Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of dermatological science - 1 Nov 2000

Yotsumoto S, Akiyama M, Yoneda K, Fukushige T, Kobayashi K, Saheki T, Kanzaki T

Abstract excerpt

We described a Japanese female with lamellar ichthyosis whose transglutaminase 1 gene (TGM1 gene) was mutated. DNA sequence analysis revealed that the patient had a homozygous mutation, i.e. a point mutation from G to A at nucleotide 1494 resulting in the substitution of glycine for arginine at c...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to Epidermis
Share to Ichthyosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microscopy, Electron

Share to Microscopy, Fluorescence

Share to Transglutaminases

Source

Identifiers

PMID: 11064247
DOI: 10.1016/s0923-1811(00)00087-6

Genes

TGM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11064247-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis.PMID 11064247Read ↗

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

Novel transglutaminase 1 mutations in a Chinese patient with severe lamellar ichthyosis phenotype.Semantic proximity Read ↗

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

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.Semantic proximity Read ↗

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

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis.Semantic proximity Read ↗

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Semantic proximity Read ↗

Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.Semantic proximity Read ↗

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

Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.Semantic proximity Read ↗

Lamellar ichthyosis is genetically heterogeneous--cases with normal keratinocyte transglutaminase.Semantic proximity Read ↗

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.