ArticleAmerican journal of human genetics1997
Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 116 citations in OpenAlex.
- A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.The Journal of international medical research · 2025Article
- Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population.International ophthalmology · 2023Article
- CDK12 Is Necessary to Promote Epidermal Differentiation Through Transcription Elongation.Stem cells (Dayton, Ohio) · 2022Article
- Compound Heterozygous Mutations inPharmacogenomics and personalized medicine · 2022Article
- Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.Life (Basel, Switzerland) · 2021Article
- Review
- Characterization of Epidermal Lipoxygenase Expression in Normal Human Skin and Tissue-Engineered Skin Substitutes.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2018Article
- Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.JAMA dermatology · 2017Article
- Article
- Epidermal barriers.Cold Spring Harbor perspectives in medicine · 2014Review
- A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.BioMed research international · 2014Article
- Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2013Article
- Visual detection of single-base mismatches in DNA using hairpin oligonucleotide with double-target DNA binding sequences and gold nanoparticles.Biosensors & bioelectronics · 2012Article
- Updated molecular genetics and pathogenesis of ichthiyoses.Nagoya journal of medical science · 2011Review
- Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.The American journal of pathology · 2010Article
- Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Human mutation · 2009Review
- Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.Journal of medical genetics · 2009Article
- A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.Journal of molecular modeling · 2007Article
- A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.American journal of human genetics · 2005Article
- End-stage renal failure in a child with X-linked ichthyosis.Pediatric nephrology (Berlin, Germany) · 2003Article
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
Autosomal recessive congenital ichthyosis (ARCI) is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, lamellar ichthyosis (LI) and nonbullous congenital ichthyosiformis erythroderma (CIE). Recently, strong evidence for the involvement of the transglutaminase 1 gene (TGM1) in LI has evolved. We have studied ARCI in the isolated Finnish population, in which recessive disorders are often caused by single mutations enriched by a founder effect. Surprisingly, five different mutations of TGM1 (Arg141His, Arg142Cys, Gly217Ser, Val378Leu, and Arg395Leu) were found in Finnish ARCI patients. In addition to affected LI patients, we also identified TGM1 mutations in CIE patients. Moreover, haplotype analysis of the chromosomes carrying the most common mutation, a C-->T transition changing Arg142 to Cys, revealed that the same mutation has been introduced twice in the Finnish population. In addition to this Arg142Cys mutation, three other mutations, in Arg141 and Arg142, have been described elsewhere, in other populations. These findings suggest that this region of TGM1 is more susceptible to mutation. The corresponding amino acid sequence is conserved in other transglutaminases, but, for example, coagulation factor XIII (FXIII) mutations do not cluster in this region. Protein modeling of the Arg142Cys mutation suggested disruption or destabilization of the protein. In transfection studies, the closely related transglutaminase FXIII protein with the corresponding mutation was shown to be susceptible to degradation in COS cells, further supporting evidence of the destabilizing effect of the Arg142Cys mutation in TGM1.
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