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Article

Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.

Journal of the American Society of Nephrology : JASN - 1 Mar 2018

Funk Steven D, Bayer Raymond H, Malone Andrew F, McKee Karen K, Yurchenco Peter D, Miner Jeffrey H

Abstract excerpt

Pierson syndrome is a congenital nephrotic syndrome with eye and neurologic defects caused by mutations in laminin β2 (LAMB2), a major component of the glomerular basement membrane (GBM). Pathogenic missense mutations in human LAMB2 cluster in or near the laminin amino-terminal (LN) domain, a domain required for extracellular polymerization of laminin trimers and basement membrane scaffolding. Here, we...

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Topics

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Share to Collagen Type IV
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Myasthenic Syndromes, Congenital

Share to Nephritis, Hereditary

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Source

Open in PubMed Open full text

Identifiers

PMID: 29263159
DOI: 10.1681/ASN.2017090997
PMCID: PMC5827610

Genes

LAMB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenicity of a Human Laminin β2 Mutation Revealed in Models of Alport Syndrome.PMID 29263159Read ↗

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.Semantic proximity Read ↗

A Missense LAMB2 Mutation Causes Congenital Nephrotic Syndrome by Impairing Laminin SecretionSemantic proximity Read ↗

Forced expression of laminin β1 in podocytes prevents nephrotic syndrome in mice lacking laminin β2, a model for Pierson syndromeSemantic proximity Read ↗

Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome.Semantic proximity Read ↗

Alport syndrome and Pierson syndrome: Diseases of the glomerular basement membrane.Semantic proximity Read ↗

Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalitiesSemantic proximity Read ↗

A novel mutation of laminin β2 (LAMB2) in two siblings with renal failure.Semantic proximity Read ↗

Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes.Semantic proximity Read ↗

A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.Semantic proximity Read ↗

Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome.Semantic proximity Read ↗

Inherited diseases of the glomerular basement membrane.Semantic proximity Read ↗

Laminin Polymerization and Inherited Disease: Lessons From GeneticsSemantic proximity Read ↗

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