ArticleCell death & disease2012
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
Article in Cell death & disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 28 citations in OpenAlex.
- Novel Compound Heterozygous Variants inJournal of clinical medicine · 2026Article
- Transglutaminase 1: Emerging Functions beyond Skin.International journal of molecular sciences · 2024Review
- Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.Dermatology (Basel, Switzerland) · 2024Article
- Identification andMedicina (Kaunas, Lithuania) · 2023Article
- Kahweol Exerts Skin Moisturizing Activities by Upregulating STAT1 Activity.International journal of molecular sciences · 2021Article
- Effects of a complex mixture prepared from agrimonia, houttuynia, licorice, peony, and phellodendron on human skin cells.Scientific reports · 2020Article
- Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis.JAMA dermatology · 2017Article
- Luteolin-7-glucoside inhibits IL-22/STAT3 pathway, reducing proliferation, acanthosis, and inflammation in keratinocytes and in mouse psoriatic model.Cell death & disease · 2016Article
- Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.International journal of dermatology · 2016Article
- Mammalian lipoxygenases and their biological relevance.Biochimica et biophysica acta · 2015Review
- Transglutaminase regulation of cell function.Physiological reviews · 2014Review
- Scanning electron microscopy of the collodion membrane from a self-healing collodion baby.Anais brasileiros de dermatologiaArticle
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study, we have screened 16 patients affected by LI and found six new mutations: two transition/transversion (R37G, V112A), two nonsense mutations and two putative splice site both leading to a premature stop codon. The mutations are localized in exons 2 (N-terminal domain), 5, 11 (central catalytic domain), and none is located in the two beta-barrel C-terminal domains. In conclusion, this study expands the current knowledge on TGM1 mutation spectrum, increasing the characterization of mutations would provide more accurate prenatal genetic counselling for parents at-risk individuals.
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