Associated Papers
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
Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Li W et al.
Pediatric Dermatology, 2020
Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients.
Sathishkumar D et al.
Case Reports in Dermatological Medicine, 2018
Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.
Thangaraju K et al.
Plos One, 2017
28248968 (PubMed )
Supplement: pone.0172189.s003.pdf
[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Vályi P et al.
Fogorvosi Szemle, 2014
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
Ichthyosis: clinical manifestations and practical treatment options.
Oji V et al.
American Journal of Clinical Dermatology, 2009
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.
Oji V et al.
Human Molecular Genetics, 2006
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