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Article

A novel in situ method for the detection of deficient transglutaminase activity in the skin.

Archives of dermatological research - 1 Nov 1998

Raghunath M, Hennies H C, Velten F, Wiebe V, Steinert P M, Reis A, Traupe H

Abstract excerpt

Autosomal recessive congenital ichthyoses are disorders of epidermal cornification, but are clinically and etiologically heterogeneous. Some cases, known as lamellar ichthyosis, are caused by mutations in the TGM1 gene encoding transglutaminase 1, which result in markedly diminished or lost enzyme activity and/or protein. In some cases, this enzyme is present but there is little detectable activity, and in other...

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Source

Identifiers

PMID: 9860283
DOI: 10.1007/s004030050362

Genes

TGM1

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel in situ method for the detection of deficient transglutaminase activity in the skin.PMID 9860283Read ↗

New mutations in the transglutaminase 1 gene in three families with lamellar ichthyosis.Semantic proximity Read ↗

Diagnosis of autosomal recessive lamellar ichthyosis with mutations in the TGM1 gene.Semantic proximity Read ↗

Long-Term Faithful Recapitulation of Transglutaminase 1–Deficient Lamellar Ichthyosis in a Skin-Humanized Mouse Model, and Insights from Proteomic StudiesSemantic proximity Read ↗

Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis.Semantic proximity Read ↗

Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis.Semantic proximity Read ↗

Structural, enzymatic and molecular studies in a series of nonbullous congenital ichthyosiform erythroderma patients.Semantic proximity Read ↗

Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.Semantic proximity Read ↗

Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1.Semantic proximity Read ↗

A novel homozygous mutation 371delA in TGM1 leads to a classic lamellar ichthyosis phenotype.Semantic proximity Read ↗

Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosisSemantic proximity Read ↗

A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.Semantic proximity Read ↗

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