A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background-Reference-Cited by-同舟云学术

A novel model of nephrotic syndrome results from a point mutation in Lama5 and is modified by genetic background

Published:2021-11 Issue: Volume: Page:
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Falcone Sara^ORCID,Nicol Thomas,Blease Andrew,Randles Michael J.,Angus Elizabeth,Page Anton,Tam Frederick W.K.,Pusey Charles D.,Lennon Rachel,Potter Paul K.

Funder

Medical Research Council

Wellcome Trust

Imperial College Healthcare Charity

Publisher

Elsevier BV

Subject

Nephrology

Reference59 articles.

1. Management of patients with nephrotic syndrome;de Seigneux;Swiss Med Wkly,2009

2. An expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations;Kopp;J Am Soc Nephrol,2013

3. Exploring the genetic basis of early-onset chronic kidney disease;Vivante;Nat Rev Nephrol,2016

4. Genetic testing in steroid-resistant nephrotic syndrome: when and how?;Lovric;Nephrol Dial Transplant,2016

5. Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center;Tan;Pediatr Nephrol,2018

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1. Podocyte-specific Nup160 knockout mice develop nephrotic syndrome and glomerulosclerosis;Human Molecular Genetics;2024-01-15

2. Autoantibodies against laminin-521 are pathogenic in anti-glomerular basement membrane disease;Kidney International;2023-12

3. A high-impact FN1 variant correlates with fibronectin-mediated glomerulopathy via decreased binding to collagen type IV;Pathology;2023-06

4. Case report: Genetic defects in laminin α5 cause infantile steroid-resistant nephrotic syndrome;Frontiers in Pediatrics;2023-01-11

5. A heterozygous LAMA5 variant may contribute to slowly progressive, vinculin-enhanced familial FSGS and pulmonary defects;JCI Insight;2022-12-08