
2021
pubmed:
23
2
2021
medline:
23
2
2021
Statut:
epublish
Résumé
Most of the approximately 60 genes that if mutated cause steroid-resistant nephrotic syndrome (SRNS) are highly expressed in the glomerular podocyte, rendering SRNS a "podocytopathy." We performed whole-exome sequencing (WES) in 1200 nephrotic syndrome (NS) patients. We discovered homozygous truncating and homozygous missense mutation in We show that SYNPO2 variants may lead to Rac1-ARP3 dysregulation, and may play a role in the pathogenesis of nephrotic syndrome.
Identifiants
pubmed: 33615072
doi: 10.1016/j.ekir.2020.10.040
pii: S2468-0249(20)31711-3
pmc: PMC7879128
doi:
Types de publication
Journal Article
Langues
eng
Pagination
472-483Subventions
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NIDDK NIH HHS
ID : P30 DK079310
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK076683
Pays : United States
Organisme : NIDDK NIH HHS
ID : T32 DK007726
Pays : United States
Organisme : NIDDK NIH HHS
ID : F32 DK122766
Pays : United States
Informations de copyright
© 2020 International Society of Nephrology. Published by Elsevier Inc.
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