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

Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.

The Journal of investigative dermatology - 1 May 2001

Esposito G, Auricchio L, Rescigno G, Paparo F, Rinaldi M, Salvatore F

Abstract excerpt

We analyzed the transglutaminase 1 gene locus in patients from six unrelated Italian families affected by autosomal recessive lamellar ichthyosis. In two families we identified a novel mutation (E520G) in the gene coding region, a previously reported splicing mutation (A3447G), and the mis-sense mutations S272P and V518M. The latter mutation, hitherto considered disease causing, was found to be a simple...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Recombinant
Share to Genes, Recessive
Share to Homozygote

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

Share to Ichthyosis

Share to Mutation, Missense

Share to Transglutaminases

Source

Identifiers

PMID: 11348475
DOI: 10.1046/j.1523-1747.2001.01314.x

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

Transglutaminase 1 gene mutations in Italian patients with autosomal recessive lamellar ichthyosis.PMID 11348475Read ↗

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity.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 ↗

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

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

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

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.Semantic proximity Read ↗

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

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

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

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.Semantic proximity Read ↗

Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene.Semantic proximity Read ↗

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