Associated Papers
A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.
Lixiang W et al.
The Journal of International Medical Research, 2025
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.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
A cellular disease model toward gene therapy of TGM1-dependent lamellar ichthyosis.
Sercia L et al.
Molecular Therapy. Methods & Clinical Development, 2024
39234443 (PubMed )
Supplement: mmc2.pdf
Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.
Almazroea A et al.
Medicina (kaunas, Lithuania), 2023
36676727 (PubMed )
Supplement: medicina-59-00103-s001.zip › medicina-2007344-supplementary.xlsx › Reported_Variants_in_TGM1_Gene
Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation.
Alallasi SR et al.
Frontiers in Pediatrics, 2019
Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis.
Takeda M et al.
The Journal of Dermatology, 2018
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.
Herman ML et al.
Human Mutation, 2009
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
Farasat S et al.
Journal of Medical Genetics, 2009
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