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Article

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.

Proceedings of the National Academy of Sciences of the United States of America - 8 Aug 2006

Kiyozumi Daiji, Sugimoto Nagisa, Sekiguchi Kiyotoshi

Abstract excerpt

An emerging family of extracellular matrix proteins characterized by 12 consecutive CSPG repeats and the presence of Calx-beta motif(s) includes Fras1, QBRICK/Frem1, and Frem2. Mutations in the genes encoding these proteins have been associated with mouse models of Fraser syndrome, which is characterized by subepidermal blistering, cryptophthalmos, syndactyly, and renal dysmorphogenesis. Here, we report that all...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16880404
DOI: 10.1073/pnas.0601011103
PMCID: PMC1567684

Genes

GRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects.PMID 16880404Read ↗

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Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development.Semantic proximity Read ↗

<i>Frem2</i> Knockout Mice Exhibit Fraser Syndrome Phenotypes and Neonatal Lethality Due to Bilateral Renal AgenesisSemantic proximity Read ↗

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis.Semantic proximity Read ↗

AMACO is a component of the basement membrane-associated Fraser complex.Semantic proximity Read ↗

Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa.Semantic proximity Read ↗

Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.Semantic proximity Read ↗

The genetics of Fraser syndrome and the blebs mouse mutantsSemantic proximity Read ↗

Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes.Semantic proximity Read ↗

Mutations in GRIP1 cause Fraser syndrome.Semantic proximity Read ↗

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