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Article

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.

Nature genetics - 1 May 1996

Maestrini E, Monaco A P, McGrath J A, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks D E, Lathrop M, Uitto J, Christiano A M

Abstract excerpt

Terminal keratinocyte differentiation involves coordinated expression of several functionally interdependent genes, many of which have been mapped to the epidermal differentiation complex (EDC) on chromosome 1q21. We have identified linkage of Vohwinkel's syndrome in an extended pedigree to marke...

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PMID: 8673107
DOI: 10.1038/ng0596-70

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-8673107-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.PMID 8673107Read ↗

Loricrin and human skin diseases: molecular basis of loricrin keratodermas.Semantic proximity Read ↗

Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.Semantic proximity Read ↗

A novel insertional mutation in loricrin in Vohwinkel's Keratoderma.Semantic proximity Read ↗

Update on the epidermal differentiation complexSemantic proximity Read ↗

Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex.Semantic proximity Read ↗

Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis.Semantic proximity Read ↗

The human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the ‘fused genes’ familySemantic proximity Read ↗

Characterization of the mouse loricrin gene: linkage with profilaggrin and the flaky tail and soft coat mutant loci on chromosome 3.Semantic proximity Read ↗

A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.Semantic proximity Read ↗

Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis).Semantic proximity Read ↗

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.Semantic proximity Read ↗

Molecular analysis of inherited disorders of cornification in Polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.Semantic proximity Read ↗

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