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
Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein.
Nasser KK et al.
Journal of Biomolecular Structure & Dynamics, 2021
High prevalence of autosomal recessive congenital ichthyosis in a Mexican population caused by a new mutation in the TGM1 gene: epidemiological evidence of a founder effect.
González-Del Carmen M et al.
International Journal of Dermatology, 2020
Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.
Li W et al.
Pediatric Dermatology, 2020
Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response?
Zhang H et al.
Experimental Dermatology, 2019
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.
Marukian NV et al.
Jama Dermatology, 2017
[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].
Vályi P et al.
Fogorvosi Szemle, 2014
The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
Li H et al.
The Journal of Investigative Dermatology, 2012
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
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.
Oji V et al.
Human Molecular Genetics, 2006
Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase.
Huber M et al.
The Journal of Biological Chemistry, 1997
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