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Article

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

Development (Cambridge, England) - 1 Mar 2006

Miner Jeffrey H, Go Gloriosa, Cunningham Jeanette, Patton Bruce L, Jarad George

Abstract excerpt

Pierson syndrome is a recently defined disease usually lethal within the first postnatal months and caused by mutations in the gene encoding laminin beta2 (LAMB2). The hallmarks of Pierson syndrome are congenital nephrotic syndrome accompanied by ocular abnormalities, including microcoria (small pupils), with muscular and neurological developmental defects also present. Lamb2(-/-) mice are a model for Pierson...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 16452099
DOI: 10.1242/dev.02270
PMCID: PMC1363729

Genes

LAMB2

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

Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome.PMID 16452099Read ↗

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

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Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome.Semantic proximity Read ↗

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

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