Next‐generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome-Reference-Cited by-同舟云学术

Next‐generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome

Published:2014-02-06 Issue:1 Volume:233 Page:18-26
ISSN:0022-3417
Container-title:The Journal of Pathology
language:en
Short-container-title:The Journal of Pathology

Author:

Bull Katherine R¹,Mason Thomas¹,Rimmer Andrew J¹,Crockford Tanya L¹²,Silver Karlee L¹,Bouriez‐Jones Tiphaine¹,Hough Tertius A³,Chaudhry Shirine⁴,Roberts Ian SD⁵,Goodnow Christopher C⁶,Cornall Richard J¹²

Affiliation:

1. Nuffield Department of Medicine and Wellcome Trust Centre for Human Genetics Oxford University UK

2. MRC Human Immunology Unit Weatherall Institute for Molecular Medicine, Oxford University UK

3. MRC Harwell Harwell Science and Innovation Campus Oxfordshire UK

4. Australian Phenomics Facility Australian National University Canberra Australia

5. Oxford University Hospitals NHS Trust John Radcliffe Hospital, Headington, Oxford UK

6. Department of Immunology, John Curtin School of Medical Research Australian National University Canberra Australia

Publisher

Wiley

Subject

Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/path.4308

Reference55 articles.

1. Idiopathic nephrotic syndrome in New Zealand children, demographic, clinical features, initial management and outcome after twelve-month follow-up: Results of a three-year national surveillance study

2. Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study

3. An Expanding Universe of FSGS Genes and Phenotypes: LMX1B Mutations Cause Familial Autosomal Dominant FSGS Lacking Extrarenal Manifestations

4. Positionally Cloned Gene for a Novel Glomerular Protein—Nephrin—Is Mutated in Congenital Nephrotic Syndrome

5. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

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1. Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases;Survey of Ophthalmology;2023-11

2. A deletion in the N-terminal polymerizing domain of laminin β2 is a new mouse model of chronic nephrotic syndrome;Kidney International;2020-07

3. Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane;Matrix Biology;2018-10

4. Laminin-521 Protein Therapy for Glomerular Basement Membrane and Podocyte Abnormalities in a Model of Pierson Syndrome;Journal of the American Society of Nephrology;2018-02-22

5. Congenital nephrotic syndrome;J PEDIATR NEONATAL I;2014